MauraRuzhnikovMD

Clinical Assistant Professor of Neurology and Medical Genetics

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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

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

PubMed

Recurrent 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
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. 2024-12-04
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