Publications by authors named "Yuval Yogev"

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Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.
Chanan M Argov, Ariel Shneyour, Juman Jubran, Eric Sabag, Avigdor Mansbach, Yuval Yogev

Mol Syst Biol· November 2024

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Developmental dysplasia of the hip caused by homozygous pathogenic variant affecting downstream BMP pathway.
Maya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, Marina Eskin-Schwartz, Noam Hadar

J Med Genet· September 2024

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Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Marina Michelson, Keren Yosovich, Sarit Bahar, Yuval Yogev, Ohad S Birk

Clin Genet· June 2024

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mutation causes sex-dependent neurologic disorder.
Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Zamir Shorer, Rotem Kadir, Daniel Halperin, Yuval Yogev

J Med Genet· May 2024

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Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Noam Hadar, Omri Porgador, Idan Cohen, Hilla Levi, Vadim Dolgin, Yuval Yogev

Eur J Hum Genet· May 2024

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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Noam Hadar, Vadim Dolgin, Katya Oustinov, Yuval Yogev, Tomer Poleg

Hum Genet· May 2024

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A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
Yuval Yogev, Moshe Schaffer, Mark Shlapobersky, Matan M Jean, Ohad Wormser

J Med Virol· February 2024

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mutation causes human otosclerosis and a similar phenotype in mice.
Max Drabkin, Matan M Jean, Yael Noy, Daniel Halperin, Yuval Yogev

J Med Genet· January 2024

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De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Maya Gombosh, Yuval Yogev, Noam Hadar, Regina Proskorovski-Ohayon, Sarit Aharoni

Clin Genet· November 2023

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X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.
Noam Hadar, Ruth Schreiber, Marina Eskin-Schwartz, Eyal Kristal, George Shubinsky, Yuval Yogev

Eur J Hum Genet· October 2023

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Predicting molecular mechanisms of hereditary diseases by using their tissue-selective manifestation.
Eyal Simonovsky, Moran Sharon, Maya Ziv, Omry Mauer, Idan Hekselman, Yuval Yogev

Mol Syst Biol· August 2023

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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A Tangeman, Yuval Yogev

NPJ Genom Med· August 2023

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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin

J Inherit Metab Dis· July 2023

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Limb girdle muscular disease caused by mutation and statin myopathy treatable with mevalonolactone.
Yuval Yogev, Zamir Shorer, Arie Koifman, Ohad Wormser, Max Drabkin

Proc Natl Acad Sci U S A· February 2023

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PSMC1 variant causes a novel neurological syndrome.
Sarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser

Clin Genet· October 2022

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A novel leaky splice variant in centromere protein J (CENPJ)-associated Seckel syndrome.
Navneesh Yadav, Laxmi Kirola, Thenral S Geetha, Kirti Mittal, Jayarama Kadandale, Yuval Yogev

Ann Hum Genet· September 2022

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Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.
Yuval Yogev, Jacob Bistritzer, Yair Sadaka, Analia Michaelovsky, Yuval Cavari

Mol Diagn Ther· September 2022

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A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Yuval Yogev

Clin Genet· August 2022

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Fractional exhaled Nitric Oxide (FeNO) level as a predictor of COVID-19 disease severity.
Yotam Lior, Noga Yatzkan, Ido Brami, Yuval Yogev, Reut Riff

Nitric Oxide· July 2022

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Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Daniel Halperin, Aviad Sapir, Ohad Wormser, Max Drabkin, Yuval Yogev

Neurogenetics· October 2020

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A humoral solution: Autologous blood products and tissue repair.
Yuval Yogev

Cell Immunol· October 2020

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Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Daniel Halperin, Max Drabkin, Ohad Wormser, Yuval Yogev, Vadim Dolgin

Am J Med Genet A· June 2020

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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase.
Max Drabkin, Yuval Yogev, Lior Zeller, Raz Zarivach, Ran Zalk

J Clin Invest· December 2019

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DEGS1 variant causes neurological disorder.
Vadim Dolgin, Rachel Straussberg, Ruijuan Xu, Izolda Mileva, Yuval Yogev

Eur J Hum Genet· November 2019

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A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.
Daniel Halperin, Vadim Dolgin, Michael Geylis, Max Drabkin, Yuval Yogev

Ann Hum Genet· September 2019

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