Uppala Radhakrishna

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

Jean-Louis Blouin, Beth A. Dombroski, Swapan K. Nath et al. · Nature Genetics · 1998 · 535 citations

Psychiatry, Genetic Disorder, Genetics +5

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Jérôme Lamartine, Guilherme Munhoz Essenfelder, Zoha Kibar et al. · Nature Genetics · 2000 · 287 citations

Genetic Disorder, Genetics, Pathology +3

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Anu Bashamboo, Bruno Ferraz‐de‐Souza, Diana Lourenço et al. · The American Journal of Human Genetics · 2010 · 244 citations · Full text

Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Hamish S. Scott, Jun Kudoh, Marie Wattenhofer‐Donzé et al. · Nature Genetics · 2001 · 234 citations · Full text

Developmental Biology, Transmembrane Protease, Pediatric Otolaryngology +11

The Phenotypic Spectrum of GLI3 Morphopathies Includes Autosomal Dominant Preaxial Polydactyly Type-IV and Postaxial Polydactyly Type-A/B; No Phenotype Prediction from the Position of GLI3 Mutations

Uppala Radhakrishna, Dorothea Bornholdt, Hamish S. Scott et al. · The American Journal of Human Genetics · 1999 · 185 citations · Full text

Biology, Allelic Variant, Developmental Biology +11