PubMed Mentions
The links below are to publications on PubMed referring to PennCNV. This list is gathered weekly from PubMed automatically and was last updated on December 17, 2025.
| Publication/References | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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): | |
| Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients. Description: Harvey, Annabelle, et al. Challenges in multi-task learning for fMRI-based diagnosis: Benefits for psychiatric conditions and CNVs would likely require thousands of patients. ''Imaging Neurosci (Camb)''. 2024; '''2''': | |
| 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 | |
| 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 | |
| Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. Description: Huguet, Guillaume, et al. Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. ''Cell Genom''. 2024 Dec 11; '''4''' (12):100721 | |
| Clinical, laboratory and genetic factors associated with smoking in a Brazilian Sickle Cell Disease (SCD) cohort. Description: Cruz, Theomario, et al. Clinical, laboratory and genetic factors associated with smoking in a Brazilian Sickle Cell Disease (SCD) cohort. ''PLoS One''. 2025; '''20''' (9):e0332305 | |
| Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. Description: Flanagan, Sarah E, et al. Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testing. ''Front Endocrinol (Lausanne)''. 2025; '''16''': 1514916 | |
| Copy number variants and the tangential expansion of the cerebral cortex. Description: Liao, Zhijie, et al. Copy number variants and the tangential expansion of the cerebral cortex. ''Nat Commun''. 2025 Feb 17; '''16''' (1):1697 | |
| Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study. Description: Foddis, Marco, et al. Ide Copy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study. ''Stroke''. 2025 Mar; '''56''' (3):725-736 | |
| A burden of rare copy number variants in obsessive-compulsive disorder. Description: Halvorsen, Matthew W, et al. A burden of rare copy number variants in obsessive-compulsive disorder. ''Mol Psychiatry''. 2025 Apr; '''30''' (4):1510-1517 | |
| Detecting and characterizing copy number variation in a large commercial U.S. Holstein cattle population. Description: Ladeira, Giovanni C, et al. Detecting and characterizing copy number variation in a large commercial U.S. Holstein cattle population. ''BMC Genomics''. 2025 Apr 16; '''26''' (1):381 | |
| Genome-wide copy number variation association study in anorexia nervosa. Description: Walker, Alicia, et al. Genome-wide copy number variation association study in anorexia nervosa. ''Mol Psychiatry''. 2025 May; '''30''' (5):2009-2016 | |
| Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More Than Other Broad Autism Phenotype Traits. Description: Xing, Jinchuan, et al. Narrow Versus Broad Phenotype Definitions Affect Genetic Analysis of Language More Than Other Broad Autism Phenotype Traits. ''Res Sq''. 2025 May 6; | |
| New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines. Description: Fernandez-Suarez, Elena, et al. New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines. ''NPJ Genom Med''. 2025 Jul 2; '''10''' (1):52 | |
| MarkerMatch: A Proximity-Based Probe-Matching Algorithm for Joint Analysis of Copy-Number Variants from Different Genotyping Arrays. Description: Ivankovic, Franjo, et al. MarkerMatch: A Proximity-Based Probe-Matching Algorithm for Joint Analysis of Copy-Number Variants from Different Genotyping Arrays. ''bioRxiv''. 2025 Jul 4; | |
| 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''. 2025 Jul 8; | |
| Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects. Description: Engchuan, Worrawat, et al. Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects. ''medRxiv''. 2025 Jul 16; | |
| Large-scale copy number variant analysis in genes linked to Parkinson s disease. Description: Landoulsi, Zied, et al. Large-scale copy number variant analysis in genes linked to Parkinson s disease. ''NPJ Parkinsons Dis''. 2025 Aug 1; '''11''' (1):225 | |
| Exome analysis links kidney malformations to developmental disorders and reveals causal genes. Description: Milo Rasouly, Hila, et al. Exome analysis links kidney malformations to developmental disorders and reveals causal genes. ''Nat Commun''. 2025 Aug 7; '''16''' (1):7290 | |
| Modeling common Alzheimer's disease with high and low polygenic risk in human iPSC: A large-scale research resource. Description: Maguire, Emily, et al. Modeling common Alzheimer's disease with high and low polygenic risk in human iPSC: A large-scale research resource. ''Stem Cell Reports''. 2025 Aug 12; '''20''' (8):102570 | |
| The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice. Description: Hale, Evan B, et al. The TECTB-C225Y Variant Causing Autosomal Dominant Deafness in a Nicaraguan Family Enhances Sensitivity to Noise-Induced Hearing Loss in Mice. ''medRxiv''. 2025 Aug 14; | |
| Persistent Tic Disorders Are Associated With 17q12 Duplications. Description: Halvorsen, Matthew, et al. Persistent Tic Disorders Are Associated With 17q12 Duplications. ''Res Sq''. 2025 Aug 19; | |
| Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate. Description: Rammos, Alexandros, et al. Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate. ''Hum Mol Genet''. 2025 Sep 3; '''34''' (18):1563-1574 | |
| Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis. Description: Gijsbertsen, Max, et al. Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis. ''Dis Model Mech''. 2025 Oct 1; '''18''' (10): | |
| Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank. Description: Kariis, Hanna Maria, et al. Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank. ''Eur J Hum Genet''. 2025 Oct; '''33''' (10):1376-1385 | |
| CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision. Description: Montalbano, Simone, et al. CNValidatron: Accurate And Efficient Validation of PennCNV Calls Using Computer Vision. ''bioRxiv''. 2025 Oct 6; | |
| The interplay between genomic copy number variants, sleep, and cognition in the general population. Description: Poulain, Cecile, et al. The interplay between genomic copy number variants, sleep, and cognition in the general population. ''Transl Psychiatry''. 2025 Oct 6; '''15''' (1):351 | |
| Integrating necroptosis and immune landscapes: a multi-omics-derived NecropImmScore stratifies prognosis and therapy in ovarian cancer. Description: Xu, Fangfang, et al. Integrating necroptosis and immune landscapes: a multi-omics-derived NecropImmScore stratifies prognosis and therapy in ovarian cancer. ''Cancer Immunol Immunother''. 2025 Oct 15; '''74''' (11):340 | |
| Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression. Description: Xiong, Ying, et al. Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression. ''Mol Psychiatry''. 2025 Nov; '''30''' (11):5024-5033 | |
| Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. Description: Li, Dong, et al. Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome. ''Eur J Hum Genet''. 2025 Dec; '''33''' (12):1684-1689 |