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The genetic basis of DOORS syndrome: an exome-sequencing study

2013227 citationsJournal Articlehybrid Open Access

Authors

Philippe M. Campeau · Baylor College of Medicine

Dalia Kasperavičiūtė · University College London

James T. Lu · Baylor College of Medicine

Lindsay C. Burrage · Baylor College of Medicine

Choel Kim · Baylor College of Medicine

Mutsuki Hori · Toyohashi Municipal Hospital

Berkley R. Powell

Abstract

US National Institutes of Health, the CIHR (Canada), the NIHR (UK), the Wellcome Trust, the Henry Smith Charity, and Action Medical Research.

Topics & Keywords

Genomics and Rare Diseases Genetics and Neurodevelopmental Disorders Genetic and Kidney Cyst Diseases

Publication Details

Published in: The Lancet Neurology

Volume 13, Issue 1, pp. 44-58

DOI: 10.1016/s1474-4422(13)70265-5

Field-Weighted Citation Impact: 10.67

The genetic basis of DOORS syndrome: an exome-sequencing study | Researchclopedia

· Children's Hospital Central California

Fiona Stewart · University of Ulster

Têmis Maria Félix

Jenneke van den Ende · Antwerp University Hospital

Marzena Wiśniewska · Poznan University of Medical Sciences

Hülya Kayserili · Istanbul University

Patrick Rump · University of Groningen

Sheela Nampoothiri · Amrita Institute of Medical Sciences and Research Centre

Salim Aftimos · Auckland City Hospital

Antje Mey · Klinikum Braunschweig

Lal D V Nair · Saveetha University

Michael L. Begleiter · Children's Mercy Hospital

Isabelle De Bie · Montreal Children's Hospital

Girish Meenakshi · NKP Salve Institute of Medical Sciences and Lata Mangeshkar Hospital

Mitzi L. Murray · University of Washington Medical Center

Gabriela M. Repetto · Clínica Alemana

Mahin Golabi · University of California, San Francisco

Edward Blair · Churchill Hospital

Alison Male · Great Ormond Street Hospital for Children NHS Foundation Trust

Fabienne Giuliano · Centre Hospitalier Universitaire de Nice

Ariana Kariminejad

William G. Newman · University of Manchester

Sanjeev S. Bhaskar · St Mary's Hospital

Jonathan E. Dickerson · St. Mary's Hospital

Bronwyn Kerr · St Mary's Hospital

Siddharth Banka · Manchester Academic Health Science Centre

Jacques C. Giltay · University Medical Center Utrecht

Dagmar Wieczorek · Essen University Hospital

Anna Tostevin · University College London

Joanna Wiszniewska · Baylor College of Medicine

Sau Wai Cheung · Baylor College of Medicine

Raoul C. M. Hennekam · University of Amsterdam

Richard A. Gibbs · Baylor College of Medicine

Brendan Lee · Howard Hughes Medical Institute

Sanjay M. Sisodiya · University College London