Howard Martin
MRC Cognition and Brain Sciences Unit(GB)
Publications by Year
Research Areas
Connective tissue disorders research, Sexual Differentiation and Disorders, Genomics and Rare Diseases, Child Abuse and Related Trauma, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Most-Cited Works
- → Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability(2006)372 cited
- → Phenotypic Features, Androgen Receptor Binding, and Mutational Analysis in 278 Clinical Cases Reported as Androgen Insensitivity Syndrome1(2000)315 cited
- → 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome(2005)296 cited
- → Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders(2019)214 cited
- → Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1(2010)142 cited
- → Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ(2016)110 cited
- → Profiling of Somatic Mutations in Phaeochromocytoma and Paraganglioma by Targeted Next Generation Sequencing Analysis(2015)90 cited
- → Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children(2007)88 cited
- → Residual Activity of Mutant Androgen Receptors Explains Wolffian Duct Development in the Complete Androgen Insensitivity Syndrome(2004)84 cited
- → ISOLATION AND GENETIC ANALYSIS OF MUTANT STRAINS OF CHLAMYDOMONAS REINHARDI DEFECTIVE IN GAMETIC DIFFERENTIATION(1976)73 cited