Maura Ruzhnikov MD
Clinical Assistant Professor of Neurology and Medical Genetics
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716 North BroadwayBaltimore, MD 21205
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Education & Training
Stanford Health Care-Sponsored Stanford UniversityFellowship, Medical Biochemical Genetics, 2015 - 2017
University of California San Francisco School of MedicineResidency, 2010 - 2015
New York University School of MedicineClass of 2010
Certifications & Licensure
CA State Medical License 2012 - 2025
MD State Medical License 2023 - 2025
IL State Medical License 2017 - 2020
American Board of Psychiatry and Neurology Neurology with Special Qualification in Child Neurology
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.Queenie K-G Tan, Allyn McConkie-Rosell, Rachel Mahoney, Rebecca C Spillmann, Kelly Schoch
American Journal of Medical Genetics. Part A. 2025-04-01 - 1 citationsRecurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.Dong Li, Suzanne Jan de Beur, Cuiping Hou, Maura Rz Ruzhnikov, Hilary Seeley
JCI Insight. 2024-12-20 - Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.Laura Ann Adang, Samuel Groeschel, Chloe Grzyb, Russell D'Aiello, Francesco Gavazzi
Molecular Genetics and Metabolism. 2024-08-01
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