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M. Drabkin · SciRah

Researcher profile · Semantic Scholar

M. Drabkin

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M. Drabkin — researcher profile on SciRah

h-index: 10
Works: 21
Citations: 359

Most-cited papers

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
Y. Yogev, Z. Shorer, A. Koifman, O. Wormser +11 more
2023Proceedings of the National Academy of Sciences of the United States of America56 citations Open access
Semantic Scholar
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
O. Wormser, L. Gradstein, Y. Yogev, Y. Perez +17 more
2019European Journal of Human Genetics46 citations Open access
Semantic Scholar
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
D. Halperin, R. Kadir, Y. Perez, M. Drabkin +12 more
2018Journal of Medical Genetics44 citations
Semantic Scholar
Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
M. Drabkin, Y. Yogev, L. Zeller, R. Zarivach +8 more
2019Journal of Clinical Investigation43 citations Open access
Semantic Scholar
CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice
D. Halperin, A. Stavsky, R. Kadir, M. Drabkin +13 more
2021Nature Communications31 citations Open access
Semantic Scholar
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (&agr;) Subunit of the Cardiac Kv4.2 Potassium Channel
M. Drabkin, N. Zilberberg, S. Menahem, Wesam Mulla +8 more
2018Circulation Genomic and Precision Medicine30 citations Open access
Semantic Scholar
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred
M. Drabkin, O. Birk, R. Birk
2018BMC Medical Genetics27 citations Open access
Semantic Scholar
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
Y. Yogev, Y. Perez, I. Noyman, Anwar Abu Madegem +12 more
2017European Journal of Human Genetics20 citations Open access
Semantic Scholar
Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome
D. Halperin, M. Drabkin, O. Wormser, Y. Yogev +6 more
2020American Journal of Medical Genetics. Part A13 citations
Semantic Scholar
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
N. Hadar, V. Dolgin, Katya Oustinov, Y. Yogev +16 more
2024Human Genetics10 citations
Semantic Scholar
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation
Amit Safran, R. Proskorovski-Ohayon, M. Eskin-Schwartz, Y. Yogev +10 more
2023Journal of Inherited Metabolic Disease8 citations
Semantic Scholar
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
M. Drabkin, Matan M. Jean, Yael Noy, D. Halperin +12 more
2023Journal of Medical Genetics6 citations Open access
Semantic Scholar
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
D. Halperin, V. Dolgin, Michael Geylis, M. Drabkin +6 more
2019Annals of Human Genetics5 citations
Semantic Scholar
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
O. Wormser, L. Gradstein, Einat Kadar, Y. Yogev +12 more
2018American Journal of Medical Genetics. Part A5 citations
Semantic Scholar
ZNF142 mutation causes sex-dependent neurologic disorder
R. Proskorovski-Ohayon, M. Eskin-Schwartz, Z. Shorer, R. Kadir +9 more
2024Journal of Medical Genetics4 citations
Semantic Scholar
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
D. Halperin, Aviad Sapir, O. Wormser, M. Drabkin +4 more
2020Neurogenetics3 citations
Semantic Scholar
Rational design of synthetic proteins using a genome-scale CRISPR screen
W. H. Burrell, S. Mueller, Zharko Daniloski, P. Doyle +11 more
2026bioRxiv2 citations
Semantic Scholar
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma
Y. Yogev, Moshe Schaffer, M. Shlapobersky, Matan M. Jean +8 more
2024Journal of Medical Virology2 citations
Semantic Scholar
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
Y. Yogev, Jacob Bistritzer, Y. Sadaka, Analia Michaelovsky +8 more
2022Molecular Diagnosis & Therapy2 citations
Semantic Scholar
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
O. Wormser, Y. Perez, V. Dolgin, Bahman Kamali +13 more
2023npj Genomic Medicine1 citations Open access
Semantic Scholar
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
D. Halperin, Nadav Agam, M. Hallak, Miora Feinstein +9 more
2022Clinical Genetics1 citations Open access
Semantic Scholar

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