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

A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing

RNA/SI-NET 测序揭示了由 TAPT1 深内含子变异引起的早衰综合征

Nasrinsadat Nabavizadeh #, Annkatrin Bressin #, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova,

A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects

用于模拟基因和药物诱导的神经发育缺陷的微模式人类特异性神经上皮组织

Geetika Sahni, Shu-Yung Chang, Jeremy Teo Choon Meng, Jerome Zu Yao Tan, Jean Jacques Clement Fatien, Carine Bonnard, Kagistia Hana Utami, Puck Wee Chan, Thong Teck Tan, Umut Altunoglu, Hülya Kayserili, Mahmoud Pouladi, Bruno Reversade, Yi-Chin Toh

Loss of PYCR2 Causes Neurodegeneration by Increasing Cerebral Glycine Levels via SHMT2

PYCR2 缺失通过 SHMT2 增加脑甘氨酸水平,导致神经退行性病变

Nathalie Escande-Beillard, Abigail Loh, Sahar N Saleem, Kohei Kanata, Yui Hashimoto, Umut Altunoglu, Artina Metoska, Joanes Grandjean, Fui Mee Ng, Oz Pomp, Nithya Baburajendran, Joyner Wong, Jeffrey Hill, Emmanuel Beillard, Patrick Cozzone, Maha Zaki, Hülya Kayserili, Hiroshi Hamada, Hidetaka Shirat

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

人类的 NUAK2 功能丧失突变会因 Hippo-YAP 信号传导受损而导致无脑畸形

Carine Bonnard, Naveenan Navaratnam, Kakaly Ghosh, Puck Wee Chan, Thong Teck Tan, Oz Pomp, Alvin Yu Jin Ng, Sumanty Tohari, Rishita Changede, David Carling, Byrappa Venkatesh, Umut Altunoglu, Hülya Kayserili, Bruno Reversade

MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive c erebellar, o cular, cranio f acial and g enital features (COFG syndrome)

MAB21L1 功能丧失导致综合征性神经发育障碍,具有独特的小脑、眼部、颅面和生殖器特征(COFG 综合征)

Abolfazl Rad #, Umut Altunoglu #, Rebecca Miller #, Reza Maroofian #, Kiely N James, Ahmet Okay Çağlayan, Maryam Najafi, Valentina Stanley, Rose-Mary Boustany, Gözde Yeşil, Afsaneh Sahebzamani, Gülhan Ercan-Sencicek, Kolsoum Saeidi, Kaman Wu, Peter Bauer, Zeineb Bakey, Joseph G Gleeson, Natalie Haus

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

PLXND1 和 REV3L 的新生突变导致莫比乌斯综合征

Laura Tomas-Roca, Anastasia Tsaalbi-Shtylik, Jacob G Jansen, Manvendra K Singh, Jonathan A Epstein, Umut Altunoglu, Harriette Verzijl, Laura Soria, Ellen van Beusekom, Tony Roscioli, Zafar Iqbal, Christian Gilissen, Alexander Hoischen, Arjan P M de Brouwer, Corrie Erasmus, Dirk Schubert, Han Brunner

Mutations in CDK5RAP2 cause Seckel syndrome

CDK5RAP2 突变导致 Seckel 综合征

Gökhan Yigit, Karen E Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoglu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian Thomas Thiel, Bernd Wollnik

Mutations in WNT1 cause different forms of bone fragility

WNT1 基因突变可导致不同形式的骨质脆弱

Katharina Keupp, Filippo Beleggia, Hülya Kayserili, Aileen M Barnes, Magdalena Steiner, Oliver Semler, Björn Fischer, Gökhan Yigit, Claudia Y Janda, Jutta Becker, Stefan Breer, Umut Altunoglu, Johannes Grünhagen, Peter Krawitz, Jochen Hecht, Thorsten Schinke, Elena Makareeva, Ekkehart Lausch, Tufan