Evren Gümüş - Concepedia

Author

Evren Gümüş

Harran University ORCID

Also Known As

E. Gumus, Evren GUMUS, Evren Gumus, Evren Gümüş, Gumus Evren, Gumus, Evren, Gümüş, Evren, evren gümüş

Publications

351

Citations

H-Index

Concepts

All Affiliations

Harran University Muğla University University of California, San Francisco Boston Children's Hospital Children's Mercy Hospital

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	93
2	Public Health	1	1	13
3	Epidemiology	1	1	13
4	Molecular Genetics	1	1	20
5	Molecular Medicine	1	1	24

Evren Gümüş

Publications

278

Citations

H-Index

Page 1

	Year	Citations
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin <scp>B6</scp> cofactor supplementation Piming Zhao, Isaac D Liu, Jeffrey B. Hodgin, Journal of Inherited Metabolic Disease	2020	32
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening Trine Tangeraas, Juliana Ribeiro Constante, Paul Hoff Backe, Brain	2023	30
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
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome Kenneth W. Martin, Khalid Alhasan, Evren Gümüş, American Journal of Neuroradiology	2020	25
Suppression of premature transcription termination leads to reduced mRNA isoform diversity and neurodegeneration Geneva LaForce, Jordan S. Farr, Jingyi Liu, Neuron Rna ProcessingNeurodegenerative DiseasesDevelopmental BiologyGeneticsGene Regulation	2022	25
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation Evren Gümüş European Journal of Medical Genetics Ahdc1 Missense MutationTwo-year-old PatientPathologyCraniofacial DevelopmentMedicine	2019	24
A novel COQ7 mutation causing primarily neuromuscular pathology and its treatment options Ying Wang, Evren Gümüş, Siegfried Hekimi Molecular Genetics and Metabolism Reports	2022	24
Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders Fatima Abdelfattah, Ariana Kariminejad, Anne‐Karin Kahlert, Human Mutation Rare DiseasesMendelian DisorderSerine Biosynthesis DisordersGenetic DisorderGenetics	2020	20
Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Chaofan Zhang, Human Mutation	2022	18
A different look at genetic factors in individuals with non-obstructive azoospermia or oligospermia in our research study: To whom, which threshold, when, in what way? Evren Gümüş, Eyyüp Sabri Pelit, Eser Ördek, Revista Internacional de Andrología Non-obstructive AzoospermiaDisease SusceptibilityGenetic DisorderGenetic EpidemiologyClinical Genetics	2020	13

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