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

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Functional analysis of germline VANGL2 variants using rescue assays of vangl2 knockout zebrafish

使用 vangl2 敲除斑马鱼的拯救试验对种系 VANGL2 变体进行功能分析

Christopher J Derrick, Emmanuelle Szenker-Ravi, Adrian Santos-Ledo, Ahlam Alqahtani, Amirah Yusof, Lorraine Eley, Alistair H L Coleman, Sumanty Tohari, Alvin Yu-Jin Ng, Byrappa Venkatesh, Essa Alharby, Luke Mansard, Marie-Noelle Bonnet-Dupeyron, Anne-Francoise Roux, Christel Vaché, Joëlle Roume, Pat

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

一名患者因多纤毛运动减少而继发支气管扩张,该患者携带新型细胞周期蛋白O致病变异。

Yap, Kim Hoong; Lim, Albert Yick Hou; Thomas, Biju; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Chong, Yan Ling; Roy, Sudipto; Reversade, Bruno

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,

R-SPONDIN2+ mesenchymal cells form the bud tip progenitor niche during human lung development

R-SPONDIN2+ 间充质细胞在人类肺发育过程中形成芽尖祖细胞微环境

Renee F C Hein, Joshua H Wu, Emily M Holloway, Tristan Frum, Ansley S Conchola, Yu-Hwai Tsai, Angeline Wu, Alexis S Fine, Alyssa J Miller, Emmanuelle Szenker-Ravi, Kelley S Yan, Calvin J Kuo, Ian Glass, Bruno Reversade, Jason R Spence

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

由Wnt分泌缺陷引起的人类多器官多效性疾病

Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B P; Pitanga, Paula M L; Puri, Ratna D; Hernan, Rebecca; Chung, Wendy K; Bertoli-Avella, Aida M; Al-Sannaa, Nouriya; Zaki, Maha S; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

UDP-葡萄糖6-脱氢酶功能缺失突变会导致隐性遗传性发育性癫痫性脑病

Holger Hengel # ,Célia Bosso-Lefèvre # ,George Grady ,Emmanuelle Szenker-Ravi ,Hankun Li ,Sarah Pierce ,Élise Lebigot ,Thong-Teck Tan ,Michelle Y Eio ,Gunaseelan Narayanan ,Kagistia Hana Utami ,Monica Yau ,Nader Handal ,Werner Deigendesch ,Reinhard Keimer ,Hiyam M Marzouqa ,Meral Gunay-Aygun ,Michael J Muriello ,Helene Verhelst ,Sarah Weckhuysen ,Sonal Mahida ,Sakkubai Naidu ,Terrence G Thomas ,Jiin Ying Lim ,Ee Shien Tan ,Damien Haye ,Michèl A A P Willemsen ,Renske Oegema ,Wendy G Mitchell ,Tyler Mark Pierson ,Marisa V Andrews ,Marcia C Willing ,Lance H Rodan ,Tahsin Stefan Barakat ,Marjon van Slegtenhorst ,Ralitza H Gavrilova ,Diego Martinelli ,Tal Gilboa ,Abdullah M Tamim ,Mais O Hashem ,Moeenaldeen D AlSayed ,Maha M Abdulrahim ,Mohammed Al-Owain ,Ali Awaji ,Adel A H Mahmoud ,Eissa A Faqeih ,Ali Al Asmari ,Sulwan M Algain ,Lamyaa A Jad ,Hesham M Aldhalaan ,Ingo Helbig ,David A Koolen ,Angelika Riess ,Ingeborg Kraegeloh-Mann ,Peter Bauer ,Suleyman Gulsuner ,Hannah Stamberger ,Alvin Yu Jin Ng ,Sha Tang ,Sumanty Tohari ,Boris Keren ,Laura E Schultz-Rogers ,Eric W Klee ,Sabina Barresi ,Marco Tartaglia ,Hagar Mor-Shaked ,Sateesh Maddirevula ,Amber Begtrup ,Aida Telegrafi ,Rolph Pfundt ,Rebecca Schüle ,Brian Ciruna ,Carine Bonnard ,Mahmoud A Pouladi ,James C Stewart ,Adam Claridge-Chang ,Dirk J Lefeber ,Fowzan S Alkuraya ,Ajay S Mathuru ,Byrappa Venkatesh ,Joseph J Barycki ,Melanie A Simpson ,Saumya S Jamuar ,Ludger Schöls ,Bruno Reversade

R-spondin signalling is essential for the maintenance and differentiation of mouse nephron progenitors

R-spondin信号传导对于小鼠肾单位祖细胞的维持和分化至关重要。

Vidal, Valerie Pi; Jian-Motamedi, Fariba; Rekima, Samah; Gregoire, Elodie P; Szenker-Ravi, Emmanuelle; Leushacke, Marc; Reversade, Bruno; Chaboissier, Marie-Christine; Schedl, Andreas

Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia

纯合无效 TBX4 突变导致后肢畸形,伴有骨盆和肺发育不全

Ariana Kariminejad, Emmanuelle Szenker-Ravi, Caroline Lekszas, Homa Tajsharghi, Ali-Reza Moslemi, Thomas Naert, Hong Thi Tran, Fatemeh Ahangari, Minoo Rajaei, Mojila Nasseri, Thomas Haaf, Afrooz Azad, Andrea Superti-Furga, Reza Maroofian, Siavash Ghaderi-Sohi, Hossein Najmabadi, Mohammad Reza Abbasz