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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and CHD8[original query]
Disruptive CHD8 mutations define a subtype of autism early in development.
Cell 2014 Jul 158 (2): 263-76.
Bernier Raphael, Golzio Christelle, Xiong Bo, Stessman Holly A, Coe Bradley P, Penn Osnat, Witherspoon Kali, Gerdts Jennifer, Baker Carl, Vulto-van Silfhout Anneke T, Schuurs-Hoeijmakers Janneke H, Fichera Marco, Bosco Paolo, Buono Serafino, Alberti Antonino, Failla Pinella, Peeters Hilde, Steyaert Jean, Vissers Lisenka E L M, Francescatto Ludmila, Mefford Heather C, Rosenfeld Jill A, Bakken Trygve, O'Roak Brian J, Pawlus Matthew, Moon Randall, Shendure Jay, Amaral David G, Lein Ed, Rankin Julia, Romano Corrado, de Vries Bert B A, Katsanis Nicholas, Eichler Evan
Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families.
Breast cancer research and treatment 2017 Aug .
Li Jun, Li Hongyan, Makunin Igor, , Thompson Bryony A, Tao Kayoko, Young Erin L, Lopez Jacqueline, Camp Nicola J, Tavtigian Sean V, John Esther M, Andrulis Irene L, Khanna Kum Kum, Goldgar David, Chenevix-Trench Georg
Loss of Chromatin-Remodeling Proteins and/or CDKN2A Associates With Metastasis of Pancreatic Neuroendocrine Tumors and Reduced Patient Survival Times.
Gastroenterology 2018 2 154 (8): 2060-2063.e8.
Roy Somak, LaFramboise William A, Liu Ta-Chiang, Cao Dengfeng, Luvison Alyssa, Miller Caitlyn, Lyons Maureen A, O'Sullivan Roderick J, Zureikat Amer H, Hogg Melissa E, Tsung Allan, Lee Kenneth K, Bahary Nathan, Brand Randall E, Chennat Jennifer S, Fasanella Kenneth E, McGrath Kevin, Nikiforova Marina N, Papachristou Georgios I, Slivka Adam, Zeh Herbert J, Singhi Aatur
Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.
Frontiers in genetics 2018 9 594.
Du Xiujuan, Gao Xueren, Liu Xin, Shen Lixiao, Wang Kai, Fan Yanjie, Sun Yu, Luo Xiaomei, Liu Huili, Wang Lili, Wang Yu, Gong Zhuwen, Wang Jianguo, Yu Yongguo, Li F
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
Biological psychiatry 2019 Oct .
Cappi Carolina, Oliphant Melody E, Péter Zsanett, Zai Gwyneth, Conceição do Rosário Maria, Sullivan Catherine A W, Gupta Abha R, Hoffman Ellen J, Virdee Manmeet, Olfson Emily, Abdallah Sarah B, Willsey A Jeremy, Shavitt Roseli G, Miguel Euripedes C, Kennedy James L, Richter Margaret A, Fernandez Thomas
Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.
Molecular cytogenetics 2022 11 15 (1): 47.
Lengyel Anna, Pinti Éva, Pikó Henriett, Kristóf Árvai, Abonyi Tünde, Némethi Zaránd, Fekete György, Haltrich Ir
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