De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms-Reference-Cited by-同舟云学术

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

Published:2018-01-25 Issue:5 Volume:93 Page:1030-1038
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Powis Z.¹^ORCID,Petrik I.¹,Cohen J.S.²,Escolar D.²,Burton J.³,van Ravenswaaij-Arts C.M.A.⁴,Sival D.A.⁵,Stegmann A.P.A.⁶⁷,Kleefstra T.⁶,Pfundt R.⁶,Chikarmane R.⁸,Begtrup A.⁸,Huether R.¹^ORCID,Tang S.¹,Shinde D.N.¹

Affiliation:

1. Ambry Genetics; Aliso Viejo California

2. Kennedy Krieger Institute; Baltimore Maryland

3. University of Illinois College of Medicine at Peoria; Peoria Illinois

4. Department of Genetics; University of Groningen, University Medical Center Groningen; Groningen The Netherlands

5. Department of Neurology; University of Groningen, University Medical Center Groningen; Groningen The Netherlands

6. Clinical Genetics; Maastricht University Medical Center; Maastricht The Netherlands

7. Department of Genetics; Radboud University Medical Center; Nijmegen The Netherlands

8. GeneDx; Gaithersburg Maryland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13198/fullpdf

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4. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions;Farwell;Genet Med,2015

5. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation;Rauch;Am J Med Genet A,2006

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