ArticleAmerican journal of human genetics2023
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
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Article in American journal of human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11citing papers in PubMed
14.7field-weighted citation impact, top 1% of its field
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11 citing papers in PubMed, 39 citations in OpenAlex.
- Parental haplotype reconstruction in up to 440,209 UK and Estonian individuals reveals recent assortative mating dynamics.Nature human behaviour · 2026Article
- Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study.Molecular autism · 2026Article
- Assortative Mating and Increase in Prevalence and Severity of Autistic Spectrum Disorder in Children-A Systematic Review.Children (Basel, Switzerland) · 2026Review
- First report of an inherited MYCBP2 neurodevelopmental disorder: review of proband and parent presentation.Neurogenetics · 2026Review
- Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Mate selection and current trends in the prevalence of autism.Molecular autism · 2024Article
- Phenotypic and ancestry-related assortative mating in autism.Molecular autism · 2024Article
- Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.BMC medical genomics · 2024Article
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Authors and funding
43 authors at 18 institutions in 6 countries.
Corrine SmolenDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
Matthew JensenDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
Lisa DyerGeneDx, Gaithersburg, MD 20877, USA.
Lucilla PizzoDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Anastasia TyryshkinaDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA.
Deepro BanerjeeDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.
Laura RohanDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Emily HuberDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.
Laila El KhattabiAssistance Publique-Hôpitaux de Paris, Department of Medical Genetics, Armand Trousseau and Pitié-Salpêtrière Hospitals, Paris, France.
Paolo PronteraMedical Genetics Unit, Hospital "Santa Maria della Misericordia", Perugia, Italy.
Jean-Hubert CabergCentre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium.
Anke Van DijckDepartment of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
Charles SchwartzGreenwood Genetic Center, Greenwood, SC 29646, USA.
Laurence FaivreCentre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
Patrick CallierCentre de Genetique et Cenre de Référence Anomalies du développement et syndromes malformatifs, Hôpital d'Enfants, CHU Dijon, Dijon, France; GAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
Anne-Laure Mosca-BoidronLaboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, Dijon, France.
Mathilde LefebvreGAD INSERM UMR1231, FHU TRANSLAD, Université de Bourgogne Franche Comté, Dijon, France.
Kate PopeDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Penny SnellDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Paul J LockhartDepartment of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Bruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Lucia CastigliaResearch Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Ornella GalesiResearch Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Emanuela AvolaResearch Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Teresa MattinaMedical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
Marco FicheraResearch Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy.
Giuseppa Maria Luana MandaràMedical Genetics, ASP Ragusa, Ragusa, Italy.
Maria Grazia BruccheriResearch Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, 94018 Troina, Italy.
Olivier PichonCHU Nantes, Department of Medical Genetics, Nantes, France.
Cedric Le CaignecCHU Toulouse, Department of Medical Genetics, Toulouse, France; ToNIC, Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France.
Radka StoevaService de Cytogenetique, CHU de Le Mans, Le Mans, France.
Silvestre CuinatCHU Nantes, Department of Medical Genetics, Nantes, France.
Sandra MercierCHU Nantes, Department of Medical Genetics, Nantes, France.
Claire BénéteauCHU Nantes, Department of Medical Genetics, Nantes, France.
Sophie BlessonDepartment of Genetics, Bretonneau University Hospital, Tours, France.
Ashley NordslettenDepartment of Psychiatry, University of Michigan, Ann Arbor, MI, USA.
Dominique Martin-CoignardDepartment of Genetics, Bretonneau University Hospital, Tours, France.
Erik SistermansDepartment of Clinical Genetics, Amsterdam UMC, Amsterdam, the Netherlands.
R Frank KooyDepartment of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.
David J AmorBruce Lefroy Center, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Corrado RomanoMedical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, 95123 Catania, Italy; Medical Genetics, ASP Ragusa, Ragusa, Italy.
Bertrand IsidorCHU Nantes, Department of Medical Genetics, Nantes, France.
Jane JuusolaGeneDx, Gaithersburg, MD 20877, USA.
Santhosh GirirajanDepartment of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA; Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA; Neuroscience Graduate Program, Pennsylvania State University, University Park, PA 16802, USA; Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. Electronic address: sxg47@psu.edu.
Pennsylvania State University · USOasi Maria SS · ITInserm · FRThe University of Melbourne · AUUniversity of Catania · ITAntwerp University Hospital · BECentre Hospitalier Universitaire de Tours · FRAmsterdam University Medical Centers · NLCentre Hospitalier du Mans · FRCentre Hospitalier Universitaire de Liège · BEGreenwood Genetic Center · USLaboratoire de Génétique Cellulaire · FRMurdoch Children's Research Institute · AUOspedale Santa Maria · ITSorbonne Université · FRUniversité Toulouse III - Paul Sabatier · FRUniversity of Michigan · USUniversity of Ragusa · IT
Funding
Genomic basis of phenotypic variability of genomic disordersR01GM121907 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI GIRIRAJAN, SANTHOSH · 2017 to 2025
$5.2MComputation, Bioinformatics, and Statistics (CBIOS) Training ProgramT32GM102057 · NIGMS · PENNSYLVANIA STATE UNIVERSITY, THE · PI CHIAROMONTE, FRANCESCA, GIRIRAJAN, SANTHOSH · 2013 to 2022
$2.7MCellular Basis for Genetic Susceptibility to Neurodevelopmental DisordersR21NS122398 · NINDS · PENNSYLVANIA STATE UNIVERSITY, THE · PI GIRIRAJAN, SANTHOSH · 2021 to 2021
$428kNIGMS NIH HHS R01 GM121907NIGMS NIH HHS T32 GM102057NINDS NIH HHS R21 NS122398
Abstract
We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children. We identified within- and cross-disorder correlations between six phenotypes in parents and children, such as obsessive-compulsive disorder (R = 0.32-0.38, p < 10
Indexed as
Autistic DisorderBipolar DisorderChildFamilyHumansParentsVirulenceassortative matingautismcopy-number variantfamily historyliabilityneurodevelopmentpedigreephenotypepolygenicriskvariable expressivity
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.