Evren Gumus (E Gumus, Evren Gümüş)

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 13

Top Topics

Duchenne Muscular Dystrophy

Genome Wide Identification

Congenital Heart Disease

Top Venues

Fetal and pediatric pathology

European journal of human genetics : EJHG

Annals of human genetics

Journal of clinical medicine

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

Publications

Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG (2023)
Jiyong Wang, Aidin Foroutan, Ellen Richardson, Steven A Skinner, Jack Reilly, Jennifer Kerkhof, Cynthia J Curry, Patrick S Tarpey, Stephen P Robertson, Isabelle Maystadt, Boris Keren, Joanne W Dixon, Cindy Skinner, Rachel Stapleton, Lyse Ruaud, Evren Gumus, Phillis Lakeman, Mariëlle Alders, Matthew L Tedder, Charles E Schwartz, Michael J Friez, Bekim Sadikovic, Roger E Stevenson
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. European journal of human genetics : EJHG 30 (4) (2022)
Evren Gumus, Ebru Tuncez, Ozlem Oz, Merve Saka Güvenç
Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome". Annals of human genetics 85 (3-4) (2021)
Tuba Dinçer, Evren Gumus, Bayram Toraman, İdris Er, Gokhan Yildiz, Zafer Yüksel, Ersan Kalay
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome. American journal of medical genetics. Part A 185 (6) (2021)
Muhammed Seyhanli, Ozkan Ilhan, Evren Gumus, Meltem Bor, Meryem Karaca
Pseudohypoaldosteronism Type 1 Newborn Patient with a Novel Mutation in SCNN1B. Journal of pediatric intensive care 9 (2) (2020)
Evren Gumus, Ebru Tuncez, Ozlem Oz, Merve Saka Guvenc
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey. Annals of human genetics 85 (1) (2020)
K W Martin, Kathryn Nicole Weaver, Khalid A Alhasan, Evren Gumus, Bonnie R Sullivan, Martin Zenker, Friedhelm Hildebrandt, Julie D Saba
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. AJNR. American journal of neuroradiology 41 (10) (2020)
Evren Gumus, Ebru Temiz, Baran Sarıkaya, Ozgür Yüksekdag, Serkan Sipahioglu, Ataman Gonel
The Association Between BMP-2, UQCC1 and CX3CR1 Polymorphisms and the Risk of Developmental Dysplasia of the Hip. Indian journal of orthopaedics 55 (1) (2020)
Evren Gumus, Armagan Ozgur
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. Fetal and pediatric pathology 39 (3) (2019)
Evren Gumus
A Novel Frameshift Homozygous Mutation in DHCR7 with a Known Missense Homozygous Mutation in the PROC in a 6-Year-Old Boy: A Child with Two Rare Genetic Diseases. Journal of pediatric genetics 8 (3) (2019)
Evren Gumus
A Hemizygous 370 Kilobase Microduplication at Xq13.1 in a Three-Year-Old Boy With Autism and Speech Delay. Fetal and pediatric pathology 38 (3) (2019)
Evren Gumus
Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome? Ophthalmic genetics 39 (3) (2018)
Evren Gumus
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). Journal of clinical medicine 7 (5) (2018)