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

A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.

ThPOK 的多态性变异会导致先天性免疫缺陷,伴有 T 细胞缺陷和纤维化

Vaseghi-Shanjani Maryam, Sharma Mehul, Yousefi Pariya, Samra Simran, Laverty Kaitlin U, Jolma Arttu, Razavi Rozita, Yang Ally H W, Albu Mihai, Golding Liam, Lee Anna F, Tan Ryan, Richmond Phillip A, Bosticardo Marita, Rayment Jonathan H, Yang Connie L, Hildebrand Kyla J, Brager Rae, Demos Michelle K, Lau Yu-Lung, Notarangelo Luigi D, Hughes Timothy R, Biggs Catherine M, Turvey Stuart E

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

扩展SCN8A相关疾病的基因型-表型谱

Hebbar, Malavika; Al-Taweel, Nawaf; Gill, Inderpal; Boelman, Cyrus; Dean, Richard A; Goodchild, Samuel J; Mezeyova, Janette; Shuart, Noah Gregory; Johnson, J P Jr; Lee, James; Michoulas, Aspasia; Huh, Linda L; Armstrong, Linlea; Connolly, Mary B; Demos, Michelle K

Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications

通过全基因组测序在500个疑似遗传疾病的亲子三联体中检测到体细胞嵌合现象:临床和遗传咨询意义

Cook, Courtney B; Armstrong, Linlea; Boerkoel, Cornelius F; Clarke, Lorne A; du Souich, Christèle; Demos, Michelle K; Gibson, William T; Gill, Harinder; Lopez, Elena; Patel, Millan S; Selby, Kathryn; Abu-Sharar, Ziad; Elliott, Alison M; Friedman, Jan M

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

组蛋白赖氨酸甲基化酶和去甲基化酶在人类发育障碍中的作用

Faundes, Víctor; Newman, William G; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J; Demos, Michelle K; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J; Rankin, Julia; Robertson, Lisa; Temple, I Karen; Banka, Siddharth

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

ATP1A3基因中一种新的复发性突变导致CAPOS综合征

Demos, Michelle K; van Karnebeek, Clara Dm; Ross, Colin Jd; Adam, Shelin; Shen, Yaoqing; Zhan, Shing Hei; Shyr, Casper; Horvath, Gabriella; Suri, Mohnish; Fryer, Alan; Jones, Steven Jm; Friedman, Jan M