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Frontiers in Pediatrics|June 3, 2021
Update on the Molecular Genetics of Timothy SyndromeRosemary Bauer, Katherine W Timothy, Andy Golden
Disease Models & Mechanisms|August 9, 2021
Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengthsPeter A Kropp, Rosemary Bauer, Isabella Zafra, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 2024
Rare variation in LMNA underlies polycystic ovary syndrome (PCOS) pathogenesis in two independent cohortsRosemary Bauer, Chloe Parker, Lidija K Gorsic, et al.
Medrxiv : the Preprint Server for Health Sciences|August 20, 2025
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traitsRosemary Bauer, Chloe Parker, Zulma Cardona Matos, et al.
Medrxiv : the Preprint Server for Health Sciences|June 3, 2024
A Natural History Study of Timothy SyndromeKatherine W Timothy, Rosemary Bauer, Kerry A Larkin, et al.
Orphanet Journal of Rare Diseases|November 23, 2024
A Natural History Study of Timothy SyndromeKatherine W Timothy, Rosemary Bauer, Kerry A Larkin, et al.
Human Molecular Genetics|July 29, 2022
Opposing effects of genetic variation in MTCH2 for obesity versus heart failureJulie A Fischer, Tanner O Monroe, Lorenzo L Pesce, et al.
G3 (Bethesda, Md.)|January 31, 2022
Distinct mechanoreceptor pezo-1 isoforms modulate food intake in the nematode Caenorhabditis elegansKiley Hughes, Ashka Shah, Xiaofei Bai, et al.
Research Square|December 3, 2025
Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus StatementJack F G Underwood, Katherine W Timothy, Holly Tyroll, et al.
European Journal of Human Genetics : EJHG|July 9, 2026
Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statementJack F G Underwood, Katherine W Timothy, Holly Tyroll, et al.
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