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

Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder

BCAT1基因的双等位基因变异会损害线粒体功能,并与一种候选神经代谢疾病相关。

Brianna L DiSanza,Giulia S Porcari,Livia Sertori Finoti,Leonardo Ramos-Rodriguez,Devin M Burris,Justin A McDonough,Gang Ning,Grace Fagan,Guy T Helman,Erin Weiss,Ryan J Taft,Amy Pizzino,Matthew T Whitehead,Amy Waldman,Cas Simons,Xilma Ortiz-Gonzalez,William C Skarnes,Adeline Vanderver,Elizabeth J Bhoj,Rebecca C Ahrens-Nicklas

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

高密度 SNP 阵列和基因组测序的重新分析揭示了与 KOLF2.1J iPSC 中的神经发育障碍相关的 CNV

Carolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, Brianna Disanza, Gregory G Cajka, Sunyimeng Lei, Alyssa Gagne, Jean Ann Maguire, Thomas Roule, Ophir Shalem, Elizabeth J Bhoj, Rebecca C Ahrens-Nicklas, Deborah French, Ethan M Goldberg, Kai Wang, Joseph Glessner, Naiara Akizu

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

对404名由CTNNB1变异引起的神经发育障碍患者进行基因组和表型特征分析

Sayaka Kayumi,Luis A Pérez-Jurado,María Palomares,Sneha Rangu,Sarah E Sheppard,Wendy K Chung,Michael C Kruer,Mira Kharbanda,David J Amor,George McGillivray,Julie S Cohen,Sixto García-Miñaúr,Clare L van Eyk,Kelly Harper,Lachlan A Jolly,Dani L Webber,Christopher P Barnett,Fernando Santos-Simarro,Marta Pacio-Míguez,Angela Del Pozo,Somayeh Bakhtiari,Matthew Deardorff,Holly A Dubbs,Kosuke Izumi,Katheryn Grand,Christopher Gray,Paul R Mark,Elizabeth J Bhoj,Dong Li,Xilma R Ortiz-Gonzalez,Beth Keena,Elaine H Zackai,Ethan M Goldberg,Guiomar Perez de Nanclares,Arrate Pereda,Isabel Llano-Rivas,Ignacio Arroyo,María Ángeles Fernández-Cuesta,Christel Thauvin-Robinet,Laurence Faivre,Aurore Garde,Benoit Mazel,Ange-Line Bruel,Michael L Tress,Eva Brilstra,Amena Smith Fine,Kylie E Crompton,Alexander P A Stegmann,Margje Sinnema,Servi C J Stevens,Joost Nicolai,Gaetan Lesca,Laurence Lion-François,Damien Haye,Nicolas Chatron,Amelie Piton,Mathilde Nizon,Benjamin Cogne,Siddharth Srivastava,Jennifer Bassetti,Candace Muss,Karen W Gripp,Rebecca A Procopio,Francisca Millan,Michelle M Morrow,Melissa Assaf,Andres Moreno-De-Luca,Shelagh Joss,Mark J Hamilton,Marta Bertoli,Nicola Foulds,Shane McKee,Alastair H MacLennan,Jozef Gecz,Mark A Corbett

Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental features

SMARCA5(染色质重塑因子)的致病变异可导致一系列综合征性神经发育特征

Dong Li, Qin Wang, Naihua N Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy, Melanie Brugger, Katheryn Grand, Kirsty McWalter, Maria J Guillen Sacoto, Emma Wakeling, Jane Hurst, Michael E March, Elizabeth J Bhoj, Małgorzata J M Nowaczyk, Claudia Gonzaga-Jauregui, Mariam Mathew, Ashita Dava-Wal