Charles Shaw‐Smith

The DNA sequence of the human X chromosome

Mark T. Ross, Darren Grafham, Alison J. Coffey et al. · Nature · 2005 · 1.2K citations · Full text

Chromatin, Dna, Genetics +7

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, Oliver Brandau et al. · Nature Genetics · 1998 · 754 citations

Host Response, Sh2-domain Encoding Gene, Molecular Virology +8

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, Samarth Bhatt et al. · The American Journal of Human Genetics · 2009 · 513 citations · Full text

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

Charles Shaw‐Smith, Alan Pittman, Lionel Willatt et al. · Nature Genetics · 2006 · 371 citations

Chromatin, Developmental Biology, Cytogenetics +9

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis

Michael N. Weedon, Inês Cebola, Ann‐Marie Patch et al. · Nature Genetics · 2013 · 313 citations

Developmental Biology, Pancreatic Cancer, Genetics +5