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Publication : the american journal of human genetics

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Academic Journal

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline

Authors : Wood, Katherine A; Tong, R Spencer; Motta, Marialetizia ...

Subjects: Male; Adult; 0301 basic medicine

Source: Am J Hum Genet

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De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders

Authors : van de Wiel, L.J.M.; Hampstead, J.E.; Venselaar, H.

Subjects: Radboudumc 6: Metabolic Disorders Human Genetics; 0301 basic medicine; 03 medical and health sciences

Source: American Journal of Human Genetics, 110, 1, pp. 92-104

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Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

Authors : Madison R. Bishop; Kimberly K. Diaz Perez; Miranda Sun

Subjects: Male; 0301 basic medicine; Whole Genome Sequencing

Source: The American Journal of Human Genetics. 107:124-136

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Academic Journal

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Authors : Tychele N. Turner; Evan E. Eichler; Rebecca I. Torene

Subjects: Genetic Markers; Male; 0303 health sciences

Source: The American Journal of Human Genetics. 105:1274-1285

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Authors : Nicole Corsten-Janssen; Jill A. Rosenfeld; Seema R. Lalani ...

Subjects: Male; 0301 basic medicine; DIPHOSPHATE SYNTHASE

Source: American Journal of Human Genetics, 101, 5, pp. 664-685American Journal of Human GeneticsAmerican Journal of Human Genetics, Elsevier (Cell Press), 2017, 101 (5), pp.664-685.

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Academic Journal

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

Authors : Hamdan, FF Hamdan, Fadi F.; Gauthier, J Gauthier, Julie; Araki, Y Araki, Yoichi

Subjects: Male; 0301 basic medicine; RNA Splicing

Source: The American Journal of Human Genetics. 88:306-316

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Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

Authors : Alexander R. Griffing; Adam R. Boyko; Fadi F. Hamdan

Subjects: Male; 0303 health sciences; DNA Mutational Analysis

Source: The American Journal of Human Genetics. 87:316-324

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