Sharayu Jangam - Dept Mol & Human Genet, Baylor Coll Med BCM

Yue Huang,Kristy L. Jay,Alden Yen-Wen Huang,Jijun Wan,Sharayu V. Jangam,Odelia Chorin,Annick Rothschild,Ortal Barel,Milena Mariani,Maria Iascone,Han Xue, Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y. Mah-Som, Stephanie Sacharow, Farrah Rajabi, Carrie Costin, Shinya Yamamoto, Oguz Kanca, Hugo J. Bellen, Jill A. Rosenfeld, Christina G. S. Palmer, Stanley F. Nelson, Michael F. Wangler, Julian A. Martinez-Agosto

GENETICS IN MEDICINEno. 11 (2024)

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Ade novomissense variant inEZH1associated with developmental delay exhibits functional deficits inDrosophila melanogaster

Sharayu Jangam,Lauren C. Briere,Kristy Jay,Jonathan C Andrews,Melissa A. Walker,Lance H. Rodan,Frances A. High,Shinya Yamamoto,David A. Sweetser,Michael Wangler,

medRxiv (Cold Spring Harbor Laboratory) (2023)

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De novoand inherited variants inDDX39Bcause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Kevin T. Booth,Sharayu Jangam,Martin Man Chun Chui,Kayla Treat, Lorenzo Graziani,Alessia Soldano,Kerry White,Celanie K. Christensen,Ty C. Lynnes,Shinya Yamamoto, Mandy HY TSANG,Sally Ann Lynch,Sureni V Mullegama, João A. N. Batista,Daniela Iancu,Shelagh Joss,Christopher Chun Yu Mak, Ava Kwong,Oguz Kanca,Hugo J. Bellen,Erin Conboy,Remo Sanges,Michael F. Wangler,Brian H.Y. Chung,Francesco Vetrini

medRxiv (Cold Spring Harbor Laboratory) (2023)

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A De Novo Missense Variant in EZH1 Associated with Developmental Delay Exhibits Functional Deficits in Drosophila Melanogaster

Sharayu Jangam,Lauren C. Briere,Kristy L. Jay,Jonathan C. Andrews,Melissa A. Walker,Lance H. Rodan,Frances A. High,Shinya Yamamoto,Michael F. Undiagnosed Diseases Network,David A. Sweetser,Michael F. Wangler

GENETICSno. 4 (2023)

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Dicarboxylic Acylcarnitine Biomarkers in Peroxisome Biogenesis Disorders

Michael F. Wangler, Barbara Lesko, Rejwi Dahal,Sharayu Jangam,Pradnya Bhadane, Theodore E. Wilson,Molly McPheron,Marcus J. Miller

Molecular genetics and metabolism（2023）

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De Novo Variants in MRTFB Have Gain-of-function Activity in Drosophila and Are Associated with a Novel Neurodevelopmental Phenotype with Dysmorphic Features

Jonathan C. Andrews,Jung-Wan Mok,Oguz Kanca,Sharayu Jangam,Cynthia Tifft,Ellen F. Macnamara,Bianca E. Russell,Lee-kai Wang,Stanley F. Nelson,Hugo J. Bellen,Shinya Yamamoto,May Christine V. Malicdan,Michael F. Wangler

GENETICS IN MEDICINE（2023）

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De novo and inherited variants in DDX39B cause a Novel Syndrome Characterized by Neurodevelopmental Delay, Short Stature, and Congenital Hypotonia

Kevin T.A. Booth,Sharayu V. Jangam,Martin M.C. Chui,Kayla Treat, Lorenzo Graziani,Alessia Soldano,Kerry White,Celanie K. Christensen,Ty Lynnes,Shinya Yamamoto,Oguz Kanca,Mandy H.Y. Tsang,Sally A. Lynch,Sureni V. Mullegama,Julia Batista,Daniela Iancu, Shelag K. Joss,Christopher C.Y. Mak,Anna Y. Kwong,Hugo J. Bellen, BCM Center for Precision Medicine Models,Erin Conboy,Remo Sanges,Michael F. Wangler,Brian H.Y. Chung,Francesco Vetrini

medrxiv（2023）

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