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Charles Shaw‐Smith | Researchclopedia

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Charles Shaw‐Smith

Royal Devon & Exeter NHS Foundation Trust

97

Works

8,677

Citations

41

h-index

63

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Congenital heart defects research

Affiliations

National Health Service2016–2019

Royal Children's Hospital2019–2019

Centre for Human Genetics2003–2003

The University of Melbourne2019–2019

University of Exeter2011–2018

Top Works

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

Alison J. Coffey,Robert A. Brooksbank,et al.

1998757 citations

Genomics and Rare Diseases

Congenital Diaphragmatic Hernia Studies

Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations

Paweł Stankiewicz,Partha Sen,et al.

2009527 citations

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw‐Smith,Alan Pittman,et al.

2006372 citations

Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology

Charles Shaw‐Smith

2005338 citations

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Michael N. Weedon,Inês Cebola,et al.

2013315 citations

GATA6 haploinsufficiency causes pancreatic agenesis in humans

Hana Lango Allen,Sarah E. Flanagan,et al.

2011303 citations

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt,James J. Cox,et al.

2005296 citations

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

Gurdeep S. Sagoo,Adam S. Butterworth,et al.

2009219 citations

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

David A. Koolen,Andrew J. Sharp,et al.

2008217 citations