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

Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease

在制定冯·希佩尔-林道综合征 (VHL) 的 ACMG/AMP 规范中采用多平台管理

Ritter, D I; Badduke, C; Doonanco, K; Kang, H C; Pesaran, T; Ridd, S; Sheen, C; Farncombe, K M; Giles, R H; Luo, M; Pipko, N; Tsoi, C T; McGoldrick, K; Mighton, C; Abu Kashabeh, R H; Sanabria-Salas, M C; Talab, Y; Deka, K B; Jacobs, M F; Tuzlali, E; Gallinger, B; Griffith, M; Krysiak, K; Machado, J; Maher, E R; Tirosh, A; Kim, R H

Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience

下一代测序时代下的产前基因检测:加拿大一家中心的经验

Almubarak, Asra; Zhang, Dan; Kosak, Mackenzie; Rathwell, Sarah; Doonanco, Jasmine; Eaton, Alison J; Kannu, Peter; Lazier, Joanna; Lui, Monique; Niederhoffer, Karen Y; MacPherson, Melissa J; Sorsdahl, Melissa; Caluseriu, Oana

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

对遗传性乳腺癌和卵巢癌易感基因测序中常用基因的临床有效性评估

Lee, Kristy; Seifert, Bryce A; Shimelis, Hermela; Ghosh, Rajarshi; Crowley, Stephanie B; Carter, Natalie J; Doonanco, Kurston; Foreman, A Katherine; Ritter, Deborah I; Jimenez, Sharisse; Trapp, Mackenzie; Offit, Kenneth; Plon, Sharon E; Couch, Fergus J

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

TUBB 或 MAPRE2 基因突变导致皮肤周围出现 Kunze 型皱纹

Mala Isrie, Martin Breuss, Guoling Tian, Andi Harley Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karac

Extreme growth failure is a common presentation of ligase IV deficiency

极度生长发育迟缓是连接酶IV缺乏症的常见表现。

Murray, Jennie E; Bicknell, Louise S; Yigit, Gökhan; Duker, Angela L; van Kogelenberg, Margriet; Haghayegh, Sara; Wieczorek, Dagmar; Kayserili, Hülya; Albert, Michael H; Wise, Carol A; Brandon, January; Kleefstra, Tjitske; Warris, Adilia; van der Flier, Michiel; Bamforth, J Steven; Doonanco, Kurston; Adès, Lesley; Ma, Alan; Field, Michael; Johnson, Diana; Shackley, Fiona; Firth, Helen; Woods, C Geoffrey; Nürnberg, Peter; Gatti, Richard A; Hurles, Matthew; Bober, Michael B; Wollnik, Bernd; Jackson, Andrew P