SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum-Reference-Cited by-同舟云学术

SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum

Published:2015-07-28 Issue:4 Volume:88 Page:327-335
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Heimer G.¹²,Marek-Yagel D.³,Eyal E.⁴,Barel O.⁴,Oz Levi D.⁵,Hoffmann C.⁶,Ruzzo E.K.⁷,Ganelin-Cohen E.¹,Lancet D.⁵,Pras E.⁸⁹,Rechavi G.⁴⁹,Nissenkorn A.¹⁹,Anikster Y.³⁹,Goldstein D.B.¹⁰,Ben Zeev B.¹⁹

Affiliation:

1. Pediatric Neurology Unit; Edmond and Lily Safra Children's Hospital; Ramat Gan Israel

2. The Pinchas Borenstein Talpiot Medical Leadership Program; Ramat Gan Israel

3. Metabolic Disease Unit; Edmond and Lily Safra Children's Hospital; Ramat Gan Israel

4. Cancer Research Center, Pediatric Hemato/oncology Unit; Edmond and Lily Safra Children's Hospital, The Chaim Sheba Medical Center; Ramat Gan Israel

5. Department of Molecular Genetics; Weizmann Institute of Science; Rehovot Israel

6. Diagnostic Imaging Unit; The Chaim Sheba Medical Center; Ramat Gan Israel

7. Center for Human Genome Variation; Duke University School of Medicine; Durham NC USA

8. Danek Gertner Institute of Human Genetics; Sheba Medical Center; Ramat Gan Israel

9. The Sackler School of Medicine; Tel Aviv University; Tel Aviv Israel

10. Institute for Genomic Medicine; Columbia University Medical School, Columbia University Medical Center; New York NY USA

Funder

Israel Science Foundation

Pinchas Borenstein Talpiot Medical Leadership Program

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference22 articles.

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2. Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature;Von der Hagen;Dev Med Child Neurol,2014

3. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly;Srour;Clin Genet,2015

4. Fast and accurate short read alignment with Burrows-Wheeler transform;Li;Bioinformatics,2009

5. A framework for variation discovery and genotyping using next-generation DNA sequencing data;DePristo;Nat Genet,2011

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