Concepedia

Maura Ruzhnikov

MR

Statistics

Publications

33

Citations

1.3K

H-Index

22

Active since

2018

Affiliations

Baylor College of Medicine(Current)

Stanford University

Boston Children's Hospital

Harvard University

Stanford Medicine

Maura Ruzhnikov is an author at Baylor College of Medicine specializing in genetics, life sciences, and molecular genetics.

ORCID

Publications per year

2018–2024

33

Publications

33

Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing

Sneha D. Goenka, John E. Gorzynski, Kishwar Shafin et al. · Nature Biotechnology · 2022 · 120 citations · Full text

, , +17

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Elena‐Raluca Nicoli, Mary Weston, Mary E. Hackbarth et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

, , +12

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation

Christopher J. Yuskaitis, Maura Ruzhnikov, Katherine B. Howell et al. · Pediatric Neurology · 2018 · 70 citations · Full text

, , +12

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Dongxue Mao, Chloe M. Reuter, Maura Ruzhnikov et al. · The American Journal of Human Genetics · 2020 · 69 citations · Full text

, , +16

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 63 citations · Full text

, , +17

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