Joseph T. C. Shieh - Institute of Human Genetics and Department of Pediatrics, University of California San Francisco

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论文共 116 篇作者统计合作学者相似作者

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Neurodevelopmental Delay, Musculoskeletal Disorders and Dysmorphia Associated with a Novel Pathogenic Interstitial Deletion of Chromosome 10Q21.1q21.3

Dibyendu Dutta,Jennifer Black, Emily A. Montoya,Thomas Andrew Burrow,Joseph Shieh, Bobbi Mcgivern, Michelle Raymond, Christina B. Sheedy, Scott C. Smith, Ria Garg

JOURNAL OF MEDICAL GENETICS（2025）

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A Novel Splice Site Variant in DEGS1 Leads to Aberrant Splicing and Loss of DEGS1 Enzyme Activity, a VUS Resolved

Holly C Beale, Victor Tse, Joanna Y Lee, Jon Akutagawa, Yusuph Mavura, Brandon Saint-John,Allison Cheney, Dennis R Mulligan, Guillermo Chacaltana, Martin Gutierrez, Jessica Tenney,Joseph T Shieh, Pierre-Marie Martin,Tiffany Yip,Ugur Hodoglugil, Alex J Fay,Angela N Brooks,Jessica Van Ziffle,Michael D Stone,Neil Risch,Jeremy R Sanford,Patrick Devine, Julie D Saba, Olena M Vaske,Anne Slavotinek

medRxiv the preprint server for health sciences (2025)

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Fetal Brain MRI Findings in Myotonic Dystrophy and Considerations for Prenatal Genetic Testing

Matthew A. Shear,Monica Penon-Portmann,Joseph T. Shieh,Orit A. Glenn,Mari-Paule Thiet,Shilpa Chetty,Teresa N. Sparks,Dawn Gano

NEUROLOGY-GENETICS（2024）

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Cell Type Specificity of Mosaic Chromosome 1q Gain Resolved by Snrna-Seq in a Case of Epilepsy with Hyaline Protoplasmic Astrocytopathy

Kun Leng,Cathryn R. Cadwell,Walter P. Devine,Tarik Tihan,Zhongxia Qi,Nilika S. Singhal,Orit A. Glenn,Sherry Kamiya,Arun P. Wiita,Amy C. Berger,Joseph T. Shieh,Erron W. Titus,Mercedes F. Paredes,Vaibhav Upadhyay

NEUROLOGY-GENETICS（2024）

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Myhre Syndrome in Adulthood: Clinical Variability and Emerging Genotype-Phenotype Correlations

Eva Vanbelleghem,Tim Van Damme,Aude Beyens,Sofie Symoens,Kathleen Claes,Julie De Backer,Ilse Meerschaut,Floris Vanommeslaeghe,Sigurd E. Delanghe,Jenneke van den Ende,Tessi Beyltjens,Eleanor R. Scimone,Mark E. Lindsay,Lisa A. Schimmenti,Alicia M. Hinze,Emily Dunn,Natalia Gomez-Ospina,Isabelle Vandernoot, Thomas Delguste,Sandra Coppens,Valerie Cormier-Daire,Marco Tartaglia,Livia Garavelli,Joseph Shieh,Senol Demir,Esra Arslan Ates,Martin Zenker,Mersedeh Rohanizadegan,Greysha Rivera-Cruz,Sofia Douzgou, Justin Smith, Jessica Simkins, Don Clark, Stephanie Karatsinides, Sandy Taylor, Ines White, Patti Schultz, Kate Wears, Levi Holder, Kathy Young,Angela E. Lin,Bert Callewaert

European Journal of Human Genetics (2024)

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Genomic Technologies to Improve Variation Identification in Undiagnosed Diseases

Joseph T. C. Shieh

PEDIATRICS AND NEONATOLOGY（2023）

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Heterozygous Nonsense Variants in the Ferritin Heavy Chain GeneFTH1Cause a Novel Pediatric Neuroferritinopathy

Joseph T Shieh,Jesus A Tintos-Hernández,Chaya N. Murali,Monica Penon-Portmann,Marco Flores-Mendez,Adrian Santana,Joshua A. Bulos,Kang Du,Lucie Dupuis,Nadirah Damseh,Roberto Mendoza-Londoño, Camilla Berera,Julieann C Lee,Joanna J Phillips,César A P F Alves,Ivan J Dmochowski,Xilma R Ortiz-González

crossref（2023）

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Supplementary Figure S1 from Mechanisms of Resistance to EGFR Inhibition Reveal Metabolic Vulnerabilities in Human GBM

Andrew McKinney,Olle R. Lindberg,Jane R. Engler,Katharine Y. Chen,Anupam Kumar,Henry Gong,Kan V. Lu,Erin F. Simonds,Timothy F. Cloughesy, Linda M. Liau, Michael Prados,Andrew W. Bollen,Mitchel S. Berger,Joseph T.C. Shieh,C. David James,Theodore P. Nicolaides,William H. Yong,Albert Lai, Monika E. Hegi,William A. Weiss,Joanna J. Phillips

openalex（2023）

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