Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

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Published in Nat Neurosci on June 19, 2017

Authors

Madeleine R Geisheker1, Gabriel Heymann2,3, Tianyun Wang4, Bradley P Coe1, Tychele N Turner5, Holly A F Stessman1, Kendra Hoekzema1, Malin Kvarnung6,7, Marie Shaw8, Kathryn Friend8,9, Jan Liebelt10, Christopher Barnett10,11, Elizabeth M Thompson10,12, Eric Haan10,12, Hui Guo4, Britt-Marie Anderlid6,7, Ann Nordgren6,7, Anna Lindstrand6,7, Geert Vandeweyer13, Antonino Alberti14, Emanuela Avola14, Mirella Vinci15, Stefania Giusto16, Tiziano Pramparo17, Karen Pierce17, Srinivasa Nalabolu17, Jacob J Michaelson18, Zdenek Sedlacek19, Gijs W E Santen20, Hilde Peeters21, Hakon Hakonarson22,23,24, Eric Courchesne17, Corrado Romano25, R Frank Kooy13, Raphael A Bernier3, Magnus Nordenskjöld6,7, J Gecz26,27, Kun Xia4, Larry S Zweifel2,3, Evan E Eichler1,28

Author Affiliations

1: Department of Genome Sciences, University of Washington, Seattle, Washington, USA.
2: Department of Pharmacology, University of Washington, Seattle, Washington, USA.
3: Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, Washington, USA.
4: The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.
5: Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA tychele@u.washington.edu.
6: Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
7: Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
8: Robinson Research Institute and the University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia.
9: SA Pathology, Adelaide, South Australia, Australia.
10: South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, South Australia, Australia.
11: School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, South Australia, Australia.
12: School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
13: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
14: Unit of Pediatrics &Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
15: Laboratory of Medical Genetics, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
16: Unit of Neurology, IRCCS Associazione Oasi Maria Santissima, Troina, Italy.
17: University of California, San Diego, Autism Center of Excellence, La Jolla, California, USA.
18: Department of Psychiatry, The University of Iowa, Iowa City, Iowa, USA.
19: Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.
20: Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.
21: Centre for Human Genetics, KU Leuven and Leuven Autism Research, Leuven, Belgium.
22: Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
23: Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
24: Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
25: IRCCS Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, EN, Italy.
26: School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, SA, Australia.
27: Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
28: Howard Hughes Medical Institute, Seattle, Washington, USA.

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