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Office
Columbia Univ Coll of Phys & Surg
New York, NY 10001
Education & Training
University of Michigan Health SystemInternship, Pediatrics/Medical Genetics and Genomics, 2022
Columbia University Vagelos College of Physicians and SurgeonsClass of 2022
Publications & Presentations
PubMed
- 33 citationsGenotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorderLia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane
HGG Advances. 2021-04-08 - 16 citationsExpansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A )Simranpreet Kaur, Nicole J Van Bergen, Kristen J. Verhey, Cameron J. Nowell, Breane G. Budaitis
Human Mutation. 2020-07-11 - 89 citationsThe behavioral phenotype of FMR1 mutationsLia Boyle, Walter E. Kaufmann
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2010-11-15
Professional Memberships
- American Society of Human GeneticsMember
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