Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Drabkin, Max, Yogev, Yuval, Zeller, Lior, Zarivach, Raz, Zalk, Ran, Halperin, Daniel, Wormser, Ohad, Gurevich, Evgenia, Landau, Daniel, Kadir, Rotem, Perez, Yonatan, Birk, Ohad S
Published in The Journal of clinical investigation (01.12.2019)
Published in The Journal of clinical investigation (01.12.2019)
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Journal Article
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma
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
Published in Npj genomic medicine (14.08.2023)
Published in Npj genomic medicine (14.08.2023)
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Journal Article
Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone
Yogev, Yuval, Shorer, Zamir, Koifman, Arie, Wormser, Ohad, Drabkin, Max, Halperin, Daniel, Dolgin, Vadim, Proskorovski-Ohayon, Regina, Hadar, Noam, Davidov, Geula, Nudelman, Hila, Zarivach, Raz, Shelef, Ilan, Perez, Yonatan, Birk, Ohad S
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (14.02.2023)
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Journal Article
ZNF142 mutation causes sex-dependent neurologic disorder
Proskorovski-Ohayon, Regina, Eskin-Schwartz, Marina, Shorer, Zamir, Kadir, Rotem, Halperin, Daniel, Drabkin, Max, Yogev, Yuval, Aharoni, Sarit, Hadar, Noam, Cohen, Hagit, Eremenko, Ekaterina, Perez, Yonatan, Birk, Ohad S
Published in Journal of medical genetics (01.06.2024)
Published in Journal of medical genetics (01.06.2024)
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Journal Article
A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma
Yogev, Yuval, Schaffer, Moshe, Shlapobersky, Mark, Jean, Matan M., Wormser, Ohad, Drabkin, Max, Halperin, Daniel, Kassem, Riad, Livoff, Alejandro, Tsitrina, Alexandra A., Asna, Noam, Birk, Ohad S.
Published in Journal of medical virology (01.02.2024)
Published in Journal of medical virology (01.02.2024)
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Journal Article
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
Drabkin, Max, Jean, Matan M, Noy, Yael, Halperin, Daniel, Yogev, Yuval, Wormser, Ohad, Proskorovski-Ohayon, Regina, Dolgin, Vadim, Levaot, Noam, Brumfeld, Vlad, Ovadia, Shira, Kishner, Mor, Kazenell, Udi, Avraham, Karen B, Shelef, Ilan, Birk, Ohad S
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Journal Article
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19
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.
Published in Human genetics (01.05.2024)
Published in Human genetics (01.05.2024)
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Journal Article
SEC31A mutation affects ER homeostasis, causing a neurological syndrome
Halperin, Daniel, Kadir, Rotem, Perez, Yonatan, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Berman, Erez M, Eremenko, Ekaterina, Rotblat, Barak, Shorer, Zamir, Gradstein, Libe, Shelef, Ilan, Birk, Ruth, Abdu, Uri, Flusser, Hagit, Birk, Ohad S
Published in Journal of medical genetics (01.03.2019)
Published in Journal of medical genetics (01.03.2019)
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Journal Article
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome
Wormser, Ohad, Gradstein, Libe, Yogev, Yuval, Perez, Yonatan, Kadir, Rotem, Goliand, Inna, Sadka, Yair, El Riati, Saad, Flusser, Hagit, Nachmias, Dikla, Birk, Ruth, Iraqi, Muhamad, Kadar, Einat, Gat, Roni, Drabkin, Max, Halperin, Daniel, Horev, Amir, Sivan, Sara, Abdu, Uri, Elia, Natalie, Birk, Ohad S
Published in European journal of human genetics : EJHG (01.06.2019)
Published in European journal of human genetics : EJHG (01.06.2019)
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Journal Article
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13‐q21.3
Halperin, Daniel, Agam, Nadav, Hallak, Maher, Feinstein, Miora, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Shavit, Eitan, Gradstein, Libe, Shelef, Ilan, Mijalovsky, Aanalia, Flusser, Hagit, Birk, Ohad S.
Published in Clinical genetics (01.08.2022)
Published in Clinical genetics (01.08.2022)
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Journal Article
Phenotypic variability and mutation hotspot in COX15‐related Leigh syndrome
Halperin, Daniel, Drabkin, Max, Wormser, Ohad, Yogev, Yuval, Dolgin, Vadim, Shorer, Zamir, Gradstein, Libe, Shelef, Ilan, Flusser, Hagit, Birk, Ohad S.
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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Journal Article
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I
Halperin, Daniel, Dolgin, Vadim, Geylis, Michael, Drabkin, Max, Yogev, Yuval, Wormser, Ohad, Schreiber, Ruth, Shalev, Hanna, Landau, Daniel, Birk, Ohad S.
Published in Annals of human genetics (01.09.2019)
Published in Annals of human genetics (01.09.2019)
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Journal Article
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation
Yogev, Yuval, Perez, Yonatan, Noyman, Iris, Madegem, Anwar Abu, Flusser, Hagit, Shorer, Zamir, Cohen, Eugene, Kachko, Leonid, Michaelovsky, Analia, Birk, Ruth, Koifman, Arie, Drabkin, Max, Wormser, Ohad, Halperin, Daniel, Kadir, Rotem, Birk, Ohad S
Published in European journal of human genetics : EJHG (01.08.2017)
Published in European journal of human genetics : EJHG (01.08.2017)
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Journal Article
Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy
Yogev, Yuval, Bistritzer, Jacob, Sadaka, Yair, Michaelovsky, Analia, Cavari, Yuval, Feinstein, Yael, Abu-Madegem, Munir, Fellig, Yakov, Wormser, Ohad, Drabkin, Max, Halperin, Daniel, Birk, Ohad S.
Published in Molecular diagnosis & therapy (01.09.2022)
Published in Molecular diagnosis & therapy (01.09.2022)
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Journal Article
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
Halperin, Daniel, Sapir, Aviad, Wormser, Ohad, Drabkin, Max, Yogev, Yuval, Dolgin, Vadim, Flusser, Hagit, Birk, Ohad S.
Published in Neurogenetics (01.10.2020)
Published in Neurogenetics (01.10.2020)
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Journal Article
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
Wormser, Ohad, Gradstein, Libe, Kadar, Einat, Yogev, Yuval, Perez, Yonatan, Mashkit, Elena, Elbedour, Khalil, Drabkin, Max, Markus, Barak, Kadir, Rotem, Halperin, Daniel, Khalaila, Soltan, Levy, Jaime, Lifshitz, Tova, Manor, Esther, Birk, Ohad S.
Published in American journal of medical genetics. Part A (01.12.2018)
Published in American journal of medical genetics. Part A (01.12.2018)
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Journal Article
Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel
Drabkin, Max, Zilberberg, Noam, Menahem, Sasson, Mulla, Wesam, Halperin, Daniel, Yogev, Yuval, Wormser, Ohad, Perez, Yonatan, Kadir, Rotem, Etzion, Yoram, Katz, Amos, Birk, Ohad S
Published in Circulation. Genomic and precision medicine (01.11.2018)
Published in Circulation. Genomic and precision medicine (01.11.2018)
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Journal Article
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome
Halperin, Daniel, Drabkin, Max, Wormser, Ohad, Yogev, Yuval, Dolgin, Vadim, Shorer, Zamir, Gradstein, Libe, Shelef, Ilan, Flusser, Hagit, Birk, Ohad S
Published in American journal of medical genetics. Part A (01.06.2020)
Published in American journal of medical genetics. Part A (01.06.2020)
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