Concepedia

Horia Stanescu

HS

40

Publications

4.2K

Citations

30

H-Index

2009

Active since

Affiliations

University College London(Current)

National Institutes of Health

Great Ormond Street Hospital

National Human Genome Research Institute

Great Ormond Street Hospital for Children NHS Foundation Trust

Horia Stanescu is an author at University College London specializing in medicine, pathology, and genetics.

ORCID

Top concepts

Publications per year

2009–2024

40

Publications

40

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

Detlef Böckenhauer, Sally Feather, Horia Stanescu et al. · New England Journal of Medicine · 2009 · 568 citations · Full text

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

Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello et al. · New England Journal of Medicine · 2011 · 444 citations · Full text

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

Guida Landouré, Anselm A. Zdebik, Tara Martinez et al. · Nature Genetics · 2009 · 332 citations · Full text

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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 · 291 citations

, , +10

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 · 272 citations · Full text

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