Horia Stanescu - Concepedia

Author

Horia Stanescu

Also Known As

Francesco Lescai, H Stanescu, H. Stanescu, Horia C Stanescu, Horia C. Stanescu, Horia Stanescu, Horia C. Stanescu, Mehmet Tekman, Rik Westland, Stanescu H

Publications

4.7K

Citations

H-Index

Concepts

All Affiliations

University College London National Institutes of Health Great Ormond Street Hospital National Human Genome Research Institute Great Ormond Street Hospital for Children NHS Foundation Trust

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	12	12	1.4K
2	Social Sciences	4	4	449
3	Immunology	3	3	315
4	Molecular Genetics	3	3	549
5	Cell Biology	1	1	55

Horia Stanescu

Publications

4.2K

Citations

H-Index

Page 1

	Year	Citations
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and <i>KCNJ10</i> Mutations Detlef Böckenhauer, Sally Feather, Horia Stanescu, New England Journal of Medicine	2009	568
<i>NT5E</i> Mutations and Arterial Calcifications Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, New England Journal of Medicine	2011	444
Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C Guida Landouré, Anselm A. Zdebik, Tara Martinez, Nature Genetics Genetic DisorderPathogenesisPathologyMolecular GeneticsDisease Gene Identification	2009	332
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, Molecular Psychiatry AdhdPsychiatryPsychotropic MedicationPsychopharmacologyStimulant Medication	2010	291
HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting Shazia Adalat, Adrian S. Woolf, Karen A. Johnstone, Journal of the American Society of Nephrology	2009	272
Mutations in the autoregulatory domain of β‐tubulin 4a cause hereditary dystonia Joshua Hersheson, Niccolò E. Mencacci, Mary B. Davis, Annals of Neurology GeneticsCytoskeletonMolecular GeneticsDisease Gene IdentificationSynaptic Signaling	2012	178
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük, Blood	2010	153
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene <i>WDR1 </i> Ariane Standing, Dessislava Malinova, Ying Hong, The Journal of Experimental Medicine ImmunodeficienciesImmune RegulationImmunologyPathologyInnate Immunity	2016	141
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia Niccolò E. Mencacci, Ignacio Rubio‐Agusti, Anselm A. Zdebik, The American Journal of Human Genetics	2015	139
Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1 Daniel P. Gale, Karen Molyneux, David Wimbury, Journal of the American Society of Nephrology	2017	130

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