Concepedia

Howard Martin

HM

20

Publications

2.1K

Citations

18

H-Index

1976

Active since

Affiliations

University of Cambridge(Current)

Addenbrooke's Hospital

Cambridge University Hospitals NHS Foundation Trust

MRC Biostatistics Unit

Wellcome Sanger Institute

Howard Martin is an author at University of Cambridge specializing in medicine, genetics, and molecular diagnostics.

ORCID

Top concepts

Publications per year

1976–2021

20

Publications

20

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

, , +9

Phenotypic Features, Androgen Receptor Binding, and Mutational Analysis in 278 Clinical Cases Reported as Androgen Insensitivity Syndrome<sup>1</sup>

S. Faisal Ahmed, Anna Wai-Fun Cheng, L. Dovey et al. · The Journal of Clinical Endocrinology & Metabolism · 2000 · 315 citations · Full text

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

Lionel Willatt, James J. Cox, John Barber et al. · The American Journal of Human Genetics · 2005 · 295 citations · Full text

, , +10

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders

Kate Downes, Karyn Mégy, Daniel Duarte et al. · Blood · 2019 · 210 citations · Full text

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Allan J. Richards, Annie McNinch, Howard Martin et al. · Human Mutation · 2010 · 140 citations · Full text

Rows per page

1–5 of 20