Prevalence and penetrance of rare pathogenic variants in neurodevelopmental psychiatric genes in a health care system population / Hermela Shimelis en The American Journal of Psychiatry, Año 2023 - Vol. 180 - No. 1 (Enero)

Público ISBD [artículo]  inThe American Journal of Psychiatry > Año 2023 - Vol. 180 - No. 1 (Enero) . - pp. 65-72 Título : Prevalence and penetrance of rare pathogenic variants in neurodevelopmental psychiatric genes in a health care system population Tipo de documento: texto impreso Autores: Hermela Shimelis, Autor ; Matthew T. Oetjens, Autor ; Lauren K. Walsh, Autor Fecha de publicación: 2023 Artículo en la página: pp. 65-72 Idioma : Inglés (eng) Idioma original : Inglés (eng) Palabras clave: Genética-Genómica, Trastornos del neurodesarrollo, Espectro de esquizofrenia, Otros trastornos psicóticos, Trastornos bipolares y relacionados Resumen: Autism, schizophrenia, and other clinically distinct neurodevelopmental psychiatric disorders (NPDs) have shared genetic etiologies, including single-gene and multigenic copy number variants (CNVs). Because rare variants are primarily investigated in clinical cohorts, population-based estimates of their prevalence and penetrance are lacking. Link: ./index.php?lvl=notice_display&id=29790 [artículo] Prevalence and penetrance of rare pathogenic variants in neurodevelopmental psychiatric genes in a health care system population [texto impreso] / Hermela Shimelis, Autor ; Matthew T. Oetjens, Autor ; Lauren K. Walsh, Autor . - 2023 . - pp. 65-72. Idioma : Inglés (eng) Idioma original : Inglés (eng) in The American Journal of Psychiatry > Año 2023 - Vol. 180 - No. 1 (Enero) . - pp. 65-72 Palabras clave: Genética-Genómica, Trastornos del neurodesarrollo, Espectro de esquizofrenia, Otros trastornos psicóticos, Trastornos bipolares y relacionados Resumen: Autism, schizophrenia, and other clinically distinct neurodevelopmental psychiatric disorders (NPDs) have shared genetic etiologies, including single-gene and multigenic copy number variants (CNVs). Because rare variants are primarily investigated in clinical cohorts, population-based estimates of their prevalence and penetrance are lacking. Link: ./index.php?lvl=notice_display&id=29790

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