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论文共 11 篇作者统计合作学者相似作者

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Generation of Induced Pluripotent Stem Cell Line (Ucsfi001-a-77) Carrying a Biallelic Frameshift Variant in Exon 4 of SGIP1 Through CRISPR/Cas9

Neelam Fatima, Lieke Dillen,Marina P. Hommersom,Ece Cepni,Fareeha Fatima,Ellen van Beusekom,Silvia Albert,Asma Ali Khan,Arjan P. M. de Brouwer, Hans van Bokhoven

STEM CELL RESEARCH (2024)

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Comprehensive Genetic Testing in a Cohort of 67 Unrelated Retinal Dystrophy Patients of Turkish and Eastern European Descent

Ece Cepni, Umut Altunoglu, Esra Borklu, Serra Arf,Sahin Avci, Isil Sayman Muslubas,Mumin Hocaoglu,Murat Hasanreisoglu, Murat Karacorlu, Hulya Kayserili

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 380-380

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Generation of Induced Pluripotent Stem Cell Lines from Two Unrelated Patients Affected by Intellectual Disability Carrying Homozygous Variants in SGIP1

Lieke Dillen,Neelam Fatima,Marina P. Hommersom,Ece Cepni,Fareeha Fatima,Ellen van Beusekom,Silvia Albert,Johanna M. van Hagen,Bert B. A. de Vries,Asma Ali Khan,Arjan P. M. de Brouwer,Hans van Bokhoven

STEM CELL RESEARCH (2024)

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Revisiting TOP2B-related phenotypes: Three new cases and literature review

Ece Çepni,Esra Börklü,Şahin Avcı,Tuğba Kalaycı,Serpil Eraslan,Hülya Kayserili

Clinical geneticsno. 2 (2023): 251-258

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Revisiting TOP2B-Related Phenotypes: Turkish family with Three Affecteds in Two Generations

Ece Cepni,Esra Yucel,Sahin Avci,N. Bilge Satkin,Hulya Kayserili

EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 244-245

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Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings

Ece Çepni,Nihan Bilge Satkın, Lia Abbasi Moheb,Maria Eugenia Rocha,Hülya Kayserili

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）

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New case of Dyskeratosis congenita 4 mimicking Hoyeraal-Hreidarsson syndrome with novel TERT gene mutation

Ece Cepni,Sahin Avci,N. Bilge Satkin,Hulya Kayserili

EUROPEAN JOURNAL OF HUMAN GENETICS（2022）

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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy (vol 108, pg 1301, 2021)

Hui Hui Wong,Sze Hwee Seet,Michael Maier,Ayse Gurel,Ricardo Moreno Traspas,Cheryl Lee,Shan Zhang,Beril Talim,Abigail Y. T. Loh,Crystal Y. Chia,Tze Shin Teoh,Danielle Sng,Jarred Rensvold,Sule Unal,Evgenia Shishkova,Ece Cepni,Fatima M. Nathan,Fernanda L. Sirota,Chao Liang,Nese Yarali,Pelin O. Simsek-Kiper,Tadahiro Mitani,Serdar Ceylaner,Ozlem Arman-Bilir,Hamdi Mbarek,Fatma Gumruk,Stephanie Efthymiou,Deniz Ugurlu Cimen,Danai Georgiadou,Kortessa Sotiropoulou,Henry Houlden,Franziska Paul,Davut Pehlivan,Candice Laine,Guoliang Chai,Nur Ain Ali,Siew Chin Choo, Soh Sok Keng,Bertrand Boisson,Elanur Yilmaz,Shifeng Xue,Joshua J. Coon,Thanh Thao Nguyen Ly,Naser Gilani,Dana Hasbini,Hulya Kayserili,Maha S. Zaki,Robert J. Isfort,Natalia Ordonez,Kornelia Tripolszki,Peter Bauer,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C. Bascom,Reza Maroofian,Myriam Chaabouni,Afaf Alsubhi,Wafaa Eyaid, Sedat Is Comma Ikay,Joseph G. Gleeson,James R. Lupski,Jean-Laurent Casanova,David J. Pagliarini,Nurten A. Akarsu,Sebastian Maurer-Stroh,Arda Cetinkaya,Aida Bertoli-Avella,Ajay S. Mathuru,Lena Ho,Frederic A. Bard,Bruno Reversade

AMERICAN JOURNAL OF HUMAN GENETICSno. 7 (2021): 1356-1356

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Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv (2021)

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Loss of C2orf69 Defines a Fatal Autoinflammatory Syndrome in Humans and Zebrafish That Evokes a Glycogen-Storage-associated Mitochondriopathy

Hui,Sze Hwee Seet,Michael Maier,Ayse Gurel,Ricardo Moreno Traspas,Cheryl Lee,Shan Zhang,Beril Talim,Abigail Y. T. Loh,Crystal Y. Chia,Tze Shin Teoh,Danielle Sng,Jarred Rensvold,Sule Unal,Evgenia Shishkova,Ece Cepni,Fatima M. Nathan,Fernanda L. Sirota,Chao Liang,Nese Yarali,Pelin O. Simsek-Kiper,Tadahiro Mitani,Serdar Ceylaner,Ozlem Arman-Bilir,Hamdi Mbarek,Fatma Gumruk,Stephanie Efthymiou,Deniz Ugurlu Cimen,Danai Georgiadou,Kortessa Sotiropoulou,Henry Houlden,Franziska Paul,Davut Pehlivan,Candice Laine,Guoliang Chai,Nur Ain Ali,Siew Chin Choo, Soh Sok Keng,Bertrand Boisson,Elanur Yilmaz,Shifeng Xue,Joshua J. Coon,Thanh Thao Nguyen Ly,Naser Gilani,Dana Hasbini,Hulya Kayserili,Maha S. Zaki,Robert J. Isfort,Natalia Ordonez,Kornelia Tripolszki,Peter Bauer,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C. Bascom,Reza Maroofian,Myriam Chaabouni,Afaf Alsubhi,Wafaa Eyaid,Sedat Isikay,Joseph G. Gleeson,James R. Lupski,Jean-Laurent Casanova,David J. Pagliarini,Nurten A. Akarsu,Sebastian Maurer-Stroh,Arda Cetinkaya,Aida Bertoli-Avella,Ajay S. Mathuru,Lena Ho,Frederic A. Bard,Bruno Reversade

The American Journal of Human Genetics（2021）

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