Concepedia

Evren Gümüş

EG

Statistics

Publications

14

Citations

278

H-Index

11

Active since

2018

Affiliations

Harran University(Current)

Muğla University

University of California, San Francisco

Boston Children's Hospital

Children's Mercy Hospital

Evren Gümüş is an author at Harran University specializing in medicine, genetics, and clinical genetics.

ORCID

Top concepts

Publications per year

2018–2023

14

Publications

14

Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin <scp>B6</scp> cofactor supplementation

Piming Zhao, Isaac D Liu, Jeffrey B. Hodgin et al. · Journal of Inherited Metabolic Disease · 2020 · 32 citations · Full text

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe et al. · Brain · 2023 · 30 citations · Full text

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T)

Evren Gümüş · Journal of Clinical Medicine · 2018 · 25 citations · Full text

MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome

Kenneth W. Martin, Khalid Alhasan, Evren Gümüş et al. · American Journal of Neuroradiology · 2020 · 25 citations · Full text

Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration

Geneva LaForce, Jordan S. Farr, Jingyi Liu et al. · Neuron · 2022 · 25 citations · Full text

, , +7

1–5 of 14