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

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

MECP2 重复综合征中的结构变异等位基因异质性有助于了解临床严重程度和疾病表达的变化

Davut Pehlivan #, Jesse D Bengtsson #, Sameer S Bajikar #, Christopher M Grochowski, Ming Yin Lun, Mira Gandhi, Angad Jolly, Alexander J Trostle, Holly K Harris, Bernhard Suter, Sukru Aras, Melissa B Ramocki, Haowei Du, Michele G Mehaffey, KyungHee Park, Ellen Wilkey, Cemal Karakas, Jesper J Eisfeld

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

CELSR3 中的双等位基因变异与中枢神经系统和泌尿道异常有关

Jil D Stegmann #, Jeshurun C Kalanithy #, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Mye

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

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

DHX9 基因(编码 DExH-box 解旋酶 DHX9 的基因)的单等位基因变异是神经发育障碍和腓骨肌萎缩症的根本原因

Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Moez Dawood, Alina Kurolap, Noa Zunz Henig, Jawid M Fatih, Isabella Herman, Haowei Du, Tadahiro Mitani, Lore Becker, Birgit Rathkolb, Raffaele Gerlini, Claudia Seisenberger, Susan Marschall, Jill V Hunter, Amanda Gerard, Alexis He

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

土耳其人群中神经发育障碍多位点致病变异的患病率较高

Tadahiro Mitani ,Sedat Isikay ,Alper Gezdirici ,Elif Yilmaz Gulec ,Jaya Punetha ,Jawid M Fatih ,Isabella Herman ,Gulsen Akay ,Haowei Du ,Daniel G Calame ,Akif Ayaz ,Tulay Tos ,Gozde Yesil ,Hatip Aydin ,Bilgen Geckinli ,Nursel Elcioglu ,Sukru Candan ,Ozlem Sezer ,Haktan Bagis Erdem ,Davut Gul ,Emine Demiral ,Muhsin Elmas ,Osman Yesilbas ,Betul Kilic ,Serdal Gungor ,Ahmet C Ceylan ,Sevcan Bozdogan ,Ozge Ozalp ,Salih Cicek ,Huseyin Aslan ,Sinem Yalcintepe ,Vehap Topcu ,Yavuz Bayram ,Christopher M Grochowski ,Angad Jolly ,Moez Dawood ,Ruizhi Duan ,Shalini N Jhangiani ,Harsha Doddapaneni ,Jianhong Hu ,Donna M Muzny ,Zeynep Coban Akdemir ,Ender Karaca ,Claudia M B Carvalho ,Richard A Gibbs ,Jennifer E Posey ,James R Lupski ,Davut Pehlivan

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly

寨卡病毒靶基因 ANKLE2 发生突变,破坏了果蝇神经母细胞中的不对称细胞分裂途径,导致小头畸形

Nichole Link, Hyunglok Chung, Angad Jolly, Marjorie Withers, Burak Tepe, Benjamin R Arenkiel, Priya S Shah, Nevan J Krogan, Hatip Aydin, Bilgen B Geckinli, Tulay Tos, Sedat Isikay, Beyhan Tuysuz, Ganesh H Mochida, Ajay X Thomas, Robin D Clark, Ghayda M Mirzaa, James R Lupski, Hugo J Bellen