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Horia Stanescu

National Human Genome Research Institute · US
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Area of research
Genetics · Nephrology
Research interest
Research interests include Genetics, Genome-wide association study, Allele, Kidney disease, Biology, and Medicine.
h-index
citations
1,179
works
12
NIH funding
primary concept
email

Recent publications

Multiethnic prevalence of the <i>APOL1</i> G1 and G2 variants among the Israeli dialysis population
Clinical Kidney Journal 2024cited by 2position: middledoi
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
Nature Communications 2020cited by 218position: middledoi
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome
Journal of the American Society of Nephrology 2019cited by 62position: middledoi
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure
Journal of the American Society of Nephrology 2018cited by 92position: middledoi
Galactosylation of IgA1 Is Associated with Common Variation in C1GALT1
Journal of the American Society of Nephrology 2017cited by 136position: middledoi
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2
Journal of the American Society of Nephrology 2017cited by 113position: middledoi
A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling
Journal of the American Society of Nephrology 2017cited by 50position: middledoi
Genetic risk variants for membranous nephropathy: extension of and association with other chronic kidney disease aetiologies
Nephrology Dialysis Transplantation 2016cited by 78position: middledoi
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
The American Journal of Human Genetics 2015cited by 145position: middledoi
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome
New England Journal of Medicine 2014cited by 127position: middledoi
Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations
Nephron Physiology 2013cited by 102position: middledoi
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
The American Journal of Human Genetics 2013cited by 54position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

Robert Kleta · National Human Genome Research Institute3 papers (2013–2017) · 1 papers (2017–2017)Kai‐Uwe Eckardt · Friedrich-Alexander-Universität Erlangen-Nürnberg1 papers (2016–2016)Anna Köttgen · Imperial College London1 papers (2016–2016) · 1 papers (2016–2016)Henry Houlden · University College London Hospitals NHS Foundation Trust1 papers (2013–2013)Florian Kronenberg · RWTH Aachen University1 papers (2016–2016)Robert H. Baloh · Cedars-Sinai Medical Center1 papers (2013–2013)Charlotte J. Sumner · Johns Hopkins University1 papers (2013–2013) · 1 papers (2017–2017)Yong Li · Jinan University1 papers (2016–2016)Nilesh J. Samani · Broad Institute1 papers (2017–2017)Andrew Singleton · University of Birmingham1 papers (2013–2013)Christopher P. Nelson · London School of Hygiene & Tropical Medicine1 papers (2017–2017)Dena Hernández · National Institute on Aging1 papers (2013–2013)Karen Molyneux · University of Leicester1 papers (2017–2017)Stephen H. Powis · Dalian Medical University1 papers (2016–2016)Patricia A. Higgins · University of Leicester1 papers (2017–2017)David R. Cornblath · Johns Hopkins Medicine1 papers (2013–2013)Matthew B. Harms · Utrecht University1 papers (2013–2013)
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