PubMed Mentions

The links below are to publications on PubMed referring to PennCNV. This list is gathered weekly from PubMed automatically.

Publication/References
A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. Description: Lin, Chien-Hsing, et al. A genome-wide survey of copy number variations in Han Chinese residing in Taiwan. ''Genomics''. 2009 Oct; '''94''' (4):241-6
Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. Description: Cui, Long, et al. Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia. ''PLoS One''. 2013; '''8''' (6):e66631
Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. Description: Guffanti, Guia, et al. Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. ''Genomics''. 2013 Aug; '''102''' (2):112-22
Increased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews. Description: Liu, X, et al. Increased Rate of Sporadic and Recurrent Rare Genic Copy Number Variants in Parkinson's Disease Among Ashkenazi Jews. ''Mol Genet Genomic Med''. 2013 Sep; '''1''' (3):142-154
Follow-up of a major psychosis linkage site in 13q13-q14 reveals significant association in both case-control and family samples. Description: Bureau, Alexandre, et al. Follow-up of a major psychosis linkage site in 13q13-q14 reveals significant association in both case-control and family samples. ''Biol Psychiatry''. 2013 Sep 15; '''74''' (6):444-50
576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy. Description: Zhu, Xin, et al. 576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy. ''Gene''. 2013 Oct 10; '''528''' (2):352-5
Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. Description: Degenhardt, F, et al. Duplications in RB1CC1 are associated with schizophrenia; identification in large European sample sets. ''Transl Psychiatry''. 2013 Nov 26; '''3''': e326
Identifying Potential Regions of Copy Number Variation for Bipolar Disorder. Description: Chen, Yi-Hsuan, et al. Identifying Potential Regions of Copy Number Variation for Bipolar Disorder. ''Microarrays (Basel)''. 2014 Feb 28; '''3''' (1):52-71
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Description: Rubinato, Elisa, et al. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. ''Gene''. 2014 Jul 25; '''545''' (2):290-2
Structural genomic variation as risk factor for idiopathic recurrent miscarriage. Description: Nagirnaja, Liina, et al. Structural genomic variation as risk factor for idiopathic recurrent miscarriage. ''Hum Mutat''. 2014 Aug; '''35''' (8):972-82
A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. Description: Lekman, Magnus, et al. A significant risk locus on 19q13 for bipolar disorder identified using a combined genome-wide linkage and copy number variation analysis. ''BioData Min''. 2015; '''8''': 42
Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN. Description: Borge, Kaja S, et al. Canine Mammary Tumours Are Affected by Frequent Copy Number Aberrations, including Amplification of MYC and Loss of PTEN. ''PLoS One''. 2015; '''10''' (5):e0126371
Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. Description: Pettigrew, Kerry A, et al. Copy Number Variation Screen Identifies a Rare De Novo Deletion at Chromosome 15q13.1-13.3 in a Child with Language Impairment. ''PLoS One''. 2015; '''10''' (8):e0134997
Family-Based Benchmarking of Copy Number Variation Detection Software. Description: Nutsua, Marcel Elie, et al. Family-Based Benchmarking of Copy Number Variation Detection Software. ''PLoS One''. 2015; '''10''' (7):e0133465
Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population. Description: Wiedmann, Ralph T, et al. Genome-Wide Copy Number Variations Using SNP Genotyping in a Mixed Breed Swine Population. ''PLoS One''. 2015; '''10''' (7):e0133529
Haplotype phasing and inheritance of copy number variants in nuclear families. Description: Palta, Priit, et al. Haplotype phasing and inheritance of copy number variants in nuclear families. ''PLoS One''. 2015; '''10''' (4):e0122713
Relatively Small Contribution of Methylation and Genomic Copy Number Aberration to the Aberrant Expression of Inflammation-Related Genes in HBV-Related Hepatocellular Carcinoma. Description: Yu, Dianke, et al. Relatively Small Contribution of Methylation and Genomic Copy Number Aberration to the Aberrant Expression of Inflammation-Related Genes in HBV-Related Hepatocellular Carcinoma. ''PLoS One''. 2015; '''10''' (5):e0126836
Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. Description: Cooper, Nicholas J, et al. Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. ''Hum Mol Genet''. 2015 Mar 15; '''24''' (6):1774-90
Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci. Description: McLaughlin, Russell L, et al. Homozygosity mapping in an Irish ALS case-control cohort describes local demographic phenomena and points towards potential recessive risk loci. ''Genomics''. 2015 Apr; '''105''' (4):237-41
affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling. Description: Hernandez-Ferrer, Carles, et al. affy2sv: an R package to pre-process Affymetrix CytoScan HD and 750K arrays for SNP, CNV, inversion and mosaicism calling. ''BMC Bioinformatics''. 2015 May 20; '''16''': 167
Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. Description: Pocklington, Andrew J, et al. Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia. ''Neuron''. 2015 Jun 3; '''86''' (5):1203-14
CTNND2 deletion and intellectual disability. Description: Belcaro, Chiara, et al. CTNND2 deletion and intellectual disability. ''Gene''. 2015 Jul 1; '''565''' (1):146-9
Genomic copy number variation in Mus musculus. Description: Locke, M Elizabeth O, et al. Genomic copy number variation in Mus musculus. ''BMC Genomics''. 2015 Jul 4; '''16''': 497
The association of copy number variation and percent mammographic density. Description: Atkinson, Elizabeth J, et al. The association of copy number variation and percent mammographic density. ''BMC Res Notes''. 2015 Jul 8; '''8''': 297
Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. Description: Sadleir, Lynette G, et al. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome. ''Epilepsy Res''. 2015 Aug; '''114''': 98-105
Clinically relevant copy number variations detected in cerebral palsy. Description: Oskoui, Maryam, et al. Clinically relevant copy number variations detected in cerebral palsy. ''Nat Commun''. 2015 Aug 3; '''6''': 7949
CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. Description: Dajani, Rana, et al. CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations. ''Sci Rep''. 2015 Aug 21; '''5''': 13391
Integration of copy number and transcriptomics provides risk stratification in prostate cancer: A discovery and validation cohort study. Description: Ross-Adams, H, et al. Integration of copy number and transcriptomics provides risk stratification in prostate cancer: A discovery and validation cohort study. ''EBioMedicine''. 2015 Sep; '''2''' (9):1133-44
Investigation of GRIN2A in common epilepsy phenotypes. Description: Lal, Dennis, et al. Investigation of GRIN2A in common epilepsy phenotypes. ''Epilepsy Res''. 2015 Sep; '''115''': 95-9
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. Description: Zilina, Olga, et al. Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. ''BMC Genomics''. 2015 Sep 16; '''16''': 703
A genome-wide assessment of rare copy number variants in colorectal cancer. Description: Li, Zhenli, et al. A genome-wide assessment of rare copy number variants in colorectal cancer. ''Oncotarget''. 2015 Sep 22; '''6''' (28):26411-23
Genome-wide analysis identifies a role for common copy number variants in specific language impairment. Description: Simpson, Nuala H, et al. Genome-wide analysis identifies a role for common copy number variants in specific language impairment. ''Eur J Hum Genet''. 2015 Oct; '''23''' (10):1370-7
Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. Description: Jimenez-Barron, Laura T, et al. Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline. ''Cold Spring Harb Mol Case Stud''. 2015 Oct; '''1''' (1):a000422
Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. Description: Ingason, A, et al. Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia. ''Transl Psychiatry''. 2015 Oct 13; '''5''': e656
Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep. Description: Ma, Youji, et al. Analysis of copy number variations by SNP50 BeadChip array in Chinese sheep. ''Genomics''. 2015 Nov; '''106''' (5):295-300
Phospholipase C gamma 1 (PLCG1) R707Q mutation is counterselected under targeted therapy in a patient with hepatic angiosarcoma. Description: Prenen, Hans, et al. Phospholipase C gamma 1 (PLCG1) R707Q mutation is counterselected under targeted therapy in a patient with hepatic angiosarcoma. ''Oncotarget''. 2015 Nov 3; '''6''' (34):36418-25
Genomic population structure and prevalence of copy number variations in South African Nguni cattle. Description: Wang, Magretha Diane, et al. Genomic population structure and prevalence of copy number variations in South African Nguni cattle. ''BMC Genomics''. 2015 Nov 4; '''16''': 894
Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. Description: Westland, Rik, et al. Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney. ''Kidney Int''. 2015 Dec; '''88''' (6):1402-1410
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. Description: Kohda, Masakazu, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. ''PLoS Genet''. 2016 Jan; '''12''' (1):e1005679
A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci. Description: Low, Joyce Siew Yong, et al. A Genome Wide Study of Copy Number Variation Associated with Nasopharyngeal Carcinoma in Malaysian Chinese Identifies CNVs at 11q14.3 and 6p21.3 as Candidate Loci. ''PLoS One''. 2016; '''11''' (1):e0145774
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Description: Russo, Silvia, et al. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. ''Clin Epigenetics''. 2016; '''8''': 23
Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. Description: Shirley, Matthew D, et al. Copy Number Variants Associated with 14 Cases of Self-Injurious Behavior. ''PLoS One''. 2016; '''11''' (3):e0149646
Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. Description: Peter, Beate, et al. Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. ''PLoS One''. 2016; '''11''' (4):e0153864
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. Description: Sicko, Robert J, et al. Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. ''PLoS One''. 2016; '''11''' (10):e0165174
Genome-Wide Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle. Description: Silva, Vinicius Henrique da, et al. Genome-Wide Detection of CNVs and Their Association with Meat Tenderness in Nelore Cattle. ''PLoS One''. 2016; '''11''' (6):e0157711
Identification of Copy Number Variations in Xiang and Kele Pigs. Description: Xie, Jian, et al. Identification of Copy Number Variations in Xiang and Kele Pigs. ''PLoS One''. 2016; '''11''' (2):e0148565
Investigating the effects of copy number variants on reading and language performance. Description: Gialluisi, Alessandro, et al. Investigating the effects of copy number variants on reading and language performance. ''J Neurodev Disord''. 2016; '''8''': 17
Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study. Description: Sokolowski, Marcus, et al. Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study. ''PLoS One''. 2016; '''11''' (12):e0168531
Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. Description: Boon-Peng, Hoh, et al. Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy. ''PLoS One''. 2016; '''11''' (3):e0148755
Mutational spectrum of Barrett's stem cells suggests paths to initiation of a precancerous lesion. Description: Yamamoto, Yusuke, et al. Mutational spectrum of Barrett's stem cells suggests paths to initiation of a precancerous lesion. ''Nat Commun''. 2016 Jan 19; '''7''': 10380
Genome-wide identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle. Description: Sasaki, Shinji, et al. Genome-wide identification of copy number variation using high-density single-nucleotide polymorphism array in Japanese Black cattle. ''BMC Genet''. 2016 Jan 25; '''17''': 26
Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. Description: Nygaard, Marianne, et al. Copy number variation associates with mortality in long-lived individuals: a genome-wide assessment. ''Aging Cell''. 2016 Feb; '''15''' (1):49-55
Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation. Description: Prekovic, Stefan, et al. Multidisciplinary investigation links backward-speech trait and working memory through genetic mutation. ''Sci Rep''. 2016 Feb 3; '''6''': 20369
Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. Description: Rucker, James J H, et al. Phenotypic Association Analyses With Copy Number Variation in Recurrent Depressive Disorder. ''Biol Psychiatry''. 2016 Feb 15; '''79''' (4):329-36
Analysis of copy number variations in Mexican Holstein cattle using axiom genome-wide Bos 1 array. Description: Salomon-Torres, Ricardo, et al. Analysis of copy number variations in Mexican Holstein cattle using axiom genome-wide Bos 1 array. ''Genom Data''. 2016 Mar; '''7''': 97-100
Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. Description: Bertelsen, Birgitte, et al. Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort. ''Biol Psychiatry''. 2016 Mar 1; '''79''' (5):383-391
An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. Description: Lima, Leandro de Araujo, et al. An integrative approach to investigate the respective roles of single-nucleotide variants and copy-number variants in Attention-Deficit/Hyperactivity Disorder. ''Sci Rep''. 2016 Mar 7; '''6''': 22851
miR-22 has a potent anti-tumour role with therapeutic potential in acute myeloid leukaemia. Description: Jiang, Xi, et al. miR-22 has a potent anti-tumour role with therapeutic potential in acute myeloid leukaemia. ''Nat Commun''. 2016 Apr 26; '''7''': 11452
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. Description: Fry, Andrew E, et al. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. ''BMC Med Genet''. 2016 Apr 26; '''17''' (1):34
Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. Description: Mok, Kin Y, et al. Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data. ''Lancet Neurol''. 2016 May; '''15''' (6):585-96
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Description: Maduro, Valerie, et al. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. ''Orphanet J Rare Dis''. 2016 May 14; '''11''' (1):62
CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. Description: Wang, Binbin, et al. CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens. ''Sci Rep''. 2016 Jun 3; '''6''': 25954
Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. Description: da Silva, Joaquim Manoel, et al. Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits. ''BMC Genomics''. 2016 Jun 13; '''17''': 454
Intra-patient Inter-metastatic Genetic Heterogeneity in Colorectal Cancer as a Key Determinant of Survival after Curative Liver Resection. Description: Sveen, Anita, et al. Intra-patient Inter-metastatic Genetic Heterogeneity in Colorectal Cancer as a Key Determinant of Survival after Curative Liver Resection. ''PLoS Genet''. 2016 Jul; '''12''' (7):e1006225
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. Description: Tsuiko, O, et al. Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. ''Hum Reprod''. 2016 Aug; '''31''' (8):1913-25
15q13.3 duplication in two patients with childhood-onset schizophrenia. Description: Zhou, Dale, et al. 15q13.3 duplication in two patients with childhood-onset schizophrenia. ''Am J Med Genet B Neuropsychiatr Genet''. 2016 Sep; '''171''' (6):777-83
An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. Description: Murgiano, Leonardo, et al. An Intronic MBTPS2 Variant Results in a Splicing Defect in Horses with Brindle Coat Texture. ''G3 (Bethesda)''. 2016 Sep 8; '''6''' (9):2963-70
A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle. Description: Sasaki, Shinji, et al. A missense mutation in solute carrier family 12, member 1 (SLC12A1) causes hydrallantois in Japanese Black cattle. ''BMC Genomics''. 2016 Sep 9; '''17''' (1):724
C14orf132 gene is possibly related to extremely low birth weight. Description: Tiirats, Airi, et al. C14orf132 gene is possibly related to extremely low birth weight. ''BMC Genet''. 2016 Sep 22; '''17''' (1):132
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. Description: Wang, Yanping, et al. Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. ''BMC Urol''. 2016 Oct 21; '''16''' (1):62
A systematic comparison of copy number alterations in four types of female cancer. Description: Kaveh, Fatemeh, et al. A systematic comparison of copy number alterations in four types of female cancer. ''BMC Cancer''. 2016 Nov 22; '''16''' (1):913
Loss of maternal ANNEXIN A10 via a 34-kb deleted-type copy number variation is associated with embryonic mortality in Japanese Black cattle. Description: Sasaki, Shinji, et al. Loss of maternal ANNEXIN A10 via a 34-kb deleted-type copy number variation is associated with embryonic mortality in Japanese Black cattle. ''BMC Genomics''. 2016 Nov 24; '''17''' (1):968
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. Description: Ganna, Andrea, et al. Ultra-rare disruptive and damaging mutations influence educational attainment in the general population. ''Nat Neurosci''. 2016 Dec; '''19''' (12):1563-1565
Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. Description: Lubbe, Steven J, et al. Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance. ''Hum Mol Genet''. 2016 Dec 15; '''25''' (24):5483-5489
Sacral agenesis: a pilot whole exome sequencing and copy number study. Description: Porsch, Robert M, et al. Sacral agenesis: a pilot whole exome sequencing and copy number study. ''BMC Med Genet''. 2016 Dec 22; '''17''' (1):98
A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. Description: Yuan, Jianmin, et al. A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population. ''Hereditas''. 2017; '''154''': 2
CNV Analysis of Host Responses to Porcine Reproductive and Respiratory Syndrome Virus Infection. Description: Hay, El Hamidi A, et al. CNV Analysis of Host Responses to Porcine Reproductive and Respiratory Syndrome Virus Infection. ''J Genomics''. 2017; '''5''': 58-63
Copy Number Variants in Alzheimer's Disease. Description: Cuccaro, Denis, et al. Copy Number Variants in Alzheimer's Disease. ''J Alzheimers Dis''. 2017; '''55''' (1):37-52
Copy number variants in Ebstein anomaly. Description: Giannakou, Andreas, et al. Copy number variants in Ebstein anomaly. ''PLoS One''. 2017; '''12''' (12):e0188168
Distribution and Functionality of Copy Number Variation across European Cattle Populations. Description: Upadhyay, Maulik, et al. Distribution and Functionality of Copy Number Variation across European Cattle Populations. ''Front Genet''. 2017; '''8''': 108
Detection and validation of structural variations in bovine whole-genome sequence data. Description: Chen, Long, et al. Detection and validation of structural variations in bovine whole-genome sequence data. ''Genet Sel Evol''. 2017 Jan 25; '''49''' (1):13
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. Description: Fang, Han, et al. Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. ''BMC Med Genomics''. 2017 Feb 23; '''10''' (1):10
Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. Description: Walker, Logan C, et al. Increased genomic burden of germline copy number variants is associated with early onset breast cancer: Australian breast cancer family registry. ''Breast Cancer Res''. 2017 Mar 16; '''19''' (1):30
CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Description: Mercati, O, et al. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. ''Mol Psychiatry''. 2017 Apr; '''22''' (4):625-633
Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. Description: Walker, Logan C, et al. Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers. ''Eur J Hum Genet''. 2017 Apr; '''25''' (4):432-438
Genetic Imbalance in Patients with Cervical Artery Dissection. Description: Grond-Ginsbach, Caspar, et al. Genetic Imbalance in Patients with Cervical Artery Dissection. ''Curr Genomics''. 2017 Apr; '''18''' (2):206-213
Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. Description: Wong, Raymond C B, et al. Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy. ''Aging (Albany NY)''. 2017 Apr; '''9''' (4):1341-1350
Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis. Description: Cheng, Guo, et al. Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis. ''BMC Med Genomics''. 2017 Apr 17; '''10''' (1):22
Genome-wide detection of copy number variation in Chinese indigenous sheep using an ovine high-density 600 K SNP array. Description: Ma, Qing, et al. Genome-wide detection of copy number variation in Chinese indigenous sheep using an ovine high-density 600 K SNP array. ''Sci Rep''. 2017 Apr 19; '''7''' (1):912
Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese. Description: Zhang, Ying, et al. Comprehensive assessment showed no associations of variants at the SLC10A1 locus with susceptibility to persistent HBV infection among Southern Chinese. ''Sci Rep''. 2017 Apr 21; '''7''': 46490
Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. Description: Serra-Juhe, Clara, et al. Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. ''PLoS Genet''. 2017 May; '''13''' (5):e1006657
The impact of structural variation on human gene expression. Description: Chiang, Colby, et al. The impact of structural variation on human gene expression. ''Nat Genet''. 2017 May; '''49''' (5):692-699
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. Description: Merkle, Florian T, et al. Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations. ''Nature''. 2017 May 11; '''545''' (7653):229-233
Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. Description: Leon, Luis E, et al. Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients. ''Sci Rep''. 2017 May 11; '''7''' (1):1795
Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1. Description: Sveen, Anita, et al. Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1. ''Genome Med''. 2017 May 24; '''9''' (1):46
Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse. Description: Werdyani, Salem, et al. Germline INDELs and CNVs in a cohort of colorectal cancer patients: their characteristics, associations with relapse-free survival time, and potential time-varying effects on the risk of relapse. ''Cancer Med''. 2017 Jun; '''6''' (6):1220-1232
Quantification of within-sample genetic heterogeneity from SNP-array data. Description: Martinez, Pierre, et al. Quantification of within-sample genetic heterogeneity from SNP-array data. ''Sci Rep''. 2017 Jun 12; '''7''' (1):3248
Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. Description: Behjati, Sam, et al. Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. ''Nat Commun''. 2017 Jun 23; '''8''': 15936
Genomic variability in Mexican chicken population using copy number variants. Description: Gorla, E, et al. Genomic variability in Mexican chicken population using copy number variants. ''BMC Genet''. 2017 Jul 3; '''18''' (1):61
Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. Description: Kendall, Kimberley M, et al. Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. ''Biol Psychiatry''. 2017 Jul 15; '''82''' (2):103-110
Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population. Description: Chung, Ren-Hua, et al. Genome-wide copy number variation analysis identified deletions in SFMBT1 associated with fasting plasma glucose in a Han Chinese population. ''BMC Genomics''. 2017 Aug 8; '''18''' (1):591
Genome-Wide SNP Signal Intensity Scanning Revealed Genes Differentiating Cows with Ovarian Pathologies from Healthy Cows. Description: Salomon-Torres, Ricardo, et al. Genome-Wide SNP Signal Intensity Scanning Revealed Genes Differentiating Cows with Ovarian Pathologies from Healthy Cows. ''Sensors (Basel)''. 2017 Aug 21; '''17''' (8):
Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome. Description: Starnawska, A, et al. Differential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome. ''Transl Psychiatry''. 2017 Aug 29; '''7''' (8):e1221
Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. Description: Camacho, Niedzica, et al. Appraising the relevance of DNA copy number loss and gain in prostate cancer using whole genome DNA sequence data. ''PLoS Genet''. 2017 Sep; '''13''' (9):e1007001
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. Description: Perez-Palma, Eduardo, et al. Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies. ''J Med Genet''. 2017 Sep; '''54''' (9):598-606
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Description: Chang, Xiao, et al. Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. ''Nat Commun''. 2017 Sep 18; '''8''' (1):569
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. Description: Chen, Chia-Hsiang, et al. High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan. ''Sci Rep''. 2017 Sep 20; '''7''' (1):11919
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. Description: Mace, Aurelien, et al. CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. ''Nat Commun''. 2017 Sep 29; '''8''' (1):744
Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. Description: Carter, Tonia C, et al. Copy-number variants and candidate gene mutations in isolated split hand/foot malformation. ''J Hum Genet''. 2017 Oct; '''62''' (10):877-884
PennCNV in whole-genome sequencing data. Description: de Araujo Lima, Leandro, et al. PennCNV in whole-genome sequencing data. ''BMC Bioinformatics''. 2017 Oct 3; '''18''' (Suppl 11):383
Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. Description: Riaz, Nadeem, et al. Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes. ''Nat Commun''. 2017 Oct 11; '''8''' (1):857
Identification of copy number variation in French dairy and beef breeds using next-generation sequencing. Description: Letaief, Rabia, et al. Identification of copy number variation in French dairy and beef breeds using next-generation sequencing. ''Genet Sel Evol''. 2017 Oct 24; '''49''' (1):77
PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. Description: Hall, Molly A, et al. PLATO software provides analytic framework for investigating complexity beyond genome-wide association studies. ''Nat Commun''. 2017 Oct 27; '''8''' (1):1167
Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle. Description: Yang, Liu, et al. Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle. ''Sci Rep''. 2017 Oct 30; '''7''' (1):14299
Identification of miRNA and genes involving in osteosarcoma by comprehensive analysis of microRNA and copy number variation data. Description: Luo, Tao, et al. Identification of miRNA and genes involving in osteosarcoma by comprehensive analysis of microRNA and copy number variation data. ''Oncol Lett''. 2017 Nov; '''14''' (5):5427-5433
Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing. Description: Kim, Myungshin, et al. Passage-dependent accumulation of somatic mutations in mesenchymal stromal cells during in vitro culture revealed by whole genome sequencing. ''Sci Rep''. 2017 Nov 6; '''7''' (1):14508
Universal Patterns of Selection in Cancer and Somatic Tissues. Description: Martincorena, Inigo, et al. Universal Patterns of Selection in Cancer and Somatic Tissues. ''Cell''. 2017 Nov 16; '''171''' (5):1029-1041.e21
Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. Description: Glessner, Joseph T, et al. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders. ''Genome Med''. 2017 Nov 30; '''9''' (1):106
A copy number variant scan in the autochthonous Valdostana Red Pied cattle breed and comparison with specialized dairy populations. Description: Strillacci, Maria Giuseppina, et al. A copy number variant scan in the autochthonous Valdostana Red Pied cattle breed and comparison with specialized dairy populations. ''PLoS One''. 2018; '''13''' (9):e0204669
Genetic Diversity of Seven Cattle Breeds Inferred Using Copy Number Variations. Description: Pierce, Magretha D, et al. Genetic Diversity of Seven Cattle Breeds Inferred Using Copy Number Variations. ''Front Genet''. 2018; '''9''': 163
Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population. Description: Wu, Yishuo, et al. Genome-wide Association Study (GWAS) of Germline Copy Number Variations (CNVs) Reveal Genetic Risks of Prostate Cancer in Chinese population. ''J Cancer''. 2018; '''9''' (5):923-928
Metabolic characterization of isocitrate dehydrogenase (IDH) mutant and IDH wildtype gliomaspheres uncovers cell type-specific vulnerabilities. Description: Garrett, Matthew, et al. Metabolic characterization of isocitrate dehydrogenase (IDH) mutant and IDH wildtype gliomaspheres uncovers cell type-specific vulnerabilities. ''Cancer Metab''. 2018; '''6''': 4
Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling. Description: Elia, Josephine, et al. Fasoracetam in adolescents with ADHD and glutamatergic gene network variants disrupting mGluR neurotransmitter signaling. ''Nat Commun''. 2018 Jan 16; '''9''' (1):4
Evolution of Barrett's esophagus through space and time at single-crypt and whole-biopsy levels. Description: Martinez, Pierre, et al. Evolution of Barrett's esophagus through space and time at single-crypt and whole-biopsy levels. ''Nat Commun''. 2018 Feb 23; '''9''' (1):794
CNVs are associated with genomic architecture in a songbird. Description: da Silva, Vinicius H, et al. CNVs are associated with genomic architecture in a songbird. ''BMC Genomics''. 2018 Mar 13; '''19''' (1):195
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. Description: Vincent, Quentin B, et al. Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer. ''PLoS Negl Trop Dis''. 2018 Apr; '''12''' (4):e0006429
A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. Description: Gregory, Michael D, et al. A method for determining haploid and triploid genotypes and their association with vascular phenotypes in Williams syndrome and 7q11.23 duplication syndrome. ''BMC Med Genet''. 2018 Apr 4; '''19''' (1):53
Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci. Description: Labreche, Karim, et al. Diffuse gliomas classified by 1p/19q co-deletion, TERT promoter and IDH mutation status are associated with specific genetic risk loci. ''Acta Neuropathol''. 2018 May; '''135''' (5):743-755
Population-specific genetic modification of Huntington's disease in Venezuela. Description: Chao, Michael J, et al. Population-specific genetic modification of Huntington's disease in Venezuela. ''PLoS Genet''. 2018 May; '''14''' (5):e1007274
The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese. Description: Zhao, Xin, et al. The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese. ''Aging (Albany NY)''. 2018 Jun 5; '''10''' (6):1206-1222
Association of copy number variation across the genome with neuropsychiatric traits in the general population. Description: Guyatt, Anna L, et al. Association of copy number variation across the genome with neuropsychiatric traits in the general population. ''Am J Med Genet B Neuropsychiatr Genet''. 2018 Jul; '''177''' (5):489-502
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Description: Karch, Celeste M, et al. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. ''Alzheimers Res Ther''. 2018 Jul 25; '''10''' (1):69
Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity. Description: Schurink, Anouk, et al. Copy number variations in Friesian horses and genetic risk factors for insect bite hypersensitivity. ''BMC Genet''. 2018 Jul 30; '''19''' (1):49
Genetic and genomic stability across lymphoblastoid cell line expansions. Description: Scheinfeldt, Laura B, et al. Genetic and genomic stability across lymphoblastoid cell line expansions. ''BMC Res Notes''. 2018 Aug 3; '''11''' (1):558
Misidentification of runs of homozygosity islands in cattle caused by interference with copy number variation or large intermarker distances. Description: Nandolo, Wilson, et al. Misidentification of runs of homozygosity islands in cattle caused by interference with copy number variation or large intermarker distances. ''Genet Sel Evol''. 2018 Aug 22; '''50''' (1):43
Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. Description: Derks, Martijn F L, et al. Balancing selection on a recessive lethal deletion with pleiotropic effects on two neighboring genes in the porcine genome. ''PLoS Genet''. 2018 Sep; '''14''' (9):e1007661
Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. Description: Addis, Laura, et al. Identification of new risk factors for rolandic epilepsy: CNV at Xp22.31 and alterations at cholinergic synapses. ''J Med Genet''. 2018 Sep; '''55''' (9):607-616
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. Description: Wang, Sheng, et al. De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis. ''Cell Rep''. 2018 Sep 25; '''24''' (13):3441-3454.e12
Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America. Description: Oliveira, Pablo, et al. Genome-wide burden and association analyses implicate copy number variations in asthma risk among children and young adults from Latin America. ''Sci Rep''. 2018 Sep 27; '''8''' (1):14475
Copy number load predicts outcome of metastatic colorectal cancer patients receiving bevacizumab combination therapy. Description: Smeets, Dominiek, et al. Copy number load predicts outcome of metastatic colorectal cancer patients receiving bevacizumab combination therapy. ''Nat Commun''. 2018 Oct 5; '''9''' (1):4112
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. Description: Schanze, Ina, et al. NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. ''Am J Hum Genet''. 2018 Nov 1; '''103''' (5):752-768
Detection of copy number variations in brown and white layers based on genotyping panels with different densities. Description: Drobik-Czwarno, Wioleta, et al. Detection of copy number variations in brown and white layers based on genotyping panels with different densities. ''Genet Sel Evol''. 2018 Nov 6; '''50''' (1):54
Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. Description: Owen, David, et al. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. ''BMC Genomics''. 2018 Dec 4; '''19''' (1):867
Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. Description: Liu, Yichuan, et al. Association of Rare Recurrent Copy Number Variants With Congenital Heart Defects Based on Next-Generation Sequencing Data From Family Trios. ''Front Genet''. 2019; '''10''': 819
Both rare and common genetic variants contribute to autism in the Faroe Islands. Description: Leblond, Claire S, et al. Both rare and common genetic variants contribute to autism in the Faroe Islands. ''NPJ Genom Med''. 2019; '''4''': 1
Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate. Description: Scapoli, Luca, et al. Copy number variation analysis of twin pairs discordant for cleft lip with or without cleft palate. ''Int J Immunopathol Pharmacol''. 2019 Jan-Dec; '''33''': 2058738419855873
Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations. Description: Strillacci, Maria G, et al. Copy Number Variation Mapping and Genomic Variation of Autochthonous and Commercial Turkey Populations. ''Front Genet''. 2019; '''10''': 982
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. Description: Feliciano, Pamela, et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. ''NPJ Genom Med''. 2019; '''4''': 19
Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia. Description: Kornilov, Sergey A, et al. Genome-Wide Homozygosity Mapping Reveals Genes Associated With Cognitive Ability in Children From Saudi Arabia. ''Front Genet''. 2019; '''10''': 888
Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells. Description: Avazzadeh, Sahar, et al. Increased Ca(2+) signaling in NRXN1alpha (+/-) neurons derived from ASD induced pluripotent stem cells. ''Mol Autism''. 2019; '''10''': 52
Timing and Extent of Inbreeding in African Goats. Description: Nandolo, Wilson, et al. Timing and Extent of Inbreeding in African Goats. ''Front Genet''. 2019; '''10''': 537
Probe-based association analysis identifies several deletions associated with average daily gain in beef cattle. Description: Xu, Lingyang, et al. Probe-based association analysis identifies several deletions associated with average daily gain in beef cattle. ''BMC Genomics''. 2019 Jan 10; '''20''' (1):31
Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. Description: Torabi, Keyvan, et al. Quantitative analysis of somatically acquired and constitutive uniparental disomy in gastrointestinal cancers. ''Int J Cancer''. 2019 Feb 1; '''144''' (3):513-524
Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene. Description: Bacchelli, Elena, et al. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene. ''J Clin Med''. 2019 Feb 7; '''8''' (2):
Identification of copy number variations using high density whole-genome SNP markers in Chinese Dongxiang spotted pigs. Description: Wang, Chengbin, et al. Identification of copy number variations using high density whole-genome SNP markers in Chinese Dongxiang spotted pigs. ''Asian-Australas J Anim Sci''. 2019 Feb 7; 1809-1815
Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. Description: Drakesmith, Mark, et al. Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures. ''Transl Psychiatry''. 2019 Feb 25; '''9''' (1):102
Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. Description: Underwood, Jack F G, et al. Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. ''Br J Psychiatry''. 2019 Feb 26; 1-7
A comprehensive screening of copy number variability in dementia with Lewy bodies. Description: Kun-Rodrigues, Celia, et al. A comprehensive screening of copy number variability in dementia with Lewy bodies. ''Neurobiol Aging''. 2019 Mar; '''75''': 223.e1-223.e10
A Genome-Wide Detection of Copy Number Variations Using SNP Genotyping Arrays in Braque Francais Type Pyrenees Dogs. Description: Di Gerlando, Rosalia, et al. A Genome-Wide Detection of Copy Number Variations Using SNP Genotyping Arrays in Braque Francais Type Pyrenees Dogs. ''Animals (Basel)''. 2019 Mar 1; '''9''' (3):
Classifying Breast Cancer Subtypes Using Multiple Kernel Learning Based on Omics Data. Description: Tao, Mingxin, et al. Classifying Breast Cancer Subtypes Using Multiple Kernel Learning Based on Omics Data. ''Genes (Basel)''. 2019 Mar 7; '''10''' (3):
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. Description: Tiosano, Dov, et al. Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. ''PLoS Genet''. 2019 Apr; '''15''' (4):e1008088
EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data. Description: Zhang, Zhongyang, et al. EnsembleCNV: an ensemble machine learning algorithm to identify and genotype copy number variation using SNP array data. ''Nucleic Acids Res''. 2019 Apr 23; '''47''' (7):e39
A genome-wide single nucleotide polymorphism and copy number variation analysis for number of piglets born alive. Description: Stafuzza, Nedenia Bonvino, et al. A genome-wide single nucleotide polymorphism and copy number variation analysis for number of piglets born alive. ''BMC Genomics''. 2019 Apr 27; '''20''' (1):321
Genomic structural diversity in Criollo Argentino horses: Analysis of copy number variations. Description: Corbi-Botto, Claudia M, et al. Genomic structural diversity in Criollo Argentino horses: Analysis of copy number variations. ''Gene''. 2019 May 5; '''695''': 26-31
Copy number variation-based gene set analysis reveals cytokine signalling pathways associated with psychiatric comorbidity in patients with inflammatory bowel disease. Description: Frenkel, Svetlana, et al. Copy number variation-based gene set analysis reveals cytokine signalling pathways associated with psychiatric comorbidity in patients with inflammatory bowel disease. ''Genomics''. 2019 May 7;
Screening of underlying genetic biomarkers for ankylosing spondylitis. Description: Fan, Xutao, et al. Screening of underlying genetic biomarkers for ankylosing spondylitis. ''Mol Med Rep''. 2019 Jun; '''19''' (6):5263-5274
Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. Description: Reisberg, Sulev, et al. Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions. ''Genet Med''. 2019 Jun; '''21''' (6):1345-1354
Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. Description: Zhang, Xianglong, et al. Genome-wide Burden of Rare Short Deletions Is Enriched in Major Depressive Disorder in Four Cohorts. ''Biol Psychiatry''. 2019 Jun 15; '''85''' (12):1065-1073
About the existence of common determinants of gene expression in the porcine liver and skeletal muscle. Description: Gonzalez-Prendes, Rayner, et al. About the existence of common determinants of gene expression in the porcine liver and skeletal muscle. ''BMC Genomics''. 2019 Jun 24; '''20''' (1):518
A machine-learning approach for accurate detection of copy number variants from exome sequencing. Description: Pounraja, Vijay Kumar, et al. A machine-learning approach for accurate detection of copy number variants from exome sequencing. ''Genome Res''. 2019 Jul; '''29''' (7):1134-1143
Abstracts from the 51(st) European Society of Human Genetics Conference: Posters. Description: Abstracts from the 51(st) European Society of Human Genetics Conference: Posters. ''Eur J Hum Genet''. 2019 Jul; '''27''' (Suppl 1):1-688
Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. Description: Ribeiro, Grazielle Esteves, et al. Deletions in Genes Participating in Innate Immune Response Modify the Clinical Course of Andes Orthohantavirus Infection. ''Viruses''. 2019 Jul 25; '''11''' (8):
Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. Description: Frenkel, Svetlana, et al. Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population. ''Data Brief''. 2019 Aug; '''25''': 104203
Deletion at 2q14.3 is associated with worse response to TNF-alpha blockers in patients with rheumatoid arthritis. Description: Gu, Ki-Nam, et al. Deletion at 2q14.3 is associated with worse response to TNF-alpha blockers in patients with rheumatoid arthritis. ''Arthritis Res Ther''. 2019 Aug 28; '''21''' (1):195
Horizontal and vertical integrative analysis methods for mental disorders omics data. Description: Wang, Shuaichao, et al. Horizontal and vertical integrative analysis methods for mental disorders omics data. ''Sci Rep''. 2019 Sep 17; '''9''' (1):13430
Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. Description: Lee, Arthur S, et al. Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility. ''Nat Commun''. 2019 Oct 11; '''10''' (1):4626
Improved Tumor Purity Metrics in Next-generation Sequencing for Clinical Practice: The Integrated Interpretation of Neoplastic Cellularity and Sequencing Results (IINCaSe) Approach. Description: Patel, Nirali M, et al. Improved Tumor Purity Metrics in Next-generation Sequencing for Clinical Practice: The Integrated Interpretation of Neoplastic Cellularity and Sequencing Results (IINCaSe) Approach. ''Appl Immunohistochem Mol Morphol''. 2019 Nov/Dec; '''27''' (10):764-772
Midnolin is a confirmed genetic risk factor for Parkinson's disease. Description: Obara, Yutaro, et al. Midnolin is a confirmed genetic risk factor for Parkinson's disease. ''Ann Clin Transl Neurol''. 2019 Nov; '''6''' (11):2205-2211
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. Description: Giannuzzi, Giuliana, et al. The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals. ''Am J Hum Genet''. 2019 Nov 7; '''105''' (5):947-958
Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture. Description: Binversie, Emily E, et al. Analysis of copy number variation in dogs implicates genomic structural variation in the development of anterior cruciate ligament rupture. ''PLoS One''. 2020; '''15''' (12):e0244075
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. Description: Bodily, Weston R, et al. Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures. ''PLoS One''. 2020; '''15''' (9):e0239197
Genome-Wide Detection of CNVs and Association With Body Weight in Sheep Based on 600K SNP Arrays. Description: Wang, Zhipeng, et al. Genome-Wide Detection of CNVs and Association With Body Weight in Sheep Based on 600K SNP Arrays. ''Front Genet''. 2020; '''11''': 558
Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. Description: Yehia, Lamis, et al. Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations. ''JAMA Netw Open''. 2020 Jan 3; '''3''' (1):e1920415
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Description: Li, Yun Rose, et al. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. ''Nat Commun''. 2020 Jan 14; '''11''' (1):255
Functional and population genetic features of copy number variations in two dairy cattle populations. Description: Lee, Young-Lim, et al. Functional and population genetic features of copy number variations in two dairy cattle populations. ''BMC Genomics''. 2020 Jan 28; '''21''' (1):89
Fusion transcripts in normal human cortex increase with age and show distinct genomic features for single cells and tissues. Description: Mehani, Bharati, et al. Fusion transcripts in normal human cortex increase with age and show distinct genomic features for single cells and tissues. ''Sci Rep''. 2020 Jan 28; '''10''' (1):1368
A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Description: Rajagopalan, Ramakrishnan, et al. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. ''Genome Med''. 2020 Jan 30; '''12''' (1):14
Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course. Description: Takaya, Hisamitsu, et al. Intratumor heterogeneity and homologous recombination deficiency of high-grade serous ovarian cancer are associated with prognosis and molecular subtype and change in treatment course. ''Gynecol Oncol''. 2020 Feb; '''156''' (2):415-422
DNA methylation-driven EMT is a common mechanism of resistance to various therapeutic agents in cancer. Description: Galle, Eva, et al. DNA methylation-driven EMT is a common mechanism of resistance to various therapeutic agents in cancer. ''Clin Epigenetics''. 2020 Feb 14; '''12''' (1):27
An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray. Description: Bacchelli, Elena, et al. An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray. ''Sci Rep''. 2020 Feb 21; '''10''' (1):3198
Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Description: Sonderby, Ida E, et al. Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. ''Mol Psychiatry''. 2020 Mar; '''25''' (3):584-602
Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism hap... Description: Rafter, Pierce, et al. Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism haplotypes in cattle. ''BMC Genomics''. 2020 Mar 4; '''21''' (1):205
Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. Description: Yamasaki, Maria, et al. Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases. ''BMC Med Genomics''. 2020 Mar 29; '''13''' (1):55
DNA copy number motifs are strong and independent predictors of survival in breast cancer. Description: Pladsen, Arne V, et al. DNA copy number motifs are strong and independent predictors of survival in breast cancer. ''Commun Biol''. 2020 Apr 2; '''3''' (1):153
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. Description: Perrino, Peter A, et al. Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes. ''Commun Biol''. 2020 Apr 20; '''3''' (1):180
A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. Description: Martin, Joanna, et al. A brief report: de novo copy number variants in children with attention deficit hyperactivity disorder. ''Transl Psychiatry''. 2020 May 12; '''10''' (1):135
Tropomyosin 1 genetically constrains in vitro hematopoiesis. Description: Thom, Christopher Stephen, et al. Tropomyosin 1 genetically constrains in vitro hematopoiesis. ''BMC Biol''. 2020 May 14; '''18''' (1):52
High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data. Description: Butty, Adrien M, et al. High confidence copy number variants identified in Holstein dairy cattle from whole genome sequence and genotype array data. ''Sci Rep''. 2020 May 15; '''10''' (1):8044
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Description: Zampaglione, Erin, et al. Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. ''Genet Med''. 2020 Jun; '''22''' (6):1079-1087
Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations. Description: Di Gerlando, Rosalia, et al. Genomic Structural Diversity in Local Goats: Analysis of Copy-Number Variations. ''Animals (Basel)''. 2020 Jun 16; '''10''' (6):
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. Description: Kim, Kyung-Hee, et al. Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects. ''Am J Hum Genet''. 2020 Jul 2; '''107''' (1):96-110
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. Description: Martin, Christa Lese, et al. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population. ''JAMA Psychiatry''. 2020 Jul 22;
Genetic background of ataxia in children younger than 5 years in Finland. Description: Ignatius, Erika, et al. Genetic background of ataxia in children younger than 5 years in Finland. ''Neurol Genet''. 2020 Aug; '''6''' (4):e444
Recurrent Rare Copy Number Variants Increase Risk for Esotropia. Description: Whitman, Mary C, et al. Recurrent Rare Copy Number Variants Increase Risk for Esotropia. ''Invest Ophthalmol Vis Sci''. 2020 Aug 3; '''61''' (10):22
Classifying Breast Cancer Subtypes Using Deep Neural Networks Based on Multi-Omics Data. Description: Lin, Yuqi, et al. Classifying Breast Cancer Subtypes Using Deep Neural Networks Based on Multi-Omics Data. ''Genes (Basel)''. 2020 Aug 4; '''11''' (8):
A genome-wide analysis of copy number variation in Murciano-Granadina goats. Description: Guan, Dailu, et al. A genome-wide analysis of copy number variation in Murciano-Granadina goats. ''Genet Sel Evol''. 2020 Aug 8; '''52''' (1):44
Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank. Description: Williams, Simon G, et al. Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank. ''Eur J Hum Genet''. 2020 Sep; '''28''' (9):1265-1273
Copy number variants in siblings of Mexican origin concordant for schizophrenia or bipolar disorder. Description: Vega-Sevey, Julissa Gabriela, et al. Copy number variants in siblings of Mexican origin concordant for schizophrenia or bipolar disorder. ''Psychiatry Res''. 2020 Sep; '''291''': 113018
Genome-wide associations of human gut microbiome variation and implications for causal inference analyses. Description: Hughes, David A, et al. Genome-wide associations of human gut microbiome variation and implications for causal inference analyses. ''Nat Microbiol''. 2020 Sep; '''5''' (9):1079-1087
Detection of copy number variation and selection signatures on the X chromosome in Chinese indigenous sheep with different types of tail. Description: Zhu, Caiye, et al. Detection of copy number variation and selection signatures on the X chromosome in Chinese indigenous sheep with different types of tail. ''Asian-Australas J Anim Sci''. 2020 Sep; '''33''' (9):1378-1386
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. Description: Leu, Costin, et al. Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures. ''Sci Rep''. 2020 Sep 16; '''10''' (1):15205
Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. Description: Dima, Diana C, et al. Electrophysiological network alterations in adults with copy number variants associated with high neurodevelopmental risk. ''Transl Psychiatry''. 2020 Sep 21; '''10''' (1):324
Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: data-linkage study. Description: Kendall, Kimberley M, et al. Impact of schizophrenia genetic liability on the association between schizophrenia and physical illness: data-linkage study. ''BJPsych Open''. 2020 Nov 10; '''6''' (6):e139
Molecular characterisation of TP53 mutated squamous cell carcinomas of the lung to identify putative targets for therapy. Description: Haakensen, Vilde D, et al. Molecular characterisation of TP53 mutated squamous cell carcinomas of the lung to identify putative targets for therapy. ''Int J Cancer''. 2020 Nov 15; '''147''' (10):2957-2966
Copy number gain of pro-inflammatory genes in patients with HBV-related acute-on-chronic liver failure. Description: Sun, Fengming, et al. Copy number gain of pro-inflammatory genes in patients with HBV-related acute-on-chronic liver failure. ''BMC Med Genomics''. 2020 Dec 1; '''13''' (1):180
Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy. Description: Zarubin, Aleksei, et al. Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy. ''Genes (Basel)''. 2020 Dec 25; '''12''' (1):
CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors. Description: Shi, Zhiwen, et al. CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors. ''Theranostics''. 2021; '''11''' (15):7175-7187
Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. Description: Martin, Joanna, et al. Examining sex differences in neurodevelopmental and psychiatric genetic risk in anxiety and depression. ''PLoS One''. 2021; '''16''' (9):e0248254
Experimental and bioinformatics considerations in cancer application of single cell genomics. Description: Tan, Joanna Hui Juan, et al. Experimental and bioinformatics considerations in cancer application of single cell genomics. ''Comput Struct Biotechnol J''. 2021; '''19''': 343-354
Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep. Description: Salehian-Dehkordi, Hosein, et al. Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep. ''Front Genet''. 2021; '''12''': 670582
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. Description: Smajlagic, Dinka, et al. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. ''Eur J Hum Genet''. 2021 Jan; '''29''' (1):205-215
The Contribution of Copy Number Variants and Single Nucleotide Polymorphisms to the Additive Genetic Variance of Carcass Traits in Cattle. Description: Rafter, Pierce, et al. The Contribution of Copy Number Variants and Single Nucleotide Polymorphisms to the Additive Genetic Variance of Carcass Traits in Cattle. ''Front Genet''. 2021; '''12''': 761503
The copy number variation and stroke (CaNVAS) risk and outcome study. Description: Cole, John W, et al. The copy number variation and stroke (CaNVAS) risk and outcome study. ''PLoS One''. 2021; '''16''' (4):e0248791
A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. Description: Romdhane, Lilia, et al. A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. ''NPJ Genom Med''. 2021 Jan 8; '''6''' (1):3
Comprehensive Assessment of Copy Number Alterations Uncovers Recurrent AIFM3 and DLK1 Copy Gain in Medullary Thyroid Carcinoma. Description: Araujo, Aline Neves, et al. Comprehensive Assessment of Copy Number Alterations Uncovers Recurrent AIFM3 and DLK1 Copy Gain in Medullary Thyroid Carcinoma. ''Cancers (Basel)''. 2021 Jan 9; '''13''' (2):
SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. Description: Lavrichenko, Ksenia, et al. SeeCiTe: a method to assess CNV calls from SNP arrays using trio data. ''Bioinformatics''. 2021 Jan 18;
Copy Number Variants in Four Italian Turkey Breeds. Description: Strillacci, Maria Giuseppina, et al. Copy Number Variants in Four Italian Turkey Breeds. ''Animals (Basel)''. 2021 Feb 3; '''11''' (2):
A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle. Description: Sasaki, Shinji, et al. A 44-kb deleted-type copy number variation is associated with decreasing complement component activity and calf mortality in Japanese Black cattle. ''BMC Genomics''. 2021 Feb 6; '''22''' (1):107
Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. Description: Yap, Chloe X, et al. Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank. ''Mol Autism''. 2021 Feb 10; '''12''' (1):12
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells. Description: Neavin, Drew, et al. Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells. ''Genome Biol''. 2021 Mar 5; '''22''' (1):76
Evaluation of genetic diversity and management of disease in Border Collie dogs. Description: Soh, Pamela Xing Yi, et al. Evaluation of genetic diversity and management of disease in Border Collie dogs. ''Sci Rep''. 2021 Mar 18; '''11''' (1):6243
Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. Description: Sasaki, Shinji, et al. Identification of deleterious recessive haplotypes and candidate deleterious recessive mutations in Japanese Black cattle. ''Sci Rep''. 2021 Mar 23; '''11''' (1):6687
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. Description: Lubbe, Steven J, et al. Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk. ''Hum Mol Genet''. 2021 Mar 25; '''30''' (1):78-86
Identification of biomarkers complementary to homologous recombination deficiency for improving the clinical outcome of ovarian serous cystadenocarcinoma. Description: Shi, Zhiwen, et al. Identification of biomarkers complementary to homologous recombination deficiency for improving the clinical outcome of ovarian serous cystadenocarcinoma. ''Clin Transl Med''. 2021 May; '''11''' (5):e399
Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs. Description: Qiu, Yibin, et al. Genome-wide detection of CNV regions and their potential association with growth and fatness traits in Duroc pigs. ''BMC Genomics''. 2021 May 8; '''22''' (1):332
Genome-wide copy number variations in a large cohort of bantu African children. Description: Yilmaz, Feyza, et al. Genome-wide copy number variations in a large cohort of bantu African children. ''BMC Med Genomics''. 2021 May 17; '''14''' (1):129
Genome-wide detection of CNVs and their association with performance traits in broilers. Description: Fernandes, Anna Carolina, et al. Genome-wide detection of CNVs and their association with performance traits in broilers. ''BMC Genomics''. 2021 May 17; '''22''' (1):354
Copy number variations in Japanese children with autism spectrum disorder. Description: Sakamoto, Yui, et al. Copy number variations in Japanese children with autism spectrum disorder. ''Psychiatr Genet''. 2021 Jun 1; '''31''' (3):79-87
Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population. Description: Kikuchi, Masataka, et al. Genome-wide copy number variation analysis of hepatitis B infection in a Japanese population. ''Hum Genome Var''. 2021 Jun 8; '''8''' (1):22
Rare Copy Number Variants Are Associated With Poorer Cognition in Schizophrenia. Description: Hubbard, Leon, et al. Rare Copy Number Variants Are Associated With Poorer Cognition in Schizophrenia. ''Biol Psychiatry''. 2021 Jul 1; '''90''' (1):28-34
A comprehensive analysis of copy number variation in a Turkish dementia cohort. Description: Dehghani, Nadia, et al. A comprehensive analysis of copy number variation in a Turkish dementia cohort. ''Hum Genomics''. 2021 Jul 28; '''15''' (1):48
A neurogenetic analysis of female autism. Description: Jack, Allison, et al. A neurogenetic analysis of female autism. ''Brain''. 2021 Jul 28; '''144''' (6):1911-1926
Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. Description: Lo Faro, Valeria, et al. Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma. ''BMC Genomics''. 2021 Aug 4; '''22''' (1):590
Immune-Omics Networks of CD27, PD1, and PDL1 in Non-Small Cell Lung Cancer. Description: Ye, Qing, et al. Immune-Omics Networks of CD27, PD1, and PDL1 in Non-Small Cell Lung Cancer. ''Cancers (Basel)''. 2021 Aug 26; '''13''' (17):
Association between Human Genetic Variants and the Vaginal Bacteriome of Pregnant Women. Description: Fan, Wei, et al. Association between Human Genetic Variants and the Vaginal Bacteriome of Pregnant Women. ''mSystems''. 2021 Aug 31; '''6''' (4):e0015821
Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. Description: Thygesen, Johan H, et al. Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study. ''Mol Psychiatry''. 2021 Sep; '''26''' (9):5307-5319
Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. Description: Saarentaus, Elmo Christian, et al. Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants. ''Mol Psychiatry''. 2021 Sep; '''26''' (9):4884-4895
Parity associates with chromosomal damage in uterine leiomyomas. Description: Kuisma, Heli, et al. Parity associates with chromosomal damage in uterine leiomyomas. ''Nat Commun''. 2021 Sep 14; '''12''' (1):5448
NRXN1alpha(+/-) is associated with increased excitability in ASD iPSC-derived neurons. Description: Avazzadeh, Sahar, et al. NRXN1alpha(+/-) is associated with increased excitability in ASD iPSC-derived neurons. ''BMC Neurosci''. 2021 Sep 15; '''22''' (1):56
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. Description: van Eyk, C L, et al. Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. ''NPJ Genom Med''. 2021 Sep 16; '''6''' (1):74
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). Description: Schierbaum, Luca M, et al. Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO). ''Genes (Basel)''. 2021 Sep 20; '''12''' (9):
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Description: Mahjani, Behrang, et al. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. ''Mol Autism''. 2021 Oct 6; '''12''' (1):65
Whole genome copy number analyses reveal a highly aberrant genome in TP53 mutant lung adenocarcinoma tumors. Description: Bjaanaes, Maria Moksnes, et al. Whole genome copy number analyses reveal a highly aberrant genome in TP53 mutant lung adenocarcinoma tumors. ''BMC Cancer''. 2021 Oct 9; '''21''' (1):1089
Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Description: Jensen, Matthew, et al. Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. ''Genome Med''. 2021 Oct 18; '''13''' (1):163
Genome-wide association analyses of carcass traits using copy number variants and raw intensity values of single nucleotide polymorphisms in cattle. Description: Rafter, Pierce, et al. Genome-wide association analyses of carcass traits using copy number variants and raw intensity values of single nucleotide polymorphisms in cattle. ''BMC Genomics''. 2021 Oct 23; '''22''' (1):757
Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma. Description: Zamani-Ahmadmahmudi, Mohamad, et al. Prognostic efficacy of the RTN1 gene in patients with diffuse large B-cell lymphoma. ''Sci Rep''. 2021 Oct 26; '''11''' (1):21098
CDKN2A deletion is a frequent event associated with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS). Description: Maura, Francesco, et al. CDKN2A deletion is a frequent event associated with poor outcome in patients with peripheral T-cell lymphoma not otherwise specified (PTCL-NOS). ''Haematologica''. 2021 Nov 1; '''106''' (11):2918-2926
Gut microbiota is associated with bone mineral density : an observational and genome-wide environmental interaction analysis in the UK Biobank cohort. Description: Cheng, Bolun, et al. Gut microbiota is associated with bone mineral density : an observational and genome-wide environmental interaction analysis in the UK Biobank cohort. ''Bone Joint Res''. 2021 Nov; '''10''' (11):734-741
Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. Description: Lavrichenko, Ksenia, et al. Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data. ''BMC Genomics''. 2021 Nov 17; '''22''' (1):826
Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Description: Urresti, Jorge, et al. Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. ''Mol Psychiatry''. 2021 Dec; '''26''' (12):7560-7580
Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree. Description: Halvorsen, Matthew, et al. Elevated common variant genetic risk for tourette syndrome in a densely-affected pedigree. ''Mol Psychiatry''. 2021 Dec; '''26''' (12):7522-7529
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia. Description: Chong, Michael, et al. GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia. ''Elife''. 2022 Jan 13; '''11''':
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. Description: Sanders, Bret, et al. Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants. ''Nat Commun''. 2022 Jan 14; '''13''' (1):27
Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure. Description: Balague-Dobon, Laura, et al. Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure. ''Brief Bioinform''. 2022 Mar 10; '''23''' (2):
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. Description: Verdi, Giavanna, et al. A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay. ''Mol Genet Genomic Med''. 2022 Apr; '''10''' (4):e1900
The individual and global impact of copy-number variants on complex human traits. Description: Auwerx, Chiara, et al. The individual and global impact of copy-number variants on complex human traits. ''Am J Hum Genet''. 2022 Apr 7; '''109''' (4):647-668
Genome-wide identification of copy number variation and association with fat deposition in thin and fat-tailed sheep breeds. Description: Taghizadeh, Shadan, et al. Genome-wide identification of copy number variation and association with fat deposition in thin and fat-tailed sheep breeds. ''Sci Rep''. 2022 May 25; '''12''' (1):8834
Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene. Description: Liu, Jie, et al. Autosomal dominant lateral temporal epilepsy in a family exhibiting a rare heterozygous mutation and deletion in the leucine-rich glioma inactivated 1 gene. ''Neurosci Lett''. 2022 Jun 21; '''782''': 136698
Assessment of burden and segregation profiles of CNVs in patients with epilepsy. Description: Moreau, Claudia, et al. Assessment of burden and segregation profiles of CNVs in patients with epilepsy. ''Ann Clin Transl Neurol''. 2022 Jul; '''9''' (7):1050-1058
Genetic analysis reveals novel variants for vascular cognitive impairment. Description: Monkare, Saana, et al. Genetic analysis reveals novel variants for vascular cognitive impairment. ''Acta Neurol Scand''. 2022 Jul; '''146''' (1):42-50
Genome-wide elucidation of CNV regions and their association with production and reproduction traits in composite Vrindavani cattle. Description: Ahmad, Sheikh Firdous, et al. Genome-wide elucidation of CNV regions and their association with production and reproduction traits in composite Vrindavani cattle. ''Gene''. 2022 Jul 1; '''830''': 146510
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population. Description: Kingdom, Rebecca, et al. Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population. ''Am J Hum Genet''. 2022 Jul 7; '''109''' (7):1308-1316
Refinement of computational identification of somatic copy number alterations using DNA methylation microarrays illustrated in cancers of unknown primary. Description: Blecua, Pedro, et al. Refinement of computational identification of somatic copy number alterations using DNA methylation microarrays illustrated in cancers of unknown primary. ''Brief Bioinform''. 2022 Sep 20; '''23''' (5):
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. Description: Yuan, Bo, et al. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits. ''Genome Med''. 2022 Sep 30; '''14''' (1):113
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Description: Hakkaart, Christopher, et al. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. ''Commun Biol''. 2022 Oct 6; '''5''' (1):1061
A Polynesian-specific copy number variant encompassing the MICA gene associates with gout. Description: Wang, Ke, et al. A Polynesian-specific copy number variant encompassing the MICA gene associates with gout. ''Hum Mol Genet''. 2022 Oct 28; '''31''' (21):3757-3768
Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. Description: Chear, Sueanne, et al. Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons. ''Dis Model Mech''. 2022 Dec 1; '''15''' (12):
Rare copy number variation in posttraumatic stress disorder. Description: Maihofer, Adam X, et al. Rare copy number variation in posttraumatic stress disorder. ''Mol Psychiatry''. 2022 Dec; '''27''' (12):5062-5069
Genetic landscape of Parkinson's disease and related diseases in Luxembourg. Description: Landoulsi, Zied, et al. Genetic landscape of Parkinson's disease and related diseases in Luxembourg. ''Front Aging Neurosci''. 2023; '''15''': 1282174
Genome-scale copy number variant analysis in schizophrenia patients and controls from South India. Description: Singh, Minali, et al. Genome-scale copy number variant analysis in schizophrenia patients and controls from South India. ''Front Mol Neurosci''. 2023; '''16''': 1268827
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations. Description: Fabian, Julia, et al. Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations. ''Eur J Hum Genet''. 2023 Jan; '''31''' (1):105-111
Identification of copy number variations in the genome of Dairy Gir cattle. Description: Braga, Larissa G, et al. Identification of copy number variations in the genome of Dairy Gir cattle. ''PLoS One''. 2023; '''18''' (4):e0284085
Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men. Description: Garcia-Gonzalez, Pablo, et al. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer's Disease Aetiopathogenesis in Men. ''Int J Mol Sci''. 2023 Jan 4; '''24''' (2):
The impact of 22q11.2 copy-number variants on human traits in the general population. Description: Zamariolli, Malu, et al. The impact of 22q11.2 copy-number variants on human traits in the general population. ''Am J Hum Genet''. 2023 Feb 2; '''110''' (2):300-313
Genetic regulation of fetal hemoglobin across global populations. Description: Cato, Liam D, et al. Genetic regulation of fetal hemoglobin across global populations. ''medRxiv''. 2023 Mar 28;
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. Description: Sperandeo, Alessandra, et al. Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia. ''Brain''. 2023 Apr 19; '''146''' (4):1523-1541
Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. Description: Glessner, Joseph T, et al. Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders. ''J Neurodev Disord''. 2023 Apr 29; '''15''' (1):14
Recurrent 17q12 microduplications contribute to renal disease but not diabetes. Description: Cannon, Stuart, et al. Recurrent 17q12 microduplications contribute to renal disease but not diabetes. ''J Med Genet''. 2023 May; '''60''' (5):491-497
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients. Description: Zhou, Wei, et al. Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients. ''J Bone Miner Res''. 2023 Jun; '''38''' (6):896-906
Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence. Description: Kopal, Jakub, et al. Rare CNVs and phenome-wide profiling highlight brain structural divergence and phenotypical convergence. ''Nat Hum Behav''. 2023 Jun; '''7''' (6):1001-1017
Common genetic variants contribute to heritability of age at onset of schizophrenia. Description: Sada-Fuente, Ester, et al. Common genetic variants contribute to heritability of age at onset of schizophrenia. ''Transl Psychiatry''. 2023 Jun 13; '''13''' (1):201
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs. Description: Gracia-Diaz, Carolina, et al. High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs. ''bioRxiv''. 2023 Jun 26;
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Description: Tenney, Alan P, et al. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. ''Nat Genet''. 2023 Jul; '''55''' (7):1149-1163
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Description: Montanucci, Ludovica, et al. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. ''Nat Commun''. 2023 Jul 20; '''14''' (1):4392
Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2. Description: Littleton, Sheridan H, et al. Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2. ''bioRxiv''. 2023 Aug 22;
Association of mitochondrial DNA copy number with chronic kidney disease in older adults. Description: Liu, Yang, et al. Association of mitochondrial DNA copy number with chronic kidney disease in older adults. ''BMC Geriatr''. 2023 Aug 24; '''23''' (1):514
Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments. Description: Alibutud, Rohan, et al. Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments. ''Int J Mol Sci''. 2023 Aug 26; '''24''' (17):
Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve. Description: Carlisle, Steven G, et al. Rare Genomic Copy Number Variants Implicate New Candidate Genes for Bicuspid Aortic Valve. ''medRxiv''. 2023 Oct 24;
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder. Description: Bacchelli, Elena, et al. Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder. ''Res Sq''. 2023 Oct 28;
Genetic Association Analysis of Copy Number Variations for Meat Quality in Beef Cattle. Description: Wu, Jiayuan, et al. Genetic Association Analysis of Copy Number Variations for Meat Quality in Beef Cattle. ''Foods''. 2023 Oct 31; '''12''' (21):
Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study. Description: Pachchek, Sinthuja, et al. Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson's study. ''NPJ Parkinsons Dis''. 2023 Nov 23; '''9''' (1):156
A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders. Description: Detera-Wadleigh, Sevilla D, et al. A resource of induced pluripotent stem cell (iPSC) lines including clinical, genomic, and cellular data from genetically isolated families with mood and psychotic disorders. ''Transl Psychiatry''. 2023 Dec 16; '''13''' (1):397
Descriptive Statistics and Genome-Wide Copy Number Analysis of Milk Production Traits of Jiangsu Chinese Holstein Cows. Description: Zhu, Hao, et al. Descriptive Statistics and Genome-Wide Copy Number Analysis of Milk Production Traits of Jiangsu Chinese Holstein Cows. ''Animals (Basel)''. 2023 Dec 19; '''14''' (1):
Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach. Description: Goh, Chul Jun, et al. Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach. ''Diagnostics (Basel)''. 2023 Dec 29; '''14''' (1):
Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip. Description: Gan, Pamela, et al. Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip. ''Front Pharmacol''. 2024; '''15''': 1349203
Rare copy number variation in autoimmune Addison's disease. Description: Artaza, Haydee, et al. Rare copy number variation in autoimmune Addison's disease. ''Front Immunol''. 2024; '''15''': 1374499
A Burden of Rare Copy Number Variants in Obsessive-Compulsive Disorder. Description: Halvorsen, Matthew, et al. A Burden of Rare Copy Number Variants in Obsessive-Compulsive Disorder. ''Res Sq''. 2024 Jan 3;
Rare copy-number variants as modulators of common disease susceptibility. Description: Auwerx, Chiara, et al. Rare copy-number variants as modulators of common disease susceptibility. ''Genome Med''. 2024 Jan 8; '''16''' (1):5
Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle. Description: Benfica, Lorena F, et al. Genome-wide association study between copy number variation and feeding behavior, feed efficiency, and growth traits in Nellore cattle. ''BMC Genomics''. 2024 Jan 11; '''25''' (1):54
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates. Description: Viggiano, Marta, et al. Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates. ''NPJ Genom Med''. 2024 Mar 22; '''9''' (1):21
Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance. Description: Subramanian, Krithika, et al. Landscape of genomic structural variations in Indian population-based cohorts: Deeper insights into their prevalence and clinical relevance. ''HGG Adv''. 2024 Mar 23; '''5''' (3):100285
Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. Description: Nyaga, Denis M, et al. Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. ''Epilepsia Open''. 2024 Apr; '''9''' (2):758-764
The copy number variant architecture of psychopathology and cognitive development in the ABCD((R)) study. Description: Sha, Zhiqiang, et al. The copy number variant architecture of psychopathology and cognitive development in the ABCD((R)) study. ''medRxiv''. 2024 May 15;
Copy number deletion of PLA2G4A affects the susceptibility and clinical phenotypes of schizophrenia. Description: Gao, Zibo, et al. Copy number deletion of PLA2G4A affects the susceptibility and clinical phenotypes of schizophrenia. ''Schizophrenia (Heidelb)''. 2024 May 30; '''10''' (1):55
Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia. Description: Sun, Yaoyao, et al. Contribution of copy number variants on antipsychotic treatment response in Han Chinese patients with schizophrenia. ''EBioMedicine''. 2024 Jul; '''105''': 105195
Association of neurotransmitter pathway polygenic risk with specific symptom profiles in psychosis. Description: Warren, Tracy L, et al. Association of neurotransmitter pathway polygenic risk with specific symptom profiles in psychosis. ''Mol Psychiatry''. 2024 Aug; '''29''' (8):2389-2398
Genome-wide association study of copy number variations in Parkinson's disease. Description: Landoulsi, Zied, et al. Genome-wide association study of copy number variations in Parkinson's disease. ''medRxiv''. 2024 Aug 22;
Genetic modifiers and ascertainment drive variable expressivity of complex disorders. Description: Jensen, Matthew, et al. Genetic modifiers and ascertainment drive variable expressivity of complex disorders. ''medRxiv''. 2024 Aug 28;
Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank. Description: Dinneen, Thomas J, et al. Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank. ''NPJ Genom Med''. 2024 Sep 28; '''9''' (1):43
Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants. Description: Vaez, Morteza, et al. Population-Based Risk of Psychiatric Disorders Associated With Recurrent Copy Number Variants. ''JAMA Psychiatry''. 2024 Oct 1; '''81''' (10):957-966
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. Description: Ceroni, Fabiola, et al. Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development. ''Nat Commun''. 2024 Oct 26; '''15''' (1):9245