Alper Gezdirici

Also affiliated with Sağlık Bilimleri Üniversitesi, İstanbul Başakşehir Çam ve Sakura Şehir Hastanesi, University of Health Sciences Antigua

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population”.

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

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0.697DataRank · unranked

103 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +95 more

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.005

N/A

0DataRank · unranked

17 citations

Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier +42 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.002

N/A

0DataRank · unranked

2 citations

Sheng‐Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille +30 more

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

Biallelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a syndromic neurodevelopmental disorder

medRxiv(2024)10.1101/2024.07.18.24310581

N/A

0DataRank · unranked

1 citations

Cailyn P Leo, Chenghong Deng, Kejia Zhang, Sheng‐Jia Lin, Reza Maroofian +75 more

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European Journal of Human Genetics(2020)10.1038/s41431-020-0632-x

N/A

0DataRank · unranked

40 citations

Gözde Yeşil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru +32 more