RebeccaAhrens-NicklasMD

Medical Genetics

Physician

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Office
34th Civic Center Boulevard 9nw55
Choppediatricsmedical Genetics Residency Program
Philadelphia, PA 19104
Phone+1 215-590-1220

Fax+1 215-590-2768

Children's Hospital of PhiladelphiaResidency, Pediatrics/Medical Genetics and Genomics, 2011 - 2016
Weill Cornell MedicineClass of 2011

PubMed

1 citations
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo
Genetics in Medicine. 2025-03-01
Contribution of Brain Intrinsic Branched-Chain Amino Acid Metabolism in a Novel Mouse Model of Maple Syrup Urine Disease.
Amanda C Kuhs, Laura Ohl, Tegan Thurston, Jeet Singh, Sangeetha Bhuyan
Journal of Inherited Metabolic Disease. 2025-03-01
Gene therapies for neurogenetic disorders.
Orrin Devinsky, Jeff Coller, Rebecca Ahrens-Nicklas, X Shawn Liu, Nadav Ahituv
Trends in Molecular Medicine. 2025-02-17

Grant Supports Gene-Editing Research for Rare Metabolic DiseasesOctober 9th, 2024
Effective New Gene Therapy to Treat Multiple Sulfatase DeficiencySeptember 9th, 2024
Researchers Develop Gene Editing Approaches for Phenylketonuria TreatmentNovember 3rd, 2023

Investigation Of Arrhythmias In Anthropomorphized Murine Cardiac Myocytes.National Heart, Lung, And Blood Institute2008–2010