Corneliu Bodea
Brigham and Women's Hospital
3 Papers
6 Citations
Corneliu Bodea is an academic researcher from Brigham and Women's Hospital. The author has contributed to research in topics: Sensorineural hearing loss & Genome. The author has an hindex of 2, co-authored 3 publications. Previous affiliations of Corneliu Bodea include Broad Institute.
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Papers
PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants
Corneliu Bodea,Corneliu Bodea,Adele A. Mitchell,Alex Bloemendal,Aaron G. Day-Williams,Heiko Runz,Shamil R. Sunyaev,Shamil R. Sunyaev,Shamil R. Sunyaev +8 more
TL;DR: The computational framework PINES is introduced, which predicts the functional impact of noncoding variants by integrating epigenetic annotations in a phenotype-dependent manner and enables analyses to be customized towards genomic annotations from cell types of the highest relevance given the phenotype of interest.
Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
Jodie Ouahed,Judith R. Kelsen,Waldo A. Spessott,Kameron Kooshesh,Maria L. Sanmillan,Noor Dawany,Kathleen E. Sullivan,Kathryn E. Hamilton,Voytek Slowik,Sergey Nejentsev,Sergey Nejentsev,João Farela Neves,Helena Flores,Wendy K. Chung,Ashley Wilson,Kwame Anyane-Yeboa,Karen Wou,Preti Jain,Michael Field,Sophia Tollefson,Maiah H. Dent,Dalin Li,Takeo Naito,Dermot P.B. McGovern,Andrew C Kwong,Andrew C Kwong,Andrew C Kwong,Faith Taliaferro,Faith Taliaferro,Jose Ordovas-Montanes,Bruce H. Horwitz,Daniel Kotlarz,Christoph Klein,Jonathan Evans,Jill Dorsey,Neil Warner,Abdul Elkadri,Aleixo M. Muise,Jeff Goldsmith,Benjamin J. Thompson,Karin R. Engelhardt,Andrew J. Cant,Andrew J. Cant,Sophie Hambleton,Sophie Hambleton,Andrew Barclay,Agnes Toth-Petroczy,Agnes Toth-Petroczy,Dana Vuzman,Nikkola Carmichael,Corneliu Bodea,Christopher A. Cassa,Marcella Devoto,Richard L. Maas,Edward M. Behrens,Claudio G. Giraudo,Scott B. Snapper,Scott B. Snapper +57 more
TL;DR: In this paper, the authors identified damaging heterozygous or biallelic variants in the Syntaxin-Binding Protein 3 gene [STXBP3], a protein known to regulate intracellular vesicular trafficking in the syntaxin-binding protein family of molecules, but not associated with either VEOIBD or sensorineural hearing loss.
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25 mutations in stxbp3 contribute to very early onset of ibd, immunodeficiency and hearing loss
Judith R. Kelsen,Jodie Ouahed,Waldo A. Spessott,Kameron Kooshesh,Maria L. Sanmillan,Noor Dawany,Kathleen E. Sullivan,Kathryn E. Hamilton,Voytek Slowik,Sergey Nejentsev,João Farela Neves,Helena Flores,Wendy K. Chung,Ashley Wilson,Kwame Anyane Yeboa,Karen Wou,Preti Jain,Sophia Tollefson,Jonathan P. Evans,Neil Warner,Alexio M. Muise,Jeff Goldsmith,Agnes Toth-Petroczy,Dana Vuzman,Nikkola Carmichael,Corneliu Bodea,Christopher A. Cassa,Marcella Devoto,Richard L. Maas,Edward M. Behrens,Scott B. Snapper,Claudio G. Giraudo +31 more
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