Concepedia

Andrew H. Crosby

AH

Statistics

Publications

109

Citations

11K

H-Index

45

Active since

1973

Affiliations

St George's, University of London(Current)

University of Exeter

St George's Hospital

Royal Devon & Exeter NHS Foundation Trust

University College London

Andrew H. Crosby is an author at St George's, University of London specializing in life sciences, genetics, and molecular genetics.

ORCID

Publications per year

1973–2023

109

Publications

109

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Marco Tartaglia, Ernest L. Mehler, Rosalie Goldberg et al. · Nature Genetics · 2001 · 1.7K citations

, , +11

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease)

Godfrina McKoy, Nikos Protonotarios, Andrew H. Crosby et al. · The Lancet · 2000 · 1.1K citations

, , +15

PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

Marco Tartaglia, Kamini Kalidas, Adam Shaw et al. · The American Journal of Human Genetics · 2002 · 797 citations · Full text

, , +9

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

Michael A. Simpson, Christos Proukakis, David A. Priestman et al. · Nature Genetics · 2004 · 385 citations

, , +16

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

Christian Windpassinger, Michaela Auer‐Grumbach, Joy Irobi et al. · Nature Genetics · 2004 · 380 citations · Full text

, , +13

1–5 of 109