Publications by authors named "Chofit Chai Gadot"

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c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.
Sivan Reytan Miron, Alina Kurolap, Bassam Abu-Libdeh, Abdel Salam Abu-Libdeh, Clara Velmans, Chofit Chai Gadot

J Med Genet· June 2025

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Deletion of noncoding exons 1-2 causes Smith-Magenis syndrome.
Uri Hamiel, Alina Kurolap, Chofit Chai Gadot, Adi Mory, Anat Bar Shira

J Genet· May 2025

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Impaired Wnt/Planar Cell Polarity Signaling in Yellow Nail Syndrome.
Alina Kurolap, Chofit Chai Gadot, Orly Eshach Adiv, Tova Hershkovitz, Emily Avitan-Hersh

Ann Intern Med· January 2025

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis. Reply.
Alina Kurolap, Chofit Chai Gadot, Hagit Baris Feldman

N Engl J Med· April 2024

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Complete loss of the atrial natriuretic peptide-converting enzyme Corin and CHAF-LA syndrome: Implications to natriuretic peptide physiology and left atrium health.
Alina Kurolap, Chofit Chai Gadot, David Zahler, Jacob N Ablin, Hagit Baris Feldman

Clin Transl Med· January 2024

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A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescue.
Alina Kurolap, Dalit Barel, Nava Shaul Lotan, Isaiah Wexler, Chofit Chai Gadot

Mol Genet Metab· November 2023

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Corin and Left Atrial Cardiomyopathy, Hypertension, Arrhythmia, and Fibrosis.
Hagit Baris Feldman, Chofit Chai Gadot, David Zahler, Adi Mory, Galit Aviram

N Engl J Med· November 2023

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Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Penina Ponger, Alina Kurolap, Israela Lerer, Judith Dagan, Chofit Chai Gadot

J Mol Neurosci· August 2022

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Extracellular Vesicular Transmission of miR-423-5p from HepG2 Cells Inhibits the Differentiation of Hepatic Stellate Cells.
Michal Safran, Rula Masoud, Maya Sultan, Irena Tachlytski, Chofit Chai Gadot

Cells· May 2022

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