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

Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformation

新型PCDH12致病性错义变异导致神经发育障碍和眼部畸形

Rakotomamonjy, Jennifer; Fares-Taie, Lucas; Kumar, Raman; Gebert, Cole; Magaña-Hernandez, Laura; Blaszkiewicz, Anna; Benson, Theresa; Fairbanks-Santana, Martín; Trejo, Angela; Rogers, R Curtis; Mayer, Claudine; Chennen, Kirsley; Poch, Olivier; Bardakjian, Tanya M; Tropea, Thomas F; Gonzalez-Alegre, Pedro; Carvill, Gemma L; Zhang, Jamie; Agarwala, Shreya; Jolly, Lachlan A; Van Bergen, Nicole J; Balasubramaniam, Shanti; Ellaway, Carolyn J; Christodoulou, John; Gecz, Jozef; Rozet, Jean-Michel; Guemez-Gamboa, Alicia

Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis

血液系统恶性肿瘤易感基因DDX41的双等位基因种系变异通过扰乱视网膜稳态导致视网膜营养不良。

Mars, Zoéline; Zanetti, Andrea; Kaminska, Karolina; Miyagawa, Takero; Liu, Duanya; Antonio, Aline; Arno, Gavin; Audo, Isabelle; Ayuso, Carmen; Muhammad Jafar Hussain, Hafiz; Bao, Xuan; Barberán-Martínez, Pilar; Bocquet, Béatrice; Boguszewska-Chachulska, Anna; Condroyer, Christel; David, Pierre; Dollfus, Hélène; Fares-Taie, Lucas; Fernández-Caballero, Lidia; García-García, Gema; Michel, Victor; Guerrera, Chiara Ida; Jung, Vincent; Kessel, Line; Gioja, Louise; Lin, Siying; Matczynska, Ewa; Millán, Jose M; Moye, Abigail R; Martín-Gutiérrez, M Pilar; Quinodoz, Mathieu; Robert, Matthieu P; Roger, Jerome E; Sousa-Luis, Rui; Swafiri, Saoud Tahsin; Teper, Slawomir; Meunier, Isabelle; Patat, Olivier; Pennesi, Mark E; Wadt, Karin A W; Wang, Meng; Webster, Andrew R; Yang, Paul; Yumei, Li; Zeitz, Christina; Rieux-Laucat, Frederic; Giraudier, Stéphane; Chen, Rui; Fica, Sebastian M; Rivolta, Carlo; Sebert, Marie; Rozet, Jean-Michel; Perrault, Isabelle

Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.

通过对驱动复杂性小眼畸形的调控变异的研究,深入了解 FOXE3 转录网络和疾病机制

Plaisancié Julie, Angée Clémentine, Erjavec Elisa, Raymond-Letron Isabelle, Douet Jean-Yves, Goetz Mathilde, Vincent-Delorme Catherine, Karemaker Ino D, Baltissen Marijke, Vermeulen Michiel, Valdivia Leonardo, Jabot-Hanin Fabienne, David Pierre, Hadjadj Djihad, Monsef Yanad Abou, Lyazrhi Faouzi, Calvas Patrick, Rozet Jean-Michel, Chassaing Nicolas, Fares-Taie Lucas

Emotion regulation among bariatric seeking patients with obesity and food addiction: a cross-sectional, unmatched nested case-control comparison

肥胖和食物成瘾患者寻求减肥手术时的情绪调节:一项横断面、非匹配嵌套病例对照研究

Madieta, Lou; Scocard, Amandine; Rozet, Marine; De Luca, Arnaud; Kazour, François; Barrault, Servane; Ballon, Nicolas; Gohier, Bénédicte; Brunault, Paul

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

纤毛病患者的变异揭示了TUBB4B在轴丝微管中的细胞器特异性功能

Daniel O Dodd # ,Sabrina Mechaussier # ,Patricia L Yeyati ,Fraser McPhie ,Jacob R Anderson ,Chen Jing Khoo ,Amelia Shoemark ,Deepesh K Gupta ,Thomas Attard ,Maimoona A Zariwala ,Marie Legendre ,Diana Bracht ,Julia Wallmeier ,Miao Gui ,Mahmoud R Fassad ,David A Parry ,Peter A Tennant ,Alison Meynert ,Gabrielle Wheway ,Lucas Fares-Taie ,Holly A Black ,Rana Mitri-Frangieh ,Catherine Faucon ,Josseline Kaplan ,Mitali Patel ,Lisa McKie ,Roly Megaw ,Christos Gatsogiannis ,Mai A Mohamed ,Stuart Aitken ,Philippe Gautier ,Finn R Reinholt ,Robert A Hirst ,Chris O'Callaghan ,Ketil Heimdal ,Mathieu Bottier ,Estelle Escudier ,Suzanne Crowley ,Maria Descartes ,Ethylin W Jabs ,Priti Kenia ,Jeanne Amiel ,Giacomo Maria Bacci ,Claudia Calogero ,Viviana Palazzo ,Lucia Tiberi ,Ulrike Blümlein ,Andrew Rogers ,Jennifer A Wambach ,Daniel J Wegner ,Anne B Fulton ,Margaret Kenna ,Margaret Rosenfeld ,Ingrid A Holm ,Alan Quigley ,Emma A Hall ,Laura C Murphy ,Diane M Cassidy ,Alex von Kriegsheim ,Laurent Pasquier ,Marlène S Murris ,James D Chalmers ,Claire Hogg ,Kenneth A Macleod ,Don S Urquhart ,Stefan Unger ,Timothy J Aitman ,Serge Amselem ,Margaret W Leigh ,Michael R Knowles ,Heymut Omran ,Hannah M Mitchison ,Alan Brown ,Joseph A Marsh ,Julie P I Welburn ,Shih-Chieh Ti ,Amjad Horani ,Jean-Michel Rozet ,Isabelle Perrault ,Pleasantine Mill

Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.

小鼠先天性小角膜缺失将 Sox21 失调与疾病联系起来,并表明 TGFB2 在青光眼和近视中发挥作用

Erjavec Elisa, Angée Clémentine, Hadjadj Djihad, Passet Bruno, David Pierre, Kostic Corinne, Dodé Emmanuel, Zanlonghi Xavier, Cagnard Nicolas, Nedelec Brigitte, Crippa Sylvain V, Bole-Feysot Christine, Zarhrate Mohammed, Creuzet Sophie, Castille Johan, Vilotte Jean-Luc, Calvas Patrick, Plaisancié Julie, Chassaing Nicolas, Kaplan Josseline, Rozet Jean-Michel, Fares Taie L

Genetic susceptibility to optic neuropathy in patients with alcohol use disorder

酒精使用障碍患者视神经病变的遗传易感性

Delibes, Camille; Ferré, Marc; Rozet, Marine; Desquiret-Dumas, Valérie; Descatha, Alexis; Gohier, Bénédicte; Gohier, Philippe; Amati-Bonneau, Patrizia; Milea, Dan; Reynier, Pascal

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies

复杂罕见病诊断中问题的客观化:从现有纤毛病诊断支持系统测试中汲取的经验教训

Faviez, Carole; Chen, Xiaoyi; Garcelon, Nicolas; Zaidan, Mohamad; Billot, Katy; Petzold, Friederike; Faour, Hassan; Douillet, Maxime; Rozet, Jean-Michel; Cormier-Daire, Valérie; Attié-Bitach, Tania; Lyonnet, Stanislas; Saunier, Sophie; Burgun, Anita

Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humans

人类 frizzled 类受体 5 的低效突变纯合子会导致综合征性眼部缺损伴小角膜

Cortés-González, Vianney; Rodriguez-Morales, Miguel; Ataliotis, Paris; Mayer, Claudine; Plaisancié, Julie; Chassaing, Nicolas; Lee, Hane; Rozet, Jean-Michel; Cavodeassi, Florencia; Fares Taie, Lucas

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atrophy

遗传性视神经萎缩中的常染色体隐性致病性MSTO1变异

Gerber, Sylvie; Lessard, Lola; Rouzier, Cécile; Ait-El-Mkadem Saadi, Samira; Ameli, Roxana; Thobois, Stéphane; Abouaf, Lucie; Bouhour, Françoise; Kaplan, Josseline; Putoux, Audrey; Pegat, Antoine; Rozet, Jean-Michel