Alper Gezdirici

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 24

Top Venues

American journal of medical genetics. Part A

Molecular biology reports

European journal of human genetics : EJHG

Turkish archives of otorhinolaryngology

Istanbul Başakşehir Pine and Sakura City Hospital

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

Affiliation History

Istanbul Başakşehir Pine and Sakura City Hospital May 15 2020

Turkey

Medical Geneticist :: Medical Genetics

İstanbul Sağlık Bilimleri Üniversitesi Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi Mar 17 2014 - May 14 2020

Turkey

Medical Geneticist :: Medical Genetics

Publications

Burak Anıl Tuğci, Alper Gezdirici, Can Berk Aşaroğlu, Ercan Atasoy, İbrahim Sayin, Zahide Mine Yazıcı
Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant. Turkish archives of otorhinolaryngology 61 (4) (2024)
Burak Anıl Tuğci, Alper Gezdirici, Can Berk Aşaroğlu, Ercan Atasoy, İbrahim Sayin, Zahide Mine Yazıcı
Cochlear Implantation in Primrose Syndrome with a Novel ZBTB20 Gene Variant. Turkish archives of otorhinolaryngology 61 (4) (2024)
Emel Hatun Aytac, Alper Gezdirici, Zümrüt Kocabey Sütçü, Ezgi Gökpinar İli
A novel variant of the STAR gene: nonclassical presentation from Turkey. Journal of pediatric endocrinology & metabolism : JPEM (2024)
Mustafa Doğan, Kerem Terali, Recep Eroz, Hüseyin Kılıç, Alper Gezdirici, Burçin Gönüllü
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome. Molecular biology reports 51 (1) (2024)
Mustafa Doğan, Kerem Terali, Recep Eroz, Hüseyin Kılıç, Alper Gezdirici, Burçin Gönüllü
Discovery of a novel homozygous SOD1 truncating variant bolsters infantile SOD1 deficiency syndrome. Molecular biology reports 51 (1) (2024)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler, Yaren Sena Hanci, Bulent Kara, Deniz Akkoyunlu Sünnetçi, Naci Cine, Adnan Deniz, Tolgahan Özer, Cemile Büşra Ölçülü, Özlem Yilmaz, Seda Kanmaz, Sanem Yilmaz, Hasan Tekgül, Nihal Yildiz, Elif Acar Arslan, Ali Cansu, Nihal Olgaç Dündar, Fatma Kusgoz, Elif Didinmez, Pinar Gencpinar, Tuğçe Aksu Uzunhan, Biray Ertürk, Alper Gezdirici, Akif Ayaz, Akgün Ölmez, Müge Ayanoğlu, Ayşe Fahriye Tosun, Yasemin Topçu, Betül Kılıç, Kursad Aydin, Ezgi Çağlar, Özlem Ersoy Kosvali, Cetin Okuyaz, Şeyda Besen, Leman Tekin Orgun, İlknur Erol, Deniz Yüksel, Abdullah Sezer, Ergin Atasoy, Ülkühan Öztoprak, Serdal Güngör, Bilge Ozgor, Meral Karadağ, Cengiz Dilber, Bahtiyar Şahinoğlu, Emek Uyur Yalçın, Nilüfer Eldes Hacifazlioglu, Ahmet Yaramiş, Pinar Edem, Hande Gazeteci Tekin, Ünsal Yilmaz, Aycan Ünalp, Sevim Turay, Didem Biçer, Gülen Gül Mert, İpek Dokurel Çetin, Serkan Kırık, Gülten Öztürk, Yasemin Karal, Aslıhan Sanri, Ayşe Aksoy, Muzaffer Polat, Nezir Özgün, Didem Soydemir, Gamze Sarikaya Uzan, Döndü Ülker Üstebay, Ayşen Gök, Mehmet Can Yeşilmen, Uluç Yaş, Gökhan Karakülah, Ahmet Bursali, Yavuz Oktay, A Semra Hiz
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study. Neuropediatrics (2023)
Salim Sezer, Suleyman Cemil Oglak, Başak Kaya, Mustafa Behram, Zeynep Gedik Özköse, Sema Süzen Çaypınar, Züat Acar, Alper Gezdirici, Helen Bornaun
Fetal left ventricular myocardial performance index measured at 11-14 weeks of gestation in fetuses with an increased nuchal translucency. The journal of obstetrics and gynaecology research (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Sadık Etka Bayramoğlu, Nihat Sayin, Mehmet Erdoğan, Sümeyra Doğan, Alper Gezdirici, Merih Çetinkaya
Extraretinal Fibrovascular Proliferation in a Neonate Possibly Associated with an ESAM Gene Variant. Turkish journal of ophthalmology (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Mustafa Doğan, Recep Eroz, Semih Bolu, Hüseyin Yüce, Alper Gezdirici, Ilknur Arslanoglu, Kerem Terali
Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel. Molecular biology reports 49 (8) (2022)
Cüneyd Yavaş, Cemal Un, Evrim Çelebi, Alper Gezdirici, Mustafa Doğan, Ezgi Gökpinar İli, Tunay Doğan, Nehir Özdemir Özgentürk
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome. Revista da Associacao Medica Brasileira (1992) 68 (9) (2022)
Mustafa Doğan, Recep Eröz, Kerem Terali, Alper Gezdirici, Semih Bolu
Clinical, radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity. Molecular biology reports 48 (2) (2021)
Alper Gezdirici, Kerem Terali, Elif Yılmaz Gülec, Helen Bornaun, Mustafa Dogan, Recep Eröz
An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants. Journal of human genetics 66 (7) (2021)
Maxim Verlee, Aude Beyens, Alper Gezdirici, Elif Yilmaz Gulec, Lore Pottie, Silke De Feyter, Michiel Vanhooydonck, Piyanoot Tapaneeyaphan, Sofie Symoens, Bert Callewaert
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations. Genes 12 (4) (2021)
Julia Brinkmann, Christina Lissewski, Valentina Pinna, Yoann Vial, Francesca Pantaleoni, Francesca Lepri, Paola Daniele, Birute Burnyte, Goran Cuturilo, Christine Fauth, Alper Gezdirici, Dieter Kotzot, Elif Yılmaz Güleç, Violeta Iotova, Denny Schanze, Francis Ramond, Markéta Havlovicová, Gulen Eda Utine, Pelin Ozlem Simsek-Kiper, Milena Stoyanova, Alain Verloes, Alessandro De Luca, Tartaglia Marco, Hélène Cave, Martin Zenker
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. European journal of human genetics : EJHG 29 (3) (2020)
Claudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C Nannuru, Davut Pehlivan, Bo Yuan, Johanna Jimenez, Yavuz Sahin, Ingrid S Paine, Zeynep Coban Akdemir, Saathyaki Rajamani, Jeffrey Staples, John Dronzek, Kristen Howell, Jawid M Fatih, Silvia Smaldone, Alan E Schlesinger, Norman Ramírez, Alberto S Cornier, Melissa A Kelly, Robert Haber, Shek Man Chim, Kristy Nieman, Nan Wu, Johnathon Walls, null null, William Poueymirou, Chia-Jen Siao, V Reid Sutton, Marc S Williams, Jennifer E Posey, Richard A Gibbs, Simon Carlo, David H Tegay, Aris N Economides, James R Lupski
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide. European journal of human genetics : EJHG 28 (9) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Alper Gezdirici