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Dr. Emanuel investigates diseases caused by abnormalities of human chromosome 22. These include the most common microdeletion syndrome, 22q11.2 deletion syndrome, and the most common recurrent constitutional translocation in humans, the t(11;22). Her efforts include discerning the mechanisms involved in generating the deletion and translocation as well as looking for modifiers of the phenotype in individuals with the deletion syndrom
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HUMAN BRAIN MAPPINGno. 1 (2024): e26553-e26553
Donna McDonald-McGinn, Victoria Giunta,T. Blaine Crowley,Daniel McGinn, Lydia Rockart, Audrey Green,Beverly Emanuel,Rosemarie Smith,Ellen Moran,Maciej Geremek,Elaine Zackai,Beata Nowakowska
Genetics in Medicine Open (2024): 101114
Lisanne Vervoort,Nicolas Dierckxsens, Marta Sousa Santos, Senne Meynants,Erika Souche, Ruben Cools, Tracy Heung,Koen Devriendt, Hilde Peeters,Donna M McDonald-McGinn,Ann Swillen,Jeroen Breckpot,
bioRxiv : the preprint server for biology (2024)
Psychological medicineno. 14 (2023): 1-10
Genetics in Medicine Openno. 1 (2023): 100277-100277
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EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 59-59
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American Journal of Obstetrics and Gynecology (2023)
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