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Bio
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.
Research Interests
Papers共 153 篇Author StatisticsCo-AuthorSimilar Experts
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American journal of medical genetics. Part Ano. 6 (2024): e63548-e63548
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
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2024): 100259-100259
Derralynn A Hughes,Gere Sunder-Plassmann,Ana Jovanovic, Eva Brand,Michael L West,Daniel G Bichet, Antonio Pisani,Albina Nowak,Roser Torra, Aneal Khan,Olga Azevedo,Anna Lehman,
Journal of inherited metabolic disease (2024)
Emilie Theberge, Caroline Selvage,Kaye M. LeMoine, Rebecca Robichaud,Michael L. West,Sandra Sirrs, Tara Sedlak, Darwin Yeung,Anna Lehman
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Emilie Theberge, Caroline Selvage, Anita Thomas,Kaye M. LeMoine, Rebecca Robichaud, Lily Zhou,Darwin Yeung,Michael L. West,Sandra Sirrs,Anna Lehman
medrxiv(2024)
Emilie Theberge, Caroline Selvage,Kaye M. LeMoine, Rebecca Robichaud, Lily Zhou, Darwin Yeung,Michael L. West, Sandra Sirrs,Anna Lehman
MOLECULAR GENETICS AND METABOLISMno. 2 (2024)
Saskia B Wortmann,Rene G Feichtinger,Lucia Abela,Loes A van Gemert,Mélodie Aubart, Claire-Marine Dufeu-Berat,Nathalie Boddaert,Rene de Coo, Lara Stühn, Jasmijn Hebbink,Wolfram Heinritz, Julia Hildebrandt,
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
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