T. Prior

Intragenic telSMN Mutations: Frequency, Distribution, Evidence of a Founder Effect, and Modification of the Spinal Muscular Atrophy Phenotype by cenSMN Copy Number

D. Williams Parsons, Patricia McAndrew, ST Iannaccone et al. · The American Journal of Human Genetics · 1998 · 177 citations · Full text

Systems Biology, Somatic Variant, Genetic Disorder +6

Predicting <i>PTEN</i> mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features

Robert Pilarski, Julie Stephens, Ryan Noss et al. · Journal of Medical Genetics · 2011 · 160 citations

Kennedy's disease

A. Amato, T. Prior, R. J. Barohn et al. · Neurology · 1993 · 134 citations

Mutational spectrum in the neurofibromatosis type 2 gene in sporadic and familial schwannomas

D. Bradley Welling, Marco Guida, Frederick Goll et al. · Human Genetics · 1996 · 70 citations

Developmental Anomaly, Neuro-oncology, Somatic Variant +12

Methylation Analysis of the Fragile X Syndrome by PCR

Soma Das, Takeo Kubota, Min‐Ae Song et al. · Genetic Testing · 1997 · 56 citations

Epigenetic Change, Genetics, Dna Methylation +17