Pim Suwannarat

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Arkadiusz Piotrowski, Jing Xie, Ying F Liu et al. · Nature Genetics · 2013 · 315 citations

Developmental Anomaly, Rare Diseases, Somatic Variant +12

A 3-year randomized therapeutic trial of nitisinone in alkaptonuria

Wendy J. Introne, Monique B. Perry, James Troendle et al. · Molecular Genetics and Metabolism · 2011 · 201 citations · Full text

Medicine, Pharmacotherapy, Metronomic Therapy +1

Use of nitisinone in patients with alkaptonuria

Pim Suwannarat, Kevin O’Brien, Monique B. Perry et al. · Metabolism · 2005 · 161 citations · Full text

Medicine, Urological Research, Pharmacotherapy

Mouse screen reveals multiple new genes underlying mouse and human hearing loss

Neil J. Ingham, Selina Pearson, Valerie E. Vancollie et al. · PLoS Biology · 2019 · 117 citations · Full text

Childhood Deafness, Genetics, Human Hearing Loss +21

The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes

Cynthia J. Curry, Jill A. Rosenfeld, Erica T. Grant et al. · American Journal of Medical Genetics Part A · 2013 · 104 citations · Full text

Brain Development, Genetics, Duplication 17P13.3 +19