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

Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand

拉凯奥拉基因组学平台:新西兰基因组医学研究的先行者

Rye, Claire E; Puketapu-Watson, Huti; Wihongi, Helen; Aika, Ben Te; Macartney-Coxson, Donia; de Ligt, Joep; Print, Cristin G; Le Quesne Stabej, Polona; Tsai, Peter; Curran, Ben; Jones, Nick; Huh, Jun; Perkins, E Owen; Pestle, Matt; Zhao, Kenny; Halytskyy, Yuriy; Robertson, Stephen P; Halliday, Benjamin J; Goodin, Elizabeth; Markie, David M; Lamont, Alastair; Wilcox, Phillip

Biallelic variants in EFEMP1 in a man with a pronounced connective tissue phenotype

一名具有明显结缔组织表型的男性,其 EFEMP1 基因存在双等位基因变异

Driver, Sean G W; Jackson, Meremaihi R; Richter, Konrad; Tomlinson, Paul; Brockway, Ben; Halliday, Benjamin J; Markie, David M; Robertson, Stephen P; Wade, Emma M

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

WDR26单倍体功能不全会导致一种可识别的综合征,其特征包括智力障碍、癫痫发作、步态异常和独特的面部特征。

Skraban, Cara M; Wells, Constance F; Markose, Preetha; Cho, Megan T; Nesbitt, Addie I; Au, P Y Billie; Begtrup, Amber; Bernat, John A; Bird, Lynne M; Cao, Kajia; de Brouwer, Arjan P M; Denenberg, Elizabeth H; Douglas, Ganka; Gibson, Kristin M; Grand, Katheryn; Goldenberg, Alice; Innes, A Micheil; Juusola, Jane; Kempers, Marlies; Kinning, Esther; Markie, David M; Owens, Martina M; Payne, Katelyn; Person, Richard; Pfundt, Rolph; Stocco, Amber; Turner, Claire L S; Verbeek, Nienke E; Walsh, Laurence E; Warner, Taylor C; Wheeler, Patricia G; Wieczorek, Dagmar; Wilkens, Alisha B; Zonneveld-Huijssoon, Evelien; Kleefstra, Tjitske; Robertson, Stephen P; Santani, Avni; van Gassen, Koen L I; Deardorff, Matthew A

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

DVL1基因突变会导致骨硬化型罗宾诺综合征

Bunn Kieran J, Daniel Phil, Rösken Heleen S, O'Neill Adam C, Cameron-Christie Sophia R, Morgan Tim, Brunner Han G, Lai Angeline, Kunst Henricus P M, Markie David M, Robertson Stephen P