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

Functional analysis of human EED variants using Drosophila

利用果蝇对人类EED变异体进行功能分析

Cyrus, Sharri S; Medina-Giró, Sònia; Lian, Tianshun; Allan, Douglas W; Gibson, William T

Using long-read sequencing to detect and subtype a case with Temple syndrome

利用长读长测序技术检测和分型一例坦普尔综合征病例。

Dada, Sarah; Akbari, Vahid; Hejla, Duha; Shen, Yaoqing; Dixon, Katherine; Choufani, Sanaa; Weksberg, Rosanna A; Boerkoel, Cornelius F; Stewart, Laura; Schlade-Bartusiak, Kamilla; Strong, Emma; Fox, Danya; Gamu, Daniel; Gibson, William T; Jones, Steven J M

Correction: Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

更正:患有遗传疾病的青少年身份认同发展与适应:一项以定性研究为导向的混合方法研究,旨在制定优化临床遗传服务策略

Wainstein, Tasha; Boelman, Cyrus; Ens, Connie; Gibson, William T; Gregory-Evans, Kevin; Kolawole, Olubayo U; Marshall, Sheila K; Selby, Kathryn; Austin, Jehannine; Elliott, Alison M

Identity development and adaptation in adolescents with genetic conditions: a qualitatively oriented mixed-methods study to develop strategies for optimizing clinical genetics services

患有遗传疾病的青少年身份认同发展与适应:一项以定性研究为导向的混合方法研究,旨在制定优化临床遗传服务策略

Wainstein, Tasha; Boelman, Cyrus; Ens, Connie; Gibson, William T; Gregory-Evans, Kevin; Kolawole, Olubayo U; Marshall, Sheila K; Selby, Kathryn; Austin, Jehannine; Elliott, Alison M

NPAS4 Depletion in POMC Neurons Protects From Obesity and Alters the Feeding-regulated Transcriptome in Male Mice.

POMC神经元中NPAS4的缺失可防止雄性小鼠肥胖,并改变摄食调节的转录组

Yoon Ji Soo, Gamu Daniel, Gibson William T, Lynn Francis C

Identifying Rare Germline Variants Associated with Metastatic Prostate Cancer Through an Extreme Phenotype Study

通过极端表型研究识别与转移性前列腺癌相关的罕见种系变异

Lin, Yen-Yi; Noghabi, Hamideh Sharifi; Volik, Stanislav; Bell, Robert; Sar, Funda; Haegert, Anne; Chung, Hee Chul; Fazli, Ladan; Oo, Htoo Zarni; Daugaard, Mads; Kuo, Ming-Han; Hsu, Sheng-Chieh; Imeda, Eddie L; Zanettini, Claudio; Queiroz, Lucio; Schlotmann, Balthasar; Gheybi, Kazzem; Cooper, Colin; Kote-Jarai, Zsofia; Eeles, Rosalind; Kung, Hsing-Jien; Marchionni, Luigi; Weischenfeldt, Joachim; Miller, Keith D; Rabinowitz, Alan; Wang, Yuzhuo; Zhang, Hai-Feng; Sorensen, Poul H; Carey, Mark S; Gleave, Martin; Hayes, Vanessa M; Gibson, William T; Collins, Colin C

Rare diseases of epigenetic origin: Challenges and opportunities

表观遗传起源的罕见病:挑战与机遇

Fu, Maggie P; Merrill, Sarah M; Sharma, Mehul; Gibson, William T; Turvey, Stuart E; Kobor, Michael S

Severe obesity and global developmental delay in preschool children: Findings from a Canadian Paediatric Surveillance Program study

加拿大儿科监测项目研究发现,学龄前儿童重度肥胖与全面发育迟缓密切相关。

Gehring, Nicole D; Birken, Catherine S; Belanger, Stacey; Bridger, Tracey; Chanoine, Jean-Pierre; Gibson, William T; Hadjiyannakis, Stasia; Haines, Jess; Hamilton, Jill; Haqq, Andrea M; Henderson, Mélanie; Ho, Josephine; Irvine, Brittany; Legault, Laurent; Luca, Paola; Maguire, Jonathon; McPherson, Amy C; Morrison, Katherine; Wahi, Gita; Weksberg, Rosanna; Zwaigenbaum, Lonnie; Ball, Geoff D C

Transient Polycomb activity represses developmental genes in growing oocytes

瞬时多梳蛋白活性抑制生长卵母细胞中的发育基因

Jarred, Ellen G; Qu, Zhipeng; Tsai, Tesha; Oberin, Ruby; Petautschnig, Sigrid; Bildsoe, Heidi; Pederson, Stephen; Zhang, Qing-Hua; Stringer, Jessica M; Carroll, John; Gardner, David K; Van den Buuse, Maarten; Sims, Natalie A; Gibson, William T; Adelson, David L; Western, Patrick S

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

全基因组测序与遗传疾病的临床诊断:CAUSES 研究

Elliott, Alison M; Adam, Shelin; du Souich, Christèle; Lehman, Anna; Nelson, Tanya N; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J; Patel, Millan S; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M