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个人简介
I use detailed phenotypic characterization and a range of genome analysis tools to discover pathogenic variants that cause rare developmental and metabolic syndromes. I then carry out follow up experiments to support or rule out candidate genes. With my collaborators, we have discovered genes that cause Adams-Oliver syndrome, hereditary spastic paraplegia, ischiospinal dysostosis, Jeune syndrome, and more.
研究兴趣
论文共 140 篇作者统计合作学者相似作者
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HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2024): 100259-100259
Christiane Auray-Blais,Pamela Lavoie,Tristan Martineau, Georges Kabala Ntumba, Mohamed Gamrani,Aneal Khan,Gheona Altarescu,Anna Lehman, Ozlem Goker-Alpan,Albina Nowak,Michael L West,Daniel G Bichet
Bioanalysisno. 23 (2023): 1421-1437
Pediatric pulmonologyno. 7 (2023): 1942-1949
medRxiv (Cold Spring Harbor Laboratory) (2023)
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Rupa Udani,Kala F. Schilter,Rebecca C. Tyler,Brandon A. Smith, Jaime L. Wendt-Andrae, Ulrike P. Kappes, Gunter Scharer,Anna Lehman, Michelle Steinraths,Honey V. Reddi
Stem cell research (2023): 103174-103174
Pierre Boerkoel, Stephanie Huynh,Gui Xiang Yang,Cornelius F Boerkoel,Millan S Patel,Anna Lehman,Jefferson Terry,Adrienne Elbert
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 6 (2023): 1593-1598
Neurologyno. 3 (2023): E238-E252
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