Howard Martin - Concepedia

Author

Howard Martin

University of Cambridge ORCID

Also Known As

H Martin, H. Martin, Howard Martin, Martin H. Schaefer (105581), Martin, H

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

University of Cambridge Addenbrooke's Hospital Cambridge University Hospitals NHS Foundation Trust MRC Biostatistics Unit Wellcome Sanger Institute

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	9	9	968
2	Public Health	2	2	57
3	Engineering	1	1	25
4	Health Sciences	1	1	90
5	Cell Biology	1	1	25

Howard Martin

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability Charles Shaw‐Smith, Alan Pittman, Lionel Willatt, Nature Genetics ChromatinDevelopmental BiologyCytogeneticsGenetic DisorderGenetics	2006	371
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, The Journal of Clinical Endocrinology & Metabolism	2000	315
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James J. Cox, John Barber, The American Journal of Human Genetics Molecular CharacterizationGene Deletion DataGenetic DisorderGeneticsPathogenesis	2005	295
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders Kate Downes, Karyn Mégy, Daniel Duarte, Blood	2019	210
Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1 Allan J. Richards, Annie McNinch, Howard Martin, Human Mutation	2010	140
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ Adeline K. Nicholas, Eva Serra, Hakan Cangül, The Journal of Clinical Endocrinology & Metabolism	2016	107
Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis Andrea Luchetti, Diana Walsh, Fay Rodger, International Journal of Endocrinology Somatic MutationSomatic VariantSomatic MutationsGliomaTumor Heterogeneity	2015	90
Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Farah Zahir, Helen V. Firth, Ágnes Baross, Journal of Medical Genetics	2007	86
Residual Activity of Mutant Androgen Receptors Explains Wolffian Duct Development in the Complete Androgen Insensitivity Syndrome Sabine E Hannema, Ian Scott, John Hodapp, The Journal of Clinical Endocrinology & Metabolism Residual ActivityInfertilityWd DevelopmentSignal TransductionDevelopmental Biology	2004	84
ISOLATION AND GENETIC ANALYSIS OF MUTANT STRAINS OF <i>CHLAMYDOMONAS REINHARDI</i> DEFECTIVE IN GAMETIC DIFFERENTIATION Ursula Goodenough, Carol Hwang, Howard Martin Genetics	1976	73

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