Mari‐Wyn Burley

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Marjon van Slegtenhorst, Ronald De Hoogt, Caroline Hermans et al. · Science · 1997 · 1.7K citations

Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

Andrés Ruiz‐Linares, Kaustubh Adhikari, Víctor Acuña-Alonzo et al. · PLoS Genetics · 2014 · 444 citations · Full text

Ethnicity, Latin American Study, Education +22

A Gain-of-Function Mutation in TRPA1 Causes Familial Episodic Pain Syndrome

Bárbara Kremeyer, Francisco Lopera, James J. Cox et al. · Neuron · 2010 · 431 citations · Full text

Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.

Lesley J. Bruce, Diane L. Cope, Graham K. Jones et al. · Journal of Clinical Investigation · 1997 · 360 citations · Full text

Urology, Mutation Arg589, Renal Function +15

Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13

Sue Povey, Mari‐Wyn Burley, Frances Benham et al. · Annals of Human Genetics · 1994 · 266 citations