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De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
- Susan M. Hiatt ,
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Matthew B. Neu ,
Contributed equally to this work with: Susan M. Hiatt, Matthew B. Neu
Roles Formal analysis, Investigation, Visualization, Writing – review & editing
Affiliations HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America
⨯ - Ryne C. Ramaker,
- Andrew A. Hardigan,
-
Jeremy W. Prokop,
Roles Investigation, Software
Affiliation Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI, United States of America
⨯ -
Miroslava Hancarova,
Roles Investigation
Affiliation Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic
⨯ - Darina Prchalova,
- Marketa Havlovicova,
- Jan Prchal,
-
Viktor Stranecky,
Roles Data curation, Software
Affiliation Department of Pediatrics and Adolescent Medicine, Diagnostic and Research Unit for Rare Diseases, Charles University 1st Faculty of Medicine and General University Hospital, Prague, Czech Republic
⨯ - Dwight K. C. Yim,
-
Zöe Powis,
Roles Investigation
Affiliation Department of Emerging Genetic Medicine, Ambry Genetics, Aliso Viejo, CA, United States of America
⨯ -
Boris Keren,
Roles Investigation
Affiliation Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
⨯ -
Caroline Nava,
Roles Investigation
Affiliation Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France
⨯ -
Cyril Mignot,
Roles Investigation
Affiliations Department of Genetics, La Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France, Groupe de Recherche Clinique UPMC "Déficience Intellectuelle et Autisme", Paris, France
⨯ -
Marlene Rio,
Roles Investigation
Affiliations Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France, Assistance Publique-Hôpitaux de Paris, service de Génétique, Hôpital Necker-Enfants-Malades, Paris, France
⨯ - Anya Revah-Politi,
-
Parisa Hemati,
Roles Investigation
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
⨯ -
Nicholas Stong,
Roles Investigation
Affiliation Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, United States of America
⨯ - Alejandro D. Iglesias,
- Sharon F. Suchy,
- Rebecca Willaert,
- Ingrid M. Wentzensen,
- Patricia G. Wheeler,
-
Lauren Brick,
Roles Investigation
Affiliation Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada
⨯ - Mariya Kozenko,
-
Anna C. E. Hurst,
Roles Investigation
Affiliation Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States of America
⨯ - James W. Wheless,
- Yves Lacassie,
- Richard M. Myers,
-
Gregory S. Barsh,
Roles Writing – review & editing
Affiliation HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America
⨯ - Zdenek Sedlacek,
- [ ... ],
-
Gregory M. Cooper
Roles Conceptualization, Formal analysis, Funding acquisition, Supervision, Visualization, Writing – review & editing
* E-mail: gcooper@hudsonalpha.org
Affiliation HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States of America
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http://orcid.org/0000-0003-0808-6921
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay
- Susan M. Hiatt,
- Matthew B. Neu,
- Ryne C. Ramaker,
- Andrew A. Hardigan,
- Jeremy W. Prokop,
- Miroslava Hancarova,
- Darina Prchalova,
- Marketa Havlovicova,
- Jan Prchal,
- Viktor Stranecky
-
- Published: November 30, 2018
- https://doi.org/10.1371/journal.pgen.1007671
- See the preprint