Hülya Kayserili (Hulya Kayserili, Hϋlya Kayserili)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 16

Top Venues

American journal of medical genetics. Part A

Nature communications

Clinical genetics

Nature genetics

Koç Üniversitesi

Istanbul Üniversitesi Health Sciences (PHD)

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

Affiliation History

Koç Üniversitesi Feb 23o 2015

Turkey

Department Head :: School of Medicine, Medical Genetics

Education History

Istanbul Üniversitesi Health Sciences - Mar 16o 1998

Turkey

PHD :: Genetics

Publications

Ece Çepni, Esra Börklü, Sahin Avci, Tuğba Kalaycı, Serpil Eraslan, Hülya Kayserili
Revisiting TOP2B-related phenotypes: Three new cases and literature review. Clinical genetics (2023)
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat-Yi Tan, Hane Lee, Zainab Aziz, Stanley F Nelson, Engin Özkan, Hülya Kayserili, Nathalie Escande-Beillard, Bruno Reversade
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis. EMBO molecular medicine (2023)
Esin Karakılıc Ozturan, Umut Altunoglu, Ayse Pinar Ozturk, Asli Derya Kardelen Al, Zehra Yavaş Abalı, Sahin Avci, Bernd Wollnik, Şükran Poyrazoğlu, Firdevs Baş, Zehra Oya Uyguner, Hülya Kayserili, Feyza Darendelıler
Evaluation of growth, puberty, osteoporosis, and the response to long-term bisphosphonate therapy in four patients with osteoporosis-pseudoglioma syndrome. American journal of medical genetics. Part A 188 (7) (2022)
Tuğba Kalaycı, Umut Altunoglu, Aytul Çorbacioglu Esmer, Sahin Avci, Tugba Sarac Sivrikoz, Birsen Karaman, İbrahim Kalelioğlu, Recep Has, Zehra Oya Uyguner, Atıl Yüksel, Seher Başaran, Hülya Kayserili
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey. American journal of medical genetics. Part A (2022)
Gozde Tutku Turgut, Umut Altunoglu, Tugba Sarac Sivrikoz, Guven Toksoy, Tuğba Kalaycı, Şahin Avcı, Birsen Karaman, Cagri Gulec, Seher Başaran, Gözde Yeşil Sayın, Hülya Kayserili, Zehra Oya Uyguner
Functional loss of ubiquitin-specific protease 14 may lead to a novel distal arthrogryposis phenotype. Clinical genetics 101 (4) (2022)
Cassandra R Harapas, Kim Samirah Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Rass-Rothschild, Bertrand Boisson, Scott B Drutman, Pawat Laohamonthonkul, Devon Bonner, Jingwei Rachel Xiong, Mark D Gorrell, Sophia Davidson, Chien-Hsiung Yu, Mark D Fleming, Jonas Gudera, Jerry Stein, Miriam Ben-Harosh, Emily Groopman, Akiko Shimamura, Hannah Tamary, Hülya Kayserili, Nevin Hatipoglu, Jean Laurent Casanova, Jonathan A Bernstein, Franklin Lei Zhong, Seth L Masters, Bruno Reversade
DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling. Science immunology 7 (75) (2022)
Ricardo Moreno Traspas, Tze Shin Teoh, Pui-Mun Wong, Michael Maier, Crystal Y Chia, Kenneth Lay, Nur Ain Ali, Austin Larson, Fuad Al Mutairi, Nouriya Abbas Al-Sannaa, Eissa Ali Faqeih, Majid Alfadhel, Huma Arshad Cheema, Juliette Dupont, Stéphane Bézieau, Bertrand Isidor, Dorrain Yanwen Low, Yulan Wang, Grace Tan, Poh San Lai, Hugues Piloquet, Madeleine Joubert, Hülya Kayserili, Kimberly A Kripps, Shareef A Nahas, Eric P Wartchow, Mikako Warren, Gandham SriLakshmi Bhavani, Majed Dasouki, Renata Sandoval, Elisa Carvalho, Luiza Ramos, Gilda Porta, Bin Wu, Harsha Prasada Lashkari, Badr AlSaleem, Raeda M BaAbbad, Anabela Natália Abreu Ferrão, Vasiliki Karageorgou, Natalia Ordonez-Herrera, Suliman Khan, Peter Bauer, Benjamin Cogné, Aida Maria Bertoli-Avella, Marie Vincent, Katta Mohan Girisha, Bruno Reversade
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis. Nature genetics 54 (8) (2022)
Umut Altunoglu, Esra Börklü, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hülya Azaklı, Shalini S Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hülya Kayserili
Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis. Clinical genetics (2021)
Ece Çepni, Nihan Bilge Satkın, Lia Abbasi Moheb, Maria Eugenia Rocha, Hülya Kayserili
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings. American journal of medical genetics. Part A (2021)
Yulia Kargapolova, Rizwan Rehimi, Hülya Kayserili, Joanna Brühl, Konstantinos Sofiadis, Anne Zirkel, Spiros Palikyras, Athanasia Mizi, Yun Li, Gökhan Yigit, Alexander Hoischen, Stefan Frank, Nicole Russ, Jonathan Trautwein, Bregje van Bon, Christian Gilissen, Magdalena Laugsch, Eduardo Gade Gusmao, Natasa Josipovic, Janine Altmüller, Peter Nürnberg, Gernot Längst, Frank J Kaiser, Erwan Watrin, Han Brunner, Álvaro Rada-Iglesias, Leo Kurian, Bernd Wollnik, Karim Bouazoune, Argyris Papantonis
Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology. Nature communications 12 (1) (2021)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Author Correction: Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Esra Börklü-Yücel, Çiğdem Demiriz, Şahin Avcı, Ebru Nur Vanlı-Yavuz, Serpil Eraslan, Piraye Oflazer, Hülya Kayserili
Clinical exome sequencing in neuromuscular diseases: an experience from Turkey. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 41 (8) (2020)
Felix Kunz, Hülya Kayserili, Alina T Midro, Deepthi de Silva, Sriyani Basnayake, Yeliz Güven, Jan Borys, Denny Schanze, Angelika Stellzig-Eisenhauer, Agnes Bloch-Zupan, Martin Zenker
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome. American journal of medical genetics. Part A 182 (7) (2020)
Sahar Elouej, Karim Harhouri, Morgane Le Mao, Genevieve Baujat, Sheela Nampoothiri, Hülya Kayserili, Nihal Al Menabawy, Laila Selim, Arianne Llamos Paneque, Christian Kubisch, Davor Lessel, Robert Rubinsztajn, Chayki Charar, Catherine Bartoli, Coraline Airault, Jean François Deleuze, Agnes Rotig, Peter Bauer, Catarina Pereira, Abigail Loh, Nathalie Escande-Beillard, Antoine Muchir, Lisa Martino, Yosef Gruenbaum, Song-Hua Lee, Philippe Manivet, Guy Lenaers, Bruno Reversade, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology. Nature communications 11 (1) (2020)
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Mirna Assoum, Yannis Duffourd, Alice Masurel, Geneviève Baujat, Bettina Bessieres, Guillaume Captier, Patrick Edery, Nursel H Elçioğlu, David Geneviève, Alice Goldenberg, Delphine Héron, Sarah Grotto, Sandrine Marlin, Audrey Putoux, Massimiliano Rossi, Pascale Saugier-Veber, Stéphane Triau, Christelle Cabrol, Myriam Vézain, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Julien Thevenon, Pierre Vabres, Patrick Callier, Hülya Kayserili, Laurence Olivier-Faivre
The oculoauriculofrontonasal syndrome: Further clinical characterization and additional evidence suggesting a nontraditional mode of inheritance. American journal of medical genetics. Part A 176 (12) (2018)
Hülya Azakli, Ayse Deniz Akkaya, Murat Serhat Aygün, Cüyan Demirkesen, Serpil Eraslan, Hülya Kayserili
Terminal osseous dysplasia with pigmentary defects (TODPD) in a Turkish girl with new skin findings. American journal of medical genetics. Part A 179 (1) (2018)

Hülya Kayserili.css-eqlu8i{font-size:small;padding-left:4px;} (Hulya Kayserili, Hϋlya Kayserili)

Publication Activity (10 Years)

Top Topics

Top Venues

Hülya Kayserili (Hulya Kayserili, Hϋlya Kayserili)