Thomas C. Markello - Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA

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论文共 103 篇作者统计合作学者相似作者

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P143: Clinical investigation of bleeding diatheses in patients with Hermansky-Pudlak syndrome*

Christopher Song,Wendy Introne, Kevin O'Brien, Srikar Kuppa,Thomas Markello,William Gahl,May Christine Malicdan, Allan Alexander

Genetics in Medicine Open (2024): 101040

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Novel CUL3 Variant Causing Familial Hyperkalemic Hypertension Impairs Regulation and Function of Ubiquitin Ligase Activity

Harish E Chatrathi,Jason C Collins,Lynne A Wolfe,Thomas C Markello,David R Adams,William A Gahl,Achim Werner,Prashant Sharma

HYPERTENSION（2022）

引用19浏览0WOS引用

Potential therapeutic response in a severe case of autosomal dominant osteopetrosis type I

Syed Maisam Jafri,Elizabeth A. Burke,David R. Adams, Colleen Evans, Dorothy Bulas, Stuart A. Weinerman,Kristen Pan,Michael T. Collins,Thomas C. Markello, Gilbert Vezina,William A. Gahl,Camilo Toro

Journal of Translational Genetics and Genomics (2022): 281-289

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A complete pedigree-based graph workflow for rare candidate variant analysis

Charles Markello,Charles Huang, Alex Rodriguez,Andrew Carroll,Pi-Chuan Chang,Jordan Eizenga,Thomas Markello,David Haussler,Benedict Paten

GENOME RESEARCH（2022）

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Changrui Xiao,Thomas Markello,Wadih M Zein, Rachel Bishop,Catherine Groden,William Gahl,Camilo Toro

NEUROLOGY-GENETICS（2021）

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Compound Heterozygous Kctd7 Variants In Progressive Myoclonus Epilepsy

Elizabeth A Burke,Morgan Sturgeon,Diane B Zastrow,Liliana Fernandez,Cameron Prybol,Shruti Marwaha, Edward P Frothingham,Patricia A Ward,Christine M Eng,Laure Fresard,Stephen B Montgomery,Gregory M Enns,

JOURNAL OF NEUROGENETICS（2021）

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FOXR1 regulates stress response pathways and is necessary for proper brain development

Andressa Mota, Hannah K Waxman,Rui Hong,Gavin D Lagani,Sheng-Yong Niu,Féodora L Bertherat,Lynne Wolfe,Christine May Malicdan,Thomas C Markello,David R Adams,William A Gahl,Christine S Cheng,

PLOS GENETICS（2021）

引用4浏览0WOS引用

GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

A Reghan Foley,Yaqun Zou,James E Dunford,Jachinta Rooney,Goutam Chandra,Hui Xiong,Volker Straub,Thomas Voit,Norma Romero,Sandra Donkervoort,Ying Hu,Thomas Markello,

ANNALS OF NEUROLOGY（2020）

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Forkhead box R1-mediated stress response linked to a case of human microcephaly and brain atrophy

Andressa Mota,Rui Hong,Sheng-Yong Niu,Féodora L. Bertherat,Lynne Wolfe,Christine May Malicdan,Thomas C. Markello,David R. Adams,William A. Gahl,Christine Cheng,Uwe Beffert,Angela Ho

biorxiv（2020）

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Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Kristin M Ates,Tong Wang,Trevor Moreland,Rajalakshmi Veeranan-Karmegam,Manxiu Ma, Chelsi Jeter, Priya Anand,Wolfgang Wenzel,Hyung-Goo Kim,Lynne A Wolfe,Joshi A Stephen,David R Adams,

DISEASE MODELS & MECHANISMS（2020）

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