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

Two lysosomal genes ATP13A2 and GBA1 interact to drive neurodegeneration.

溶酶体基因 ATP13A2 和 GBA1 相互作用,导致神经退行性变。

Gu Mingxue, Zhao Jinghan, Deng Mingxi, Lin Guang, Pan Xueyang, Lin Wenwen, Ma Mengqi, Kim Jinyong, Byeon Seul Kee, Pandey Akhilesh, Lange Lara M, Shaw Chad A, Kim Jonggeol, Trinh Joanne, Klein Christine, Kanca Oguz, Shulman Joshua M, Bellen Hugo J

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

WNT4 deficiency impacts heart, diaphragm, and palate development: Insights from human genetics, machine learning, and mouse models

WNT4 缺陷影响心脏、膈肌和腭的发育:来自人类遗传学、机器学习和鼠模型的启示

Hernández-García, Andrés; Kim, Bum Jun; Chitayat, David; Shannon, Patrick; Hedges, Stephanie; Al Bandari, Maria; Guillen Sacoto, Maria J; Bates, Emily Anne; Ozekin, Yunus H; Faundes, Victor; Luna, Pamela N; Shaw, Chad A; Rasmussen, Tara L; Hsu, Chih-Wei; Scott, Daryl A

Revealing the nervous system requirements of Alzheimer disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

Deger, Jennifer M; Hannan, Shabab B; Gu, Mingxue; Strohlein, Colleen E; Goodman, Lindsey D; Pasupuleti, Sasidhar; Shaik, Zahid; Ma, Liwen; Li, Yarong; Li, Jiayang; Stephens, Morgan C; Tyrlík, Michal; Liu, Zhandong; Al-Ramahi, Ismael; Botas, Juan; Shaw, Chad A; Kanca, Oguz; Bellen, Hugo J; Shulman, Joshua M

The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases

因果枢纽:复杂疾病中遗传异质性和变异发现的结构方法

Shaw, Chad A; Williams, C J; Tan, Taotao; Illera, Daniel; Di, Nicholas; Shulman, Joshua M; Belmont, John W

Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)

临床外显子组测序的有效性和涉及非孤立性先天性肾脏和泌尿道畸形(CAKUT+)的表型扩展

Rivera-Munoz, E Andres; Zhao, Xiaonan E; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Posey, Jennifer E; Scott, Daryl A

Revealing the nervous system requirements of Alzheimer's disease risk genes in Drosophila

揭示果蝇中阿尔茨海默病风险基因的神经系统需求

Deger, Jennifer M; Hannan, Shabab B; Gu, Mingxue; Strohlein, Colleen E; Goodman, Lindsey D; Pasupuleti, Sasidhar; Shaik, Zahid; Ma, Liwen; Li, Yarong; Li, Jiayang; Stephens, Morgan C; Tyrlík, Michal; Liu, Zhandong; Al-Ramahi, Ismael; Botas, Juan; Shaw, Chad A; Kanca, Oguz; Bellen, Hugo J; Shulman, Joshua M

Targeted accurate RNA consensus sequencing (tARC-seq) reveals mechanisms of replication error affecting SARS-CoV-2 divergence

靶向精确RNA共识测序(tARC-seq)揭示了影响SARS-CoV-2序列差异的复制错误机制

Bradley, Catherine C; Wang, Chen; Gordon, Alasdair J E; Wen, Alice X; Luna, Pamela N; Cooke, Matthew B; Kohrn, Brendan F; Kennedy, Scott R; Avadhanula, Vasanthi; Piedra, Pedro A; Lichtarge, Olivier; Shaw, Chad A; Ronca, Shannon E; Herman, Christophe

The impact of the Turkish population variome on the genomic architecture of rare disease traits

土耳其人群变异组对罕见病性状基因组结构的影响

Coban-Akdemir, Zeynep; Song, Xiaofei; Ceballos, Francisco C; Pehlivan, Davut; Karaca, Ender; Bayram, Yavuz; Mitani, Tadahiro; Gambin, Tomasz; Bozkurt-Yozgatli, Tugce; Jhangiani, Shalini N; Muzny, Donna M; Lewis, Richard A; Liu, Pengfei; Boerwinkle, Eric; Hamosh, Ada; Gibbs, Richard A; Sutton, V Reid; Sobreira, Nara; Carvalho, Claudia M B; Shaw, Chad A; Posey, Jennifer E; Valle, David; Lupski, James R

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

高分子诊断率和涉及综合征性肛门直肠畸形的新型表型扩展

Belanger Deloge, Raymond; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A