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

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

STK结构域中的致病性MAST3变异与癫痫相关

Egidio Spinelli # ,Kyle R Christensen # ,Emily Bryant ,Amy Schneider ,Jennifer Rakotomamonjy ,Alison M Muir ,Jessica Giannelli ,Rebecca O Littlejohn ,Elizabeth R Roeder ,Berkley Schmidt ,William G Wilson ,Elysa J Marco ,Kazuhiro Iwama ,Satoko Kumada ,Tiziana Pisano ,Carmen Barba ,Annalisa Vetro ,Eva H Brilstra ,Richard H van Jaarsveld ,Naomichi Matsumoto ,Hadassa Goldberg-Stern ,Patrick W Carney ,P Ian Andrews ,Christelle M El Achkar ,Sam Berkovic ,Lance H Rodan ,Renzo Guerrini ,Ingrid E Scheffer ,Heather C Mefford ,Simone Mandelstam ,Linda Laux ,John J Millichap ,Alicia Guemez-Gamboa ,Angus C Nairn ,Gemma L Carvill

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

CEP85L基因的致病变异导致散发性和家族性后部为主的无脑回畸形

Meng-Han Tsai ,Alison M Muir ,Won-Jing Wang ,Yi-Ning Kang ,Kun-Chuan Yang ,Nian-Hsin Chao ,Mei-Feng Wu ,Ying-Chao Chang ,Brenda E Porter ,Laura A Jansen ,Guillaume Sebire ,Nicolas Deconinck ,Wen-Lang Fan ,Shih-Chi Su ,Wen-Hung Chung ,Edith P Almanza Fuerte ,Michele G Mehaffey ,Chung-Kin Chan ,Kheng-Seang Lim ,Richard J Leventer ,Paul J Lockhart ,Kate Riney ,John A Damiano ,Michael S Hildebrand ,Ghayda M Mirzaa ,William B Dobyns ,Samuel F Berkovic ,Ingrid E Scheffer ,Jin-Wu Tsai ,Heather C Mefford

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

NUP188 中的双等位基因功能丧失变异会导致以神经、眼部和心脏异常为特征的可识别综合征

Alison M Muir, Jennifer L Cohen, Sarah E Sheppard, Pavithran Guttipatti, Tsz Y Lo, Natalie Weed, Dan Doherty, Danielle DeMarzo, Christina R Fagerberg, Lars Kjærsgaard, Martin J Larsen, Patrick Rump, Katharina Löhner, Yoel Hirsch, David A Zeevi, Elaine H Zackai, Elizabeth Bhoj, Yuanquan Song, Heather

Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer

验证 2q14.2 和 15q21.3 位点作为睾丸癌风险因素

Loveday, Chey; Litchfield, Kevin; Levy, Max; Holroyd, Amy; Broderick, Peter; Kote-Jarai, Zsofia; Dunning, Alison M; Muir, Kenneth; Peto, Julian; Eeles, Rosalind; Easton, Douglas F; Dudakia, Darshna; Orr, Nick; Pashayan, Nora; Reid, Alison; Huddart, Robert A; Houlston, Richard S; Turnbull, Clare

Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor

鉴定出19个新的风险位点和影响睾丸生殖细胞肿瘤易感性的潜在调控机制

Litchfield, Kevin; Levy, Max; Orlando, Giulia; Loveday, Chey; Law, Philip J; Migliorini, Gabriele; Holroyd, Amy; Broderick, Peter; Karlsson, Robert; Haugen, Trine B; Kristiansen, Wenche; Nsengimana, Jérémie; Fenwick, Kerry; Assiotis, Ioannis; Kote-Jarai, ZSofia; Dunning, Alison M; Muir, Kenneth; Peto, Julian; Eeles, Rosalind; Easton, Douglas F; Dudakia, Darshna; Orr, Nick; Pashayan, Nora; Bishop, D Timothy; Reid, Alison; Huddart, Robert A; Shipley, Janet; Grotmol, Tom; Wiklund, Fredrik; Houlston, Richard S; Turnbull, Clare

WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion

WBSCR16 是一种对线粒体融合很重要的鸟嘌呤核苷酸交换因子

Guorui Huang, Dawiyat Massoudi, Alison M Muir, Dinesh C Joshi, Chuan-Li Zhang, Shing Yan Chiu, Daniel S Greenspan

BMP1-like proteinases are essential to the structure and wound healing of skin

BMP1 样蛋白酶对皮肤结构和伤口愈合至关重要

Alison M Muir, Dawiyat Massoudi, Ngon Nguyen, Douglas R Keene, Se-Jin Lee, David E Birk, Jeffrey M Davidson, M Peter Marinkovich, Daniel S Greenspan