日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Biallelic Truncating DNAH14 Variant in Siblings with Neurodevelopmental Disorder and Predominant Ataxia: Clinical Report and Literature Review

双等位基因截断型DNAH14变异体在患有神经发育障碍和以共济失调为主的同胞中的表现:临床报告和文献综述

Baris, Savas; Dogan, Mustafa; Terali, Kerem; Gezdirici, Alper; Eroz, Recep; Yucel, Peren Perk; Kilic, Huseyin; Yavas, Cuneyd; Yildirim, Gizem; Baris, Ibrahim

Phenotype-Driven Next-Generation Sequencing and Structure-Based In Silico Analysis Reveal Disease-Specific Diagnostic Yield and Genotype-Phenotype Correlations in Inherited Kidney Diseases

基于表型的下一代测序和基于结构的计算机分析揭示了遗传性肾病的疾病特异性诊断率和基因型-表型相关性

Baris, Savas; Terali, Kerem; Bozlak, Serdar; Yilmaz, Neslihan; Yilmaz, Halil Ibrahim; Yavas, Cuneyd; Eroz, Recep; Hazaloglu, Mursel; Ozen, Kubra; Gezdirici, Alper; Dogan, Mustafa; Kilic, Huseyin; Demir, Senol; Baris, Ibrahim

Clinical and Genetic Characteristics of Pheochromocytoma and Paraganglioma: A Single-Center Experience Including a Rare VHL Variant

嗜铬细胞瘤和副神经节瘤的临床和遗传特征:单中心经验,包括一种罕见的VHL变异

Korkmaz Yilmaz, Merve; Kandemir Alibakan, Ozlem; Aydin Gumus, Aydeniz; Gezdirici, Alper; Karatay, Huseyin; Sari, Serkan; Matlim Ozel, Tugba; Niyazoglu, Mutlu; Hatipoglu, Esra

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

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

利用全外显子组测序揭示遗传性视网膜疾病患者的分子诊断

Yavas, Cuneyd; Arvas, Yunus Emre; Dogan, Mustafa; Gezdirici, Alper; Aslan, Elif Sibel; Karapapak, Murat; Barıs, Savas; Eroz, Recep

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants

RAS病患者的分子和临床特征:靶向二代测序panel结果及14个新的致病变异的鉴定

Ates, Kubra; Ozturk, Murat; Esener, Zeynep; Dogan, Mustafa; Gezdirici, Alper; Sarac, Hatice; Yeninarcilar, Busra; Fettahlioglu, Alperen; Camtosun, Emine; Dundar, Ismail; Güngör, Serdal; Ozgor, Bilge; Tekedereli, Ibrahim

Meckel-Gruber Syndrome due to Homozygous c.16del (p.Leu6SerfsTer15) Variant in the TCTN1: First Case from Türkiye

由TCTN1基因纯合c.16del (p.Leu6SerfsTer15)变异引起的梅克尔-格鲁伯综合征:土耳其首例病例

Turan, Leyla; Gökpinar Ili, Ezgi; Doğan, Mustafa; Erenel, Hakan; Gezdirici, Alper

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

HMZDupFinder:一种用于从外显子组测序数据中检测基因内纯合重复的稳健计算方法

Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M; Jhangiani, Shalini N; Li, He; Muzny, Donna; Fatih, Jawid M; Yesil, Gozde; Elçioglu, Nursel H; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G; Carvalho, Claudia M B; Posey, Jennifer E; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

WDR83OS基因的纯合变异会导致伴有高胆汁酸血症的神经发育障碍。

Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurélien; Biderman Waberski, Marta; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Øystein L; Busk, Øyvind L; Houlden, Henry; Ghayoor Karimiani, Ehsan; Beiraghi Toosi, Mehran; Shervin Badv, Reza; Najarzadeh Torbati, Paria; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M; Huang, Kevin; Petree, Cassidy; Calame, Daniel G; von der Lippe, Charlotte; Alkuraya, Fowzan S; Wali, Sami; Lupski, James R; Varshney, Gaurav K; Posey, Jennifer E; Pehlivan, Davut

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome

深入了解患有 Alport 综合征的土耳其人群的 COL4A3、COL4A4 和 COL4A5 变异以及基因型-表型相关性

Cuneyd Yavas, Nehir Ozdemir Ozgenturk, Mustafa Dogan, Alper Gezdirici, Ece Keskin, Ezgi Gokpınar İli, Tunay Dogan, Evrim Celebi, Onur Bender, Cemal Un