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

The landscape of hereditary haemochromatosis risk and diagnosis across the British Isles and Ireland

英国和爱尔兰遗传性血色素沉着症风险和诊断概况

Kerr, Shona M; Fletcher, Benjamin S; Tzoneva, Gannie; Shuldiner, Alan R; Gilbert, Edmund; Wilson, James F

The contribution of de novo coding mutations to meningomyelocele

新发编码突变对脊髓脊膜膨出的影响

Ha, Yoo-Jin Jiny; Nisal, Ashna; Tang, Isaac; Lee, Chanjae; Jhamb, Ishani; Wallace, Cassidy; Howarth, Robyn; Schroeder, Sarah; Vong, Keng Ioi; Meave, Naomi; Jiwani, Fiza; Barrows, Chelsea; Lee, Sangmoon; Jiang, Nan; Patel, Arzoo; Bagga, Krisha; Banka, Niyati; Friedman, Liana; Blanco, Francisco A; Yu, Seyoung; Rhee, Soeun; Jeong, Hui Su; Plutzer, Isaac; Major, Michael B; Benoit, Béatrice; Poüs, Christian; Heffner, Caleb; Kibar, Zoha; Bot, Gyang Markus; Northrup, Hope; Au, Kit Sing; Strain, Madison; Ashley-Koch, Allison E; Finnell, Richard H; Le, Joan T; Meltzer, Hal S; Araujo, Camila; Machado, Helio R; Stevenson, Roger E; Yurrita, Anna; Mumtaz, Sara; Ahmed, Awais; Khara, Mulazim Hussain; Mutchinick, Osvaldo M; Medina-Bereciartu, José Ramón; Hildebrandt, Friedhelm; Melikishvili, Gia; Marwan, Ahmed I; Capra, Valeria; Noureldeen, Mahmoud M; Salem, Aida M S; Issa, Mahmoud Y; Zaki, Maha S; Xu, Libin; Lee, Ji Eun; Shin, Donghyuk; Alkelai, Anna; Shuldiner, Alan R; Kingsmore, Stephen F; Murray, Stephen A; Gee, Heon Yung; Miller, W Todd; Tolias, Kimberley F; Wallingford, John B; Kim, Sangwoo; Gleeson, Joseph G

Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function

人类SLC30A8完全缺失可改善葡萄糖代谢和β细胞功能

Lamarche, Lindsey B; Koch, Christopher; Khalid, Shareef; Khan, Maleeha Zaman; Zessis, Richard; Clement, Matthew E; Denning, Daniel P; Goldfine, Allison B; Splawski, Igor; Abbasi, Ali; Harrow, Jennifer L; Underwood, Christina; Tsunoyama, Kazuhisa; Asaumi, Makoto; Kou, Ikuyo; Rodriguez-Flores, Juan L; Shuldiner, Alan R; Rasheed, Asif; Jahanzaib, Muhammad; Mian, Muhammad Rehan; Liaqat, Muhammad Bilal; Abdulsalam, Usman; Sultana, Riffat; Jalal, Anjum; Saeed, Muhammad Hamid; Abbas, Shahid; Memon, Fazal Rehman; Ishaq, Mohammad; Gurtan, Allan M; Dominy, John E; Saleheen, Danish

A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice

在门诺派家族中发现的一种与抑郁症相关的GPR156罕见变异会导致小鼠缰核过度活跃和应激敏感性。

Miller, Bradley R; Gonzaga-Jauregui, Claudia; Brigatti, Karlla W; de Jong, Job; Breese, Robert S; Ko, Seung Yeon; Puffenberger, Erik G; Van Hout, Cristopher; Young, Millie; Luna, Victor M; Staples, Jeffrey; First, Michael B; Gregoire, Hilledna J; Dwork, Andrew J; Pefanis, Evangelos; McCarthy, Shane; Brydges, Susannah; Rojas, Jose; Ye, Bin; Stahl, Eli; Di Gioia, Silvio Alessandro; Hen, René; Elwood, Kevin; Rosoklija, Gorazd; Li, Dadong; Mellis, Scott; Carey, David; Croll, Susan D; Overton, John D; Macdonald, Lynn E; Economides, Aris N; Shuldiner, Alan R; Chuhma, Nao; Rayport, Stephen; Amin, Najaf; Kushner, Steven A; Alessandri-Haber, Nicole; Markx, Sander; Strauss, Kevin A

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

对来自奥克尼和设得兰群岛创始人群的 4,198 名苏格兰参与者进行了可操作的基因变异分析,并实施了结果反馈机制

Kerr Shona M, Klaric Lucija, Muckian Marisa D, Johnston Kiera, Drake Camilla, Halachev Mihail, Cowan Emma, Snadden Lesley, Dean John, Zheng Sean L, Thami Prisca K, Ware James S, Tzoneva Gannie, Shuldiner Alan R, Miedzybrodzka Zosia, Wilson James F

Tailored Approach to Designing a Digital Research Platform for Adults Aged 95 and Older: SuperAgers Family Study

针对95岁及以上老年人的数字化研究平台设计:超级老龄化家庭研究

Milman, Sofiya; Montgomery, Aisha; Barzilai, Nir; Gao, Tina; Wilson, Kara A; Perls, Thomas; McGovern Leahy, Aoife; Burgis, Elizabeth; Ruxton, Megan; Jain, Praduman; Shuldiner, Alan R

Attitudes toward returning pathogenic KCNQ1 variant and uptake of cascade screening in the Amish

阿米什人对携带致病性KCNQ1变异基因的态度以及对级联筛查的接受程度

Streeten, Elizabeth A; Guan, Yue; Ryan, Kathleen A; Daue, Melanie; Pollin, Toni I; Wood, Kristen C R; Maloney, Kristin A; Shuldiner, Alan R; Mitchell, Braxton D; Chowdhury, Devyani; Beitelshees, Amber L

Epigenetic and proteomic signatures associate with clonal hematopoiesis expansion rate

表观遗传学和蛋白质组学特征与克隆性造血扩增率相关

Mack, Taralynn M; Raddatz, Michael A; Pershad, Yash; Nachun, Daniel C; Taylor, Kent D; Guo, Xiuqing; Shuldiner, Alan R; O'Connell, Jeffrey R; Kenny, Eimear E; Loos, Ruth J F; Redline, Susan; Cade, Brian E; Psaty, Bruce M; Bis, Joshua C; Brody, Jennifer A; Silverman, Edwin K; Yun, Jeong H; Cho, Michael H; DeMeo, Dawn L; Levy, Daniel; Johnson, Andrew D; Mathias, Rasika A; Yanek, Lisa R; Heckbert, Susan R; Smith, Nicholas L; Wiggins, Kerri L; Raffield, Laura M; Carson, April P; Rotter, Jerome I; Rich, Stephen S; Manichaikul, Ani W; Gu, C Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M Benjamin; Roden, Dan M; Kooperberg, Charles; Auer, Paul L; Desai, Pinkal; Blackwell, Thomas W; Smith, Albert V; Reiner, Alexander P; Jaiswal, Siddhartha; Weinstock, Joshua S; Bick, Alexander G

Regionally enriched rare deleterious exonic variants in the UK and Ireland

英国和爱尔兰区域性富集的罕见有害外显子变异

Halachev, Mihail; Gountouna, Viktoria-Eleni; Meynert, Alison; Tzoneva, Gannie; Shuldiner, Alan R; Semple, Colin A; Wilson, James F

NOTCH3 p.Arg1231Cys is markedly enriched in South Asians and associated with stroke

NOTCH3 p.Arg1231Cys 突变在南亚人群中显著富集,且与中风相关。

Rodriguez-Flores, Juan Lorenzo; Khalid, Shareef; Parikshak, Neelroop; Rasheed, Asif; Ye, Bin; Kapoor, Manav; Backman, Joshua; Sepehrband, Farshid; Gioia, Silvio Alessandro Di; Gelfman, Sahar; De, Tanima; Banerjee, Nilanjana; Sharma, Deepika; Martinez, Hector; Castaneda, Sofia; D'Ambrosio, David; Zhang, Xingmin A; Xun, Pengcheng; Tsai, Ellen; Tsai, I-Chun; Khan, Maleeha Zaman; Jahanzaib, Muhammad; Mian, Muhammad Rehan; Liaqat, Muhammad Bilal; Mahmood, Khalid; Salam, Tanvir Us; Hussain, Muhammad; Iqbal, Javed; Aslam, Faizan; Cantor, Michael N; Tzoneva, Gannie; Overton, John; Marchini, Jonathan; Reid, Jeffrey G; Baras, Aris; Verweij, Niek; Lotta, Luca A; Coppola, Giovanni; Karalis, Katia; Economides, Aris; Fazio, Sergio; Liedtke, Wolfgang; Danesh, John; Kamal, Ayeesha; Frossard, Philippe; Coleman, Thomas; Shuldiner, Alan R; Saleheen, Danish