Özlem Akgün Doğan (Özlem Akgün-Doğan, Ozlem Akgun Dogan, Ozlem Akgun Dogan, Ozlem Akgun-Dogan)

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 13

Top Topics

Mitochondrial Dna

Attention Deficit Hyperactivity Disorder

Top Venues

Clinical rheumatology

American journal of medical genetics. Part A

European journal of human genetics : EJHG

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

Publications

Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Özlem Akgün Doğan, Francisca Díaz-González, Alexander Augusto de Lima Jorge, Neslihan Onenli-Mungan, Nathalia Liberatoscioli Menezes Andrade, Laurana de Polli Cellin, Serdar Ceylaner, Maria Barcellos Rosa Modkovski, Yasemin Alanay, Karen E Heath
Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant. European journal of human genetics : EJHG (2023)
Alejandro Parra, Rachel Rabin, John G Pappas, Patricia Pascual, Mario Cazalla, Pedro Arias, Natalia Gallego-Zazo, Alfredo Santana, Ignacio Arroyo, Mercè Artigas, Harry Pachajoa, Yasemin Alanay, Özlem Akgün Doğan, Lyse Ruaud, Nathalie Couque, Jonathan Levy, Gloria Liliana Porras-Hurtado, Fernando Santos-Simarro, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Hugo Muñoz-Hernández, Julián Nevado, null Spanish OverGrowth Registry Initiative, Jair Antonio Tenorio Castaño, Pablo Lapunzina
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature. Genes 14 (6) (2023)
Heves Kirmizibekmez, Yasemin Kendir Demirkol, Özlem Akgün Doğan, Gülcan Seymen, Elif İnan Balcı, Pınar Atla, Fatma Dursun
Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene. Journal of pediatric endocrinology & metabolism : JPEM 35 (5) (2022)
Nihat Buğra Ağaoğlu, Busra Unal, Özlem Akgün Doğan, Payam Zolfagharian, Pari Sharifli, Aylin Karakurt, Burak Can Senay, Tugba Kizilboga Akgun, Jale Yildiz, Gizem Dinler Doganay, Hamdi Levent Doganay
Determining the accuracy of next generation sequencing based copy number variation analysis in Hereditary Breast and Ovarian Cancer. Expert review of molecular diagnostics 22 (2) (2022)
Özlem Akgün Doğan, Pelin Ozlem Simsek-Kiper, Ekim Taşkıran, Anna Schossig, Gülen Eda Utine, Johannes Zschocke, Koray Boduroglu
Kohlschütter-Tönz Syndrome With a Novel ROGD1 Variant in 3 Individuals: A Rare Clinical Entity. Journal of child neurology 36 (10) (2021)
Özlem Akgün Doğan, Nihat Buğra Ağaoğlu, Yasemin Kendir Demirkol, Levent Doğanay, Yakup Ergül, Mehmet Karacan
Mutational Spectrum of Congenital Long QT Syndrome in Turkey; Identification of Twelve Novel Mutations Across KCNQ1, KCNH2, SCN5A, KCNJ2, CACNA1C, CALM1. Journal of cardiovascular electrophysiology (2021)
Betul Sozeri, Ferhat Demir, Hafize Emine Sönmez, Serife Gül Karadag, Yasemin Kendir Demirkol, Özlem Akgün Doğan, Hamdi Levent Doganay, Nuray Aktay Ayaz
Comparison of the clinical diagnostic criteria and the results of the next-generation sequence gene panel in patients with monogenic systemic autoinflammatory diseases. Clinical rheumatology 40 (6) (2020)
Ferhat Demir, Özlem Akgün Doğan, Yasemin Kendir Demirkol, Kübra Ermiş Tekkuş, Sezin Canbek, Serife Gül Karadag, Hafize Emine Sönmez, Nuray Aktay Ayaz, Hamdi Levent Doganay, Betül Sözeri
Genetic panel screening in patients with clinically unclassified systemic autoinflammatory diseases. Clinical rheumatology 39 (12) (2020)
Özlem Akgün Doğan, Pelin Özlem Şimsek Kiper, Ekim Taskiran, Christina Lissewski, Julia Brinkmann, Denny Schanze, Rahşan Göçmen, Deniz Cagdas, Yelda Bilginer, Gülen E Utine, Martin Zenker, Seza Ozen, İlhan Tezcan, Mehmet Alikasifoglu, Koray Boduroğlu
ADA2 deficiency in a patient with Noonan syndrome-like disorder with loose anagen hair: The co-occurrence of two rare syndromes. American journal of medical genetics. Part A 179 (12) (2019)
Betul Sozeri, Gözde Ercan, Özlem Akgün Doğan, Jale Yildiz, Ferhat Demir, Hamdi Levent Doganay
The same mutation in a family with adenosine deaminase 2 deficiency. Rheumatology international 41 (1) (2019)