Works matching AU Dolgin, Vadim

Results: 12

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.

Published in:

Neurogenetics, 2020, v. 21, n. 4, p. 301, doi. 10.1007/s10048-020-00617-2

By:

Halperin, Daniel;
Sapir, Aviad;
Wormser, Ohad;
Drabkin, Max;
Yogev, Yuval;
Dolgin, Vadim;
Flusser, Hagit;
Birk, Ohad S.

Publication type:

Article

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Published in:

Journal of Inherited Metabolic Disease Reports, 2025, v. 66, n. 1, p. 1, doi. 10.1002/jmd2.12465

By:

Dolgin, Vadim;
Chabosseau, Pauline;
Bistritzer, Jacob;
Noyman, Iris;
Staretz‐Chacham, Orna;
Wormser, Ohad;
Hadar, Noam;
Eskin‐Schwartz, Marina;
Kanengisser‐Pines, Bibi;
Narkis, Ginat;
Abramsky, Ramy;
Shany, Eilon;
Rutter, Guy A.;
Marks, Kyla;
Birk, Ohad S.

Publication type:

Article

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Published in:

NPJ Genomic Medicine, 2025, v. 10, n. 1, p. 1, doi. 10.1038/s41525-025-00481-9

By:

Poleg, Tomer;
Hadar, Noam;
Heimer, Gali;
Dolgin, Vadim;
Aminov, Ilana;
Safran, Amit;
Agam, Nadav;
Jean, Matan M.;
Freund, Ofek;
Kaur, Simran;
Christodoulou, John;
Ben-Zeev, Bruria;
Birk, Ohad S.

Publication type:

Article

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00364-x

By:

Wormser, Ohad;
Perez, Yonatan;
Dolgin, Vadim;
Kamali, Bahman;
Tangeman, Jared A.;
Gradstein, Libe;
Yogev, Yuval;
Hadar, Noam;
Freund, Ofek;
Drabkin, Max;
Halperin, Daniel;
Irron, Inbar;
Grajales-Esquivel, Erika;
Del Rio-Tsonis, Katia;
Birnbaum, Ramon Y.;
Akler, Gidon;
Birk, Ohad S.

Publication type:

Article

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Published in:

NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00364-x

By:

Wormser, Ohad;
Perez, Yonatan;
Dolgin, Vadim;
Kamali, Bahman;
Tangeman, Jared A.;
Gradstein, Libe;
Yogev, Yuval;
Hadar, Noam;
Freund, Ofek;
Drabkin, Max;
Halperin, Daniel;
Irron, Inbar;
Grajales-Esquivel, Erika;
Del Rio-Tsonis, Katia;
Birnbaum, Ramon Y.;
Akler, Gidon;
Birk, Ohad S.

Publication type:

Article

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Published in:

2022

By:

Basmanav, F. Buket;
Cesarato, Nicole;
Kumar, Sheetal;
Borisov, Oleg;
Kokordelis, Pavlos;
Ralser, Damian J.;
Wehner, Maria;
Axt, Daisy;
Xiong, Xing;
Thiele, Holger;
Dolgin, Vadim;
Gossmann, Yasmina;
Fricker, Nadine;
Dewenter, Malin Katharina;
Weller, Karsten;
Suri, Mohnish;
Reichenbach, Herbert;
Oji, Vinzenz;
Addor, Marie-Claude;
Ramirez, Karla

Publication type:

journal article

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.

Published in:

Annals of Human Genetics, 2019, v. 83, n. 5, p. 361, doi. 10.1111/ahg.12317

By:

Halperin, Daniel;
Dolgin, Vadim;
Geylis, Michael;
Drabkin, Max;
Yogev, Yuval;
Wormser, Ohad;
Schreiber, Ruth;
Shalev, Hanna;
Landau, Daniel;
Birk, Ohad S.

Publication type:

Article

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Published in:

Human Genetics, 2024, v. 143, n. 5, p. 695, doi. 10.1007/s00439-024-02671-4

By:

Hadar, Noam;
Dolgin, Vadim;
Oustinov, Katya;
Yogev, Yuval;
Poleg, Tomer;
Safran, Amit;
Freund, Ofek;
Agam, Nadav;
Jean, Matan M.;
Proskorovski-Ohayon, Regina;
Wormser, Ohad;
Drabkin, Max;
Halperin, Daniel;
Eskin-Schwartz, Marina;
Narkis, Ginat;
Sued-Hendrickson, Sufa;
Aminov, Ilana;
Gombosh, Maya;
Aharoni, Sarit;
Birk, Ohad S.

Publication type:

Article

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Published in:

Clinical Genetics, 2025, v. 107, n. 3, p. 348, doi. 10.1111/cge.14653

By:

Poleg, Tomer;
Proskorovski‐Ohayon, Regina;
Dolgin, Vadim;
Hadar, Noam;
Safran, Amit;
Agam, Nadav;
Jean, Matan M.;
Freund, Ofek;
Gradstein, Libe;
Shelef, Ilan;
Sadaka, Yair;
Birk, Ohad S.

Publication type:

Article

CLDN1 Arg81His founder variant causes ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) syndrome in Moroccan Jews.

Published in:

Clinical Genetics, 2024, v. 105, n. 1, p. 44, doi. 10.1111/cge.14432

By:

Eskin‐Schwartz, Marina;
Dolgin, Vadim;
Didkovsky, Elena;
Aminov, Ilana;
Pikovsky, Anna;
Hadar, Noam;
Kristal, Eyal;
Ling, Galina;
Cohen, Idan;
Zilberman, Uri;
Birk, Ohad S.

Publication type:

Article

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Published in:

Clinical Genetics, 2020, v. 98, n. 3, p. 303, doi. 10.1111/cge.13805

By:

David, Odeya;
Eskin‐Schwartz, Marina;
Ling, Galina;
Dolgin, Vadim;
Kristal, Eyal;
Benkowitz, Ela;
Osyntsov, Lidia;
Gradstein, Libe;
Birk, Ohad S.;
Loewenthal, Neta;
Yerushalmi, Baruch

Publication type:

Article

Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1506, doi. 10.1002/ajmg.a.61577

By:

Halperin, Daniel;
Drabkin, Max;
Wormser, Ohad;
Yogev, Yuval;
Dolgin, Vadim;
Shorer, Zamir;
Gradstein, Libe;
Shelef, Ilan;
Flusser, Hagit;
Birk, Ohad S.

Publication type:

Article