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

Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia.

CCN6 变异编码 WISP3 在进行性假性风湿性骨发育不良中的分子后果。

Guven Tasbicen Gulipek, Tufan Ali, Savsar Batuhan, Bulbul Alper, Tonbul Zeynep, Guzel Elif, Ayhan Dilay Hazal, Timucin Ahmet Can, Onat Umut Inci, Bayram Akcapinar Gunseli, Akgun Dogan Ozlem, Alanay Yasemin, Tahir Turanli Eda

BCL11B-related disease: a single phenotypic entity?

BCL11B相关疾病:单一表型实体?

Vedovato-Dos-Santos, J Heather; Tooze, Rebecca S; Sithambaram, Sivagamy; McCann, Emma; Alanay, Yasemin; Dogan, Ozlem A; Kilercik, Meltem; Bingol, Aysen; Ozek, Memet M; Johnson, David; Nellaker, Christoffer; Wilkie, Andrew O M; Twigg, Stephen R F

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

HPDL变异类型与临床疾病的发病和严重程度相关

Lee, Eun Hye; Kim-Mcmanus, Olivia; Yang, Jennifer H; Haas, Richard; Zaki, Maha S; Abdel-Salam, Ghada M H; Nakamura, Yuji; Abdel-Hamind, Mohamed S; Ebrahimi-Fakhari, Darius; Alecu, Julian E; Brunetti-Pierri, Nicola; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Gross, Stephanie; Alanay, Yasemin; Najarzadeh Totbati, Paria; Yadavilli, Manya; Friedman, Liana; Ojeda, Naomi Meave; Gleeson, Joseph G

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature

CUL3相关神经发育障碍:20例新患者的临床表型及潜在表型相关表观遗传特征的鉴定

van der Laan, Liselot; Silva, Ananília; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B A; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y; Levy, Michael A; Lock-Hock, Ngu; Maas, Saskia M; Mancini, Grazia M S; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Närhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M; Trajkova, Slavica; van Bever, Yolande; José van den Boogaard, Marie; van der Smagt, Jasper J; Barakat, Tahsin Stefan; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

一项关于未确诊罕见病的全球调查:观点、挑战和解决方案

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L; Ferrari, Gianluca; Lumaka, Aimé; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Béla; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I; Scaria, Vinod; Jamuar, Saumya S; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A; Wiafe, Samuel A; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

利用新一代测序技术评估儿童癫痫和/或发育迟缓的病因:单中心经验

Kava, Handan; Akgun-Dogan, Ozlem; Yesilyurt, Ahmet; Alanay, Yasemin; Isik, Ugur

Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females

8个新发现的颅额鼻综合征家族的临床和分子分析:重新审视女性表型谱的轻度端

Altunoglu, Umut; Karaman, Birsen; Alanay, Yasemin; Perçin, Ferda; Uyguner, Zehra Oya; Kayserili, Hülya

Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

借助首届“未确诊疾病黑客马拉松”,突破罕见病诊断的界限

Delgado-Vega, Angelica Maria; Cederroth, Helene; Taylan, Fulya; Ekholm, Katja; Ek, Marlene; Thonberg, Håkan; Jemt, Anders; Nilsson, Daniel; Eisfeldt, Jesper; Bilgrav Saether, Kristine; Höijer, Ida; Akgun-Dogan, Ozlem; Asano, Yui; Barakat, Tahsin Stefan; Batkovskyte, Dominyka; Baynam, Gareth; Bodamer, Olaf; Chetruengchai, Wanna; Corcoran, Pádraic; Couse, Madeline; Danis, Daniel; Demidov, German; Dohi, Eisuke; Erhardsson, Mattias; Fernandez-Luna, Luis; Fujiwara, Toyofumi; Garg, Neha; Giugliani, Roberto; Gonzaga-Jauregui, Claudia; Grigelioniene, Giedre; Groza, Tudor; Gunnarsson, Cecilia; Hammarsjö, Anna; Hammond, Charles Kumi; Hatirnaz Ng, Özden; Hesketh, Sirisha; Hettiarachchi, Dineshani; Johansson Soller, Maria; Kirmani, Umn Ahmed; Kjellberg, Martin; Kvarnung, Malin; Kvlividze, Oleg; Lagerstedt-Robinson, Kristina; Lasko, Paul; Lassmann, Timo; Lau, Lynette Y S; Laurie, Steven; Lim, Weng Khong; Liu, Zhandong; Lysenkova Wiklander, Mariya; Makay, Prince; Maiga, Alassane Baneye; Maya-González, Carolina; Meyn, M Stephen; Neethiraj, Ramprasad; Nigro, Vincenzo; Nordgren, Felix; Nordlund, Jessica; Orrsjö, Sara; Ottosson, Jesper; Ozbek, Ugur; Özdemir, Özkan; Partin, Clyde; Pearce, David A; Peck, Raquel; Pedersen, Annie; Pettersson, Maria; Pongpanich, Monnat; Posada de la Paz, Manuel; Ramani, Arun; Romero, Juan Andres; Romero, Vanessa I; Rosenquist, Richard; Saw, Aung Min; Spencer, Matthew; Stattin, Eva-Lena; Srichomthong, Chalurmpon; Tapia-Paez, Isabel; Taruscio, Domenica; Taylor, Julie P; Tkemaladze, Tinatin; Tully, Ian; Tümer, Zeynep; van Zelst-Stams, Wendy A G; Verloes, Alain; Västerviga, Emma; Wang, Sailan; Yang, Rachel; Yamamoto, Shinya; Yépez, Vicente A; Zhang, Qing; Shotelersuk, Vorasuk; Wiafe, Samuel Agyei; Alanay, Yasemin; Botto, Lorenzo D; Kirmani, Salman; Lumaka, Aimé; Palmer, Elizabeth Emma; Puri, Ratna Dua; Wirta, Valtteri; Lindstrand, Anna; Buske, Orion J; Cederroth, Mikk; Nordgren, Ann

Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant

两例新的肢端中段发育不良患者,PRKG2 基因型鉴定及首个错义变异的特征分析

Akgun-Dogan, Ozlem; Díaz-González, Francisca; de Lima Jorge, Alexander Augusto; Onenli-Mungan, Neslihan; Menezes Andrade, Nathalia Liberatoscioli; de Polli Cellin, Laurana; Ceylaner, Serdar; Barcellos Rosa Modkovski, Maria; Alanay, Yasemin; Heath, Karen E

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

深度表型分析的影响:通过单中心临床全基因组测序,在172例不同儿科患者群体中实现了高诊断率

Akgun-Dogan, Ozlem; Tuc Bengur, Ecenur; Ay, Beril; Ozkose, Gulsah Sebnem; Kar, Emre; Bengur, Fuat Baris; Bulut, Aybike S; Yigit, Ayca; Aydin, Eylul; Esen, Fatma Nisa; Ozdemir, Ozkan; Yesilyurt, Ahmet; Alanay, Yasemin