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M-DATA: A statistical approach to jointly analyzing de novo mutations for multiple traits.

• Authors : Xie Y; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, United States of America.; Li M

Subjects: Data Interpretation, Statistical* ; Mutation*; Autistic Disorder/Autistic Disorder/Autistic Disorder/*genetics

• Source: PLoS genetics [PLoS Genet] 2021 Nov 04; Vol. 17 (11), pp. e1009849. Date of Electronic Publication: 2021 Nov 04 (Print Publication: 2021).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet

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Investigation of de novo mutations in a schizophrenia case-parent trio by induced pluripotent stem cell-based in vitro disease modeling: convergence of schizophrenia- and autism-related cellular phenotypes.

• Authors : Hathy E; National Brain Research Project (NAP) Molecular Psychiatry Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary.; Szabó E

Subjects: Autistic Disorder* ; Induced Pluripotent Stem Cells* ; Schizophrenia*/Schizophrenia*/Schizophrenia*/genetics

• Source: Stem cell research & therapy [Stem Cell Res Ther] 2020 Nov 27; Vol. 11 (1), pp. 504. Date of Electronic Publication: 2020 Nov 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101527581 Publication Model: Electronic Cited Medium: Internet ISSN: 1757-6512

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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

• Authors : Antaki, Danny; Guevara, James; Maihofer, Adam X

Subjects: Biological Sciences; Genetics; Brain Disorders

• Source: Nature Genetics. 54(9)

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M-DATA: A Statistical Approach to Jointly Analyzing De Novo Mutations for Multiple Traits

• Authors : Yuhan Xie; Mo Li; Weilai Dong

Subjects: Heart Defects, Congenital; 0301 basic medicine; 0303 health sciences

• Source: PLoS GenetPLoS Genetics, Vol 17, Iss 11 (2021)PLoS Genetics, Vol 17, Iss 11, p e1009849 (2021)

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Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

• Authors : Anastassiya Perfilyeva; Kira Bespalova; Yuliya Perfilyeva

Subjects: Ankyrins; Genetic Markers; 0303 health sciences

• Source: Dis Markers

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A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

• Authors : Danny Antaki; James Guevara; Adam X. Maihofer

Subjects: Male; Multifactorial Inheritance; Autism Spectrum Disorder

• Source: Nat GenetNature Genetics, vol 54, iss 9Antaki, D, Guevara, J, Maihofer, A X, Klein, M, Gujral, M, Grove, J, Carey, C E, Hong, O, Arranz, M J, Hervas, A, Corsello, C, Vaux, K K, Muotri, A

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

• Authors : Jin, Sheng Chih; Homsy, Jason; Zaidi, Samir

Subjects: Biological Sciences; Genetics; Pediatric

• Source: Nature Genetics. 49(11)

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Genomic Patterns of De Novo Mutation in Simplex Autism

• Authors : Turner, Tychele N; Coe, Bradley P; Dickel, Diane E

Subjects: Biological Sciences; Bioinformatics and Computational Biology; Biomedical and Clinical Sciences

• Source: Cell. 171(3)

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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

• Authors : Marcogliese P. C.; Deal S. L.; Andrews J. ...

Subjects: autism spectrum disorder; Drosophila melanogaster; functional genomic

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Autism-associated CHD8 keeps proliferation of human neural progenitors in check by lengthening the G1 phase of the cell cycle

• Authors : Emma Coakley-Youngs; Medhavi Ranatunga; Simon Richardson

Subjects: 0301 basic medicine; chd8; QH301-705.5

• Source: Biol OpenBiology Open, Vol 11, Iss 9 (2022)

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