Horia Stanescu

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 580 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>NT5E</i> Mutations and Arterial Calcifications

Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello et al. · New England Journal of Medicine · 2011 · 450 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C

Guida Landouré, Anselm A. Zdebik, Tara Martinez et al. · Nature Genetics · 2009 · 336 citations · Full text

Medicine, Genetics, Molecular Genetics +7

A common variant of the latrophilin 3 gene, LPHN3, confers susceptibility to ADHD and predicts effectiveness of stimulant medication

Mauricio Arcos‐Burgos, Mahim Jain, Maria T. Acosta et al. · Molecular Psychiatry · 2010 · 293 citations · Full text

Medicine, Neuroscience, Psychiatry +16

HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting

Shazia Adalat, Adrian S. Woolf, Karen A. Johnstone et al. · Journal of the American Society of Nephrology · 2009 · 277 citations · Full text

Medicine, Genetics, Molecular Genetics +17