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

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论文共 18 篇作者统计合作学者相似作者

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De Novo Variants in RYBP Are Associated with a Severe Neurodevelopmental Disorder and Congenital Anomalies

Monika Weisz-Hubshman,Lindsay C. Burrage,Sharayu V. Jangam,Jill A. Rosenfeld,Sandra von Hardenberg, Anke Bergmann, Manuela Friederike Richter,Malgorzata Rydzanicz,Rafal Ploski, Agnieszka Stembalska, Wendy K. Chung,Rebecca R. Hernan, Foong Y. Lim,Theresa Brunet, Steffen Syrbe, Boris Keren,Solveig Heide,David R. Murdock,Hongzheng Dai,Fan Xia

Genetics in medicine official journal of the American College of Medical Geneticspp.101369-101369, (2025)

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Resolution of SLC6A1 Variable Expressivity in a Multi-Generational Family Using Deep Clinical Phenotyping and Drosophila Models

Kristy L Jay, Nikhita Gogate, Kim Ezell,Jonathan C Andrews,Sharayu V Jangam, Paige I Hall,Hongling Pan, Kelvin Pham,Ryan German, Vanessa Gomez, Emily Jellinek-Russo,Eric Storch, Brain Gene Registry Consortium, Undiagnosed Diseases Network,Shinya Yamamoto,Oguz Kanca,Hugo J Bellen,Herman Dierick,Joy D Cogan,John A Phillips,Rizwan Hamid,Thomas Cassini,Lynette Rives,Jennifer E Posey,Michael F Wangler

medRxiv the preprint server for health sciences (2024)

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P588: De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome Characterized by Hypotonia, Epilepsy, and Short Stature

Kevin Booth,Sharayu Jangam,Martin Man Chun Chui,Kayla Treat, Lorenzo Graziani,Alessia Soldano,Kerry White,Celanie Christensen,Ty Lynnes,Shinya Yamamoto,Oguz Kanca, Mandy Tsang,Sally Lynch,Sureni Mullegama,Julia Baptista,Daniela Iancu, Shelag Joss,Christopher CY Mak, Anna Kwong,Hugo Bellen

Genetics in Medicine Open (2024): 101494

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Genetic Analysis of the X-linked Adrenoleukodystrophy ABCD1 Gene in Drosophila Uncovers a Role in Peroxisomal Dynamics

Joshua Manor,Sharayu V Jangam,Hyung-Lok Chung,Pranjali Bhagwat,Jonathan Andrews, Hillary Chester,Shu Kondo, Saurabh Srivastav,Juan Botas,Ann B Moser, Suzette M Huguenin,Michael F Wangler

bioRxiv the preprint server for biology (2024)

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Distinguishing PEX Gene Variant Severity for Mild, Severe, and Atypical Peroxisome Biogenesis Disorders in Drosophila

Vanessa A Gomez,Oguz Kanca,Sharayu V Jangam, Saurabh Srivastav,Jonathan C Andrews,Michael F Wangler

bioRxiv the preprint server for biology (2024)

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Loss of Function in RBBP5 Results in a Syndromic Neurodevelopmental Disorder Associated with Microcephaly

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 medicine official journal of the American College of Medical Geneticsno. 11 (2024): 101218-101218

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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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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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De Novoand Inherited Variants Inddx39bcause 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,Erin Conboy,Remo Sanges,Michael F. Wangler,Brian H.Y. Chung,Francesco Vetrini

openalex（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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