Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Autor: Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K.

Publikováno v: Nature communications, vol 11, iss 1
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case–control mutation burden analysis is unestablished. Here, we sequence 63 genes in 16,294 NDD cases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd59829750fcbc0b802de5b3fb7bdab7
https://escholarship.org/uc/item/9mh106j1

Effective Prompts for Profiling

Autor: Catford, R. A. G.

Publikováno v: Teaching Geography, 1990 Oct 01. 15(4), 163-165.

Externí odkaz: https://www.jstor.org/stable/23751995

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Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Autor: Wang T; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Hoekzema K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Vecchio D; Rare Disease and Medical Genetics, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, Rome, Italy.; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy., Wu H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Sulovari A; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Coe BP; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Gillentine MA; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Wilfert AB; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Perez-Jurado LA; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Genetics Unit, Universitat Pompeu Fabra, Hospital del Mar Research Institute (IMIM) and CIBERER, Barcelona, Spain., Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Sleyp Y; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium., Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Rosenfeld JA; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Geisheker MR; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Han L; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Du B; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Barnett C; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia., Thompson E; Paediatric and Reproductive Genetics unit, Women's and Children's Hospital, Adelaide, SA, Australia., Shaw M; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia., Carroll R; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Catford R; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Palmer EE; Genetics of Learning Disability Service, Hunter New England Health Service, Waratah, NSW, Australia.; School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia., Zou X; Children Development Behavior Center, The Third Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong, China., Ou J; Mental Health Institute of the Second Xiangya Hospital, Central South University, Changsha, China., Li H; Key Laboratory of Developmental Disorders in Children, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou, China., Guo H; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China., Gerdts J; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Avola E; Oasi Research Institute-IRCCS, Troina, Italy., Calabrese G; Oasi Research Institute-IRCCS, Troina, Italy., Elia M; Oasi Research Institute-IRCCS, Troina, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Anderlid BM; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Van der Aa N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., McKenna B; Department of Psychology, Emory University, Atlanta, GA, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Havlovicova M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Malerba G; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Bernardina BD; Child Neuropsychiatry Unit, AOUI, Verona, Italy., Muglia P; UCB Pharma, Bruxelles, Belgium., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands., Hoffer MJV; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands., Franke B; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands., Cappuccio G; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Delatycki M; Murdoch Children's Research Institute, Melbourne, Australia., Lockhart PJ; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Parkville, VIC, Australia., Manning MA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Department of Pathology, Stanford University, Stanford, CA, USA., Liu P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Scheffer IE; Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia.; The Florey Institute of Neuroscience and Mental Health, Parkville, VIC, Australia., Brunetti-Pierri N; Department of Translational Medicine, Federico II University, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples, Italy., Rommelse N; Department of Psychiatry, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Karakter Child and Adolescent Psychiatry Center, Nijmegen, Netherlands., Amaral DG; Department of Psychiatry and Behavioral Sciences and the MIND Institute, University of California, Davis, Sacramento, CA, USA., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, Netherlands., Trabetti E; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy., Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Michaelson JJ; Department of Psychiatry, University of Iowa Carver College of Medicine, Iowa City, IA, USA., Pierce K; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA., Courchesne E; Department of Neurosciences, UC San Diego Autism Center, School of Medicine, University of California San Diego, La Jolla, CA, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden., Romano C; Oasi Research Institute-IRCCS, Troina, Italy., Peeters H; Centre for Human Genetics, KU Leuven and Leuven Autism Research (LAuRes), Leuven, Belgium., Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Gecz J; South Australian Health and Medical Research Institute, Adelaide, SA, Australia.; Adelaide Medical School and the Robinson Research Institute, the University of Adelaide, Adelaide, SA, Australia.; Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia., Xia K; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; CAS Center for Excellence in Brain Science and Intelligences Technology (CEBSIT), Chinese Academy of Sciences, Shanghai, China., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA. eee@gs.washington.edu.

Publikováno v: Nature communications [Nat Commun] 2020 Oct 21; Vol. 11 (1), pp. 5398. Date of Electronic Publication: 2020 Oct 21.