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

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Title: Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
Authors: Poleg T; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Proskorovski-Ohayon R; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Dolgin V; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Hadar N; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Safran A; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Agam N; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Jean MM; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Freund O; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Gradstein L; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Shelef I; Department of Radiology, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel., Sadaka Y; Child Development Center, Ministry of Health, and Azrieli National Centre for Autism, Ben-Gurion University, Beer-Sheva, Israel., Birk OS; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel.
Source: Clinical genetics [Clin Genet] 2025 Mar; Vol. 107 (3), pp. 348-353. Date of Electronic Publication: 2024 Nov 25.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
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  Data: <searchLink fieldCode="AU" term="%22Poleg+T%22">Poleg T</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Proskorovski-Ohayon+R%22">Proskorovski-Ohayon R</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Dolgin+V%22">Dolgin V</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Hadar+N%22">Hadar N</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Safran+A%22">Safran A</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Agam+N%22">Agam N</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Jean+MM%22">Jean MM</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Freund+O%22">Freund O</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Gradstein+L%22">Gradstein L</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Shelef+I%22">Shelef I</searchLink>; Department of Radiology, Soroka Medical Center and Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Sadaka+Y%22">Sadaka Y</searchLink>; Child Development Center, Ministry of Health, and Azrieli National Centre for Autism, Ben-Gurion University, Beer-Sheva, Israel.<br /><searchLink fieldCode="AU" term="%22Birk+OS%22">Birk OS</searchLink>; Faculty of Health Sciences, Ben-Gurion University, Beer-Sheva, Israel.; Genetics Institute, Soroka Medical Center, Beer-Sheva, Israel.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Mar; Vol. 107 (3), pp. 348-353. <i>Date of Electronic Publication: </i>2024 Nov 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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