Maura R Z Ruzhnikov (Maura R Ruzhnikov)

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 4

Top Topics

Temporal Lobe Epilepsy

Insulin Resistance

Top Venues

Circulation. Genomic and precision medicine

Journal of inherited metabolic disease

American journal of medical genetics. Part A

Seminars in neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Ryan W Gates, Susanna Balcells, David A Stevenson, Ethylin Wang Jabs, Colette DeFilippo, Maura R Z Ruzhnikov, Christina G Tise
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome. American journal of medical genetics. Part A (2023)
John E Gorzynski, Sneha D Goenka, Kishwar Shafin, Tanner D Jensen, Dianna G Fisk, Megan E Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Jonathan A Bernstein, Scott R Ceresnak, Pi-Chuan Chang, Jeffrey W Christle, Henry ChubbW, Kyla Dunn, Daniel R Garalde, Joseph Guillory, Maura R Z Ruzhnikov, Chris Wright, Courtney J Wusthoff, Katherine Xiong, Seth A Hollander, Gerald J Berry, Miten Jain, Fritz J Sedlazeck, Andrew Carroll, Benedict Paten, Euan A Ashley
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock. Circulation. Genomic and precision medicine 15 (2) (2022)
Rebecca J Levy, Christina H Frater, William B Gallentine, Jennifer M Phillips, Maura R Z Ruzhnikov
Delineating the epilepsy phenotype of NGLY1 deficiency. Journal of inherited metabolic disease 45 (3) (2022)
Elise Brimble, Maura R Z Ruzhnikov
Metabolic Disorders Presenting with Seizures in the Neonatal Period. Seminars in neurology 40 (2) (2020)