Concepedia

Gülsen Akay

GA

Statistics

Publications

8

Citations

285

H-Index

8

Active since

2018

Affiliations

Texas Children's Hospital(Current)

Baylor College of Medicine

Baylor Genetics

University of Utah

Istanbul University

Gülsen Akay is an author at Texas Children's Hospital specializing in life sciences, human genetics, and genetics.

Publications per year

2018–2022

8

Publications

8

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

Tadahiro Mitani, Sedat Işıkay, Alper Gezdirici et al. · The American Journal of Human Genetics · 2021 · 102 citations · Full text

, , +15

Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?

Whitney Wooderchak‐Donahue, Gülsen Akay, Kevin J. Whitehead et al. · Genetics in Medicine · 2019 · 59 citations · Full text

, , +10

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 39 citations · Full text

, , +16

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Johannes Münch, Marie Engesser, Ria Schönauer et al. · Kidney International · 2022 · 19 citations · Full text

, , +17

Risk of sudden cardiac death in <scp><i>EXOSC5</i></scp>‐related disease

Daniel G. Calame, Isabella Herman, Jawid M. Fatih et al. · American Journal of Medical Genetics Part A · 2021 · 18 citations · Full text

, , +17

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