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

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities

GON4L基因的双等位基因功能缺失变异会导致小头畸形和脑结构异常。

Simo Li #,Sanami Takada #,Ghada M H Abdel-Salam,Mohamed S Abdel-Hamid,Maha S Zaki,Mahmoud Y Issa,Aida M S Salem,Eriko Koshimizu,Atsushi Fujita,Ryoko Fukai,Toshio Ohshima,Naomichi Matsumoto,Noriko Miyake

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly

剪接体基因PPIL1和PRP17的突变导致神经退行性脑桥小脑发育不全伴小头畸形

Guoliang Chai,Alice Webb,Chen Li,Danny Antaki,Sangmoon Lee,Martin W Breuss,Nhi Lang,Valentina Stanley,Paula Anzenberg,Xiaoxu Yang,Trevor Marshall,Patrick Gaffney,Klaas J Wierenga,Brian Hon-Yin Chung,Mandy Ho-Yin Tsang,Lynn S Pais,Alysia Kern Lovgren,Grace E VanNoy,Heidi L Rehm,Ghayda Mirzaa,Eyby Leon,Jullianne Diaz,Alexander Neumann,Arnout P Kalverda,Iain W Manfield,David A Parry,Clare V Logan,Colin A Johnson,David T Bonthron,Elizabeth M A Valleley,Mahmoud Y Issa,Sherif F Abdel-Ghafar,Mohamed S Abdel-Hamid,Patricia Jennings,Maha S Zaki,Eamonn Sheridan,Joseph G Gleeson

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

双等位基因 GOT2 突变导致可治疗的苹果酸-天冬氨酸穿梭相关脑病

Clara D M van Karnebeek, Rúben J Ramos, Xiao-Yan Wen, Maja Tarailo-Graovac, Joseph G Gleeson, Cristina Skrypnyk, Koroboshka Brand-Arzamendi, Farhad Karbassi, Mahmoud Y Issa, Robin van der Lee, Britt I Drögemöller, Janet Koster, Justine Rousseau, Philippe M Campeau, Youdong Wang, Feng Cao, Meng Li, J

Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome

原钙粘蛋白-12 的缺失导致间脑-中脑连接处发育不良综合征

Alicia Guemez-Gamboa, Ahmet Okay Çağlayan, Valentina Stanley, Anne Gregor, Maha S Zaki, Sahar N Saleem, Damir Musaev, Jennifer McEvoy-Venneri, Denice Belandres, Naiara Akizu, Jennifer L Silhavy, Jana Schroth, Rasim Ozgur Rosti, Brett Copeland, Steven M Lewis, Rebecca Fang, Mahmoud Y Issa, Huseyin Pe

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects

SUFU 中的次等位基因隐性变异会损害 Sonic Hedgehog 通路并导致伴有颅面和骨骼缺陷的 Joubert 综合征

Roberta De Mori, Marta Romani, Stefano D'Arrigo, Maha S Zaki, Elisa Lorefice, Silvia Tardivo, Tommaso Biagini, Valentina Stanley, Damir Musaev, Joel Fluss, Alessia Micalizzi, Sara Nuovo, Barbara Illi, Luisa Chiapparini, Lucia Di Marcotullio, Mahmoud Y Issa, Danila Anello, Antonella Casella, Monia Gi

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

TBC1D23 纯合突变导致非退行性小脑桥脑发育不全

Isaac Marin-Valencia, Andreas Gerondopoulos, Maha S Zaki, Tawfeg Ben-Omran, Mariam Almureikhi, Ercan Demir, Alicia Guemez-Gamboa, Anne Gregor, Mahmoud Y Issa, Bart Appelhof, Susanne Roosing, Damir Musaev, Basak Rosti, Sara Wirth, Valentina Stanley, Frank Baas, Francis A Barr, Joseph G Gleeson

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

PIGG 致病变异可导致智力障碍、癫痫和肌张力低下

Periklis Makrythanasis, Mitsuhiro Kato, Maha S Zaki, Hirotomo Saitsu, Kazuyuki Nakamura, Federico A Santoni, Satoko Miyatake, Mitsuko Nakashima, Mahmoud Y Issa, Michel Guipponi, Audrey Letourneau, Clare V Logan, Nicola Roberts, David A Parry, Colin A Johnson, Naomichi Matsumoto, Hanan Hamamy, Eamonn