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

Genetic variants in ESRRG are associated with a dominant non-progressive congenital movement disorder with ataxia

ESRRG基因变异与一种显性遗传的非进行性先天性运动障碍伴共济失调有关。

Bresack, Brandon; Kohl, Laura Renée; Afenjar, Alexandra; Audic, Frédérique; Burglen, Lydie; Charles, Perrine; Dundar, Nihal Olgac; van de Kamp, Jiddeke; Machol, Keren; Magoulas, Pilar; Goze-Martineau, Odile; Motazacker, Mahdi; Philippi, Heike; Reyes, Alejandra; Tutakhel, Omar A Z; Bertoli-Avella, Aida; Sticht, Heinrich; Abou Jamra, Rami; Oppermann, Henry

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder

GPKOW基因C端移码变异与一种多系统性X连锁疾病相关。

Mok, Jung-Wan; Mackay, Laura; Blazo, Maria; Mizerik, Elizabeth; Gecz, Jozef; Carroll, Renee; Nizon, Mathilde; Rondeau, Sophie; Joubert, Madeleine; Cuinat, Silvestre; Deb, Wallid; Valle Sirias, Fernanda; Weisz-Hubshman, Monika; Ketkar, Shamika; Polak, Urszula; Tran, Alyssa A; Kearney, Debra; Hanchard, Neil A; Kanca, Oguz; Wangler, Michael F; Bellen, Hugo J; Lee, Brendan H; Yamamoto, Shinya; Machol, Keren

Bi-allelic variants in CEP295 cause Seckel-like syndrome presenting with primary microcephaly, developmental delay, intellectual disability, short stature, craniofacial and digital abnormalities

CEP295基因的双等位基因变异会导致类似塞克尔综合征的症状,包括原发性小头畸形、发育迟缓、智力障碍、身材矮小、颅面畸形和手指畸形。

Niu Li,Yufei Xu,Hongzhu Chen,Jingqi Lin,Lama AlAbdi,Mir Reza Bekheirnia,Guoqiang Li,Yoel Gofin,Nasim Bekheirnia,Eissa Faqeih,Lina Chen,Guoying Chang,Jie Tang,Ruen Yao,Tingting Yu,Xiumin Wang,Wei Fu,Qihua Fu,Yiping Shen,Fowzan S Alkuraya,Keren Machol,Jian Wang

The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing

人源细胞转分化结合RNA测序的临床应用及诊断实施

Shenglan Li,Sen Zhao,Jefferson C Sinson,Aleksandar Bajic,Jill A Rosenfeld,Matthew B Neeley,Mezthly Pena,Kim C Worley,Lindsay C Burrage,Monika Weisz-Hubshman,Shamika Ketkar,William J Craigen,Gary D Clark,Seema Lalani,Carlos A Bacino,Keren Machol,Hsiao-Tuan Chao,Lorraine Potocki,Lisa Emrick,Jennifer Sheppard,My T T Nguyen,Anahita Khoramnia,Paula Patricia Hernandez,Sandesh Cs Nagamani,Zhandong Liu

Family Lore, a Variant of Uncertain Significance, and CADASIL

《家族传说》、《意义不明的变体》和 CADASIL

Duarte, Rhys; Vossaert, Liesbeth; Darilek, Sandra A; Rose, Chelsi; Schauer, Evan; Parobek, Christian; Bland, Emily; Machol, Keren; Mizerik, Elizabeth; Murali, Chaya N

GOES-R Series X-Ray Sensor (XRS): 1. Design and Pre-Flight Calibration

GOES-R系列X射线传感器(XRS):1. 设计和飞行前校准

Woods, Thomas N; Eden, Thomas; Eparvier, Francis G; Jones, Andrew R; Woodraska, Donald L; Chamberlin, Phillip C; Machol, Janet L

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

RARS2相关线粒体疾病的扩展临床表型和非靶向代谢组学分析:病例报告

Walimbe, Ameya S; Machol, Keren; Kralik, Stephen F; Mizerik, Elizabeth A; Gofin, Yoel; Bekheirnia, Mir Reza; Gijavanekar, Charul; Elsea, Sarah H; Emrick, Lisa T; Scaglia, Fernando

Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report

新生儿短暂性全身性骨硬化症,临床表现酷似先天性骨硬化症,但全面基因检测结果为阴性:病例报告

Hauck, Jeffrey; Gerard, Amanda; Crowe, James E; Martinez, Caridad A; Machol, Keren

FOXI3 pathogenic variants cause one form of craniofacial microsomia

FOXI3致病变异会导致一种颅面短小症。

Ke Mao # ,Christelle Borel # ,Muhammad Ansar # ,Angad Jolly ,Periklis Makrythanasis ,Christine Froehlich ,Justyna Iwaszkiewicz ,Bingqing Wang ,Xiaopeng Xu ,Qiang Li ,Xavier Blanc ,Hao Zhu ,Qi Chen ,Fujun Jin ,Harinarayana Ankamreddy ,Sunita Singh ,Hongyuan Zhang ,Xiaogang Wang ,Peiwei Chen ,Emmanuelle Ranza ,Sohail Aziz Paracha ,Syed Fahim Shah ,Valentina Guida ,Francesca Piceci-Sparascio ,Daniela Melis ,Bruno Dallapiccola ,Maria Cristina Digilio ,Antonio Novelli ,Monia Magliozzi ,Maria Teresa Fadda ,Haley Streff ,Keren Machol ,Richard A Lewis ,Vincent Zoete ,Gabriella Maria Squeo ,Paolo Prontera ,Giorgia Mancano ,Giulia Gori ,Milena Mariani ,Angelo Selicorni ,Stavroula Psoni ,Helen Fryssira ,Sofia Douzgou ,Sandrine Marlin ,Saskia Biskup ,Alessandro De Luca ,Giuseppe Merla ,Shouqin Zhao ,Timothy C Cox ,Andrew K Groves ,James R Lupski ,Qingguo Zhang ,Yong-Biao Zhang ,Stylianos E Antonarakis

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

牵张激活离子通道TMEM63B与发育性和癫痫性脑病以及进行性神经退行性疾病相关。

Vetro, Annalisa; Pelorosso, Cristiana; Balestrini, Simona; Masi, Alessio; Hambleton, Sophie; Argilli, Emanuela; Conti, Valerio; Giubbolini, Simone; Barrick, Rebekah; Bergant, Gaber; Writzl, Karin; Bijlsma, Emilia K; Brunet, Theresa; Cacheiro, Pilar; Mei, Davide; Devlin, Anita; Hoffer, Mariëtte J V; Machol, Keren; Mannaioni, Guido; Sakamoto, Masamune; Menezes, Manoj P; Courtin, Thomas; Sherr, Elliott; Parra, Riccardo; Richardson, Ruth; Roscioli, Tony; Scala, Marcello; von Stülpnagel, Celina; Smedley, Damian; Torella, Annalaura; Tohyama, Jun; Koichihara, Reiko; Hamada, Keisuke; Ogata, Kazuhiro; Suzuki, Takashi; Sugie, Atsushi; van der Smagt, Jasper J; van Gassen, Koen; Valence, Stephanie; Vittery, Emma; Malone, Stephen; Kato, Mitsuhiro; Matsumoto, Naomichi; Ratto, Gian Michele; Guerrini, Renzo