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

Trends in the Utilization of BRCA1 and BRCA2 Testing After the Introduction of a Publicly Funded Genetic Testing Program

公共资助基因检测项目推出后,BRCA1和BRCA2检测的使用趋势

Dossa, Fahima; Baxter, Nancy N; Sutradhar, Rinku; Little, Tari; Velsher, Lea; Lerner-Ellis, Jordan; Eisen, Andrea; Metcalfe, Kelly

Disturbed sleep is associated with reduced verbal episodic memory and entorhinal cortex volume in younger middle-aged women with risk-reducing early ovarian removal

睡眠障碍与年轻中年女性(接受风险降低型早期卵巢切除术)的言语情景记忆力下降和内嗅皮层体积缩小有关。

Gervais, Nicole J; Gravelsins, Laura; Brown, Alana; Reuben, Rebekah; Perovic, Mateja; Karkaby, Laurice; Nicoll, Gina; Laird, Kazakao; Ramana, Shreeyaa; Bernardini, Marcus Q; Jacobson, Michelle; Velsher, Lea; Foulkes, William; Rajah, M Natasha; Olsen, Rosanna K; Grady, Cheryl; Einstein, Gillian

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

医生指导下的基因筛查用于评估个人罹患需采取医疗措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

更正:医生指导下的基因筛查评估个人罹患需采取医学干预措施的疾病的风险:一项大型多中心队列研究

Haverfield, Eden V; Esplin, Edward D; Aguilar, Sienna J; Hatchell, Kathryn E; Ormond, Kelly E; Hanson-Kahn, Andrea; Atwal, Paldeep S; Macklin-Mantia, Sarah; Hines, Stephanie; Sak, Caron W-M; Tucker, Steven; Bleyl, Steven B; Hulick, Peter J; Gordon, Ora K; Velsher, Lea; Gu, Jessica Y J; Weissman, Scott M; Kruisselbrink, Teresa; Abel, Christopher; Kettles, Michele; Slavotinek, Anne; Mendelsohn, Bryce A; Green, Robert C; Aradhya, Swaroop; Nussbaum, Robert L

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

明确X连锁MSL3相关疾病的基因型和表型谱

Brunet, Theresa; McWalter, Kirsty; Mayerhanser, Katharina; Anbouba, Grace M; Armstrong-Javors, Amy; Bader, Ingrid; Baugh, Evan; Begtrup, Amber; Bupp, Caleb P; Callewaert, Bert L; Cereda, Anna; Cousin, Margot A; Del Rey Jimenez, Juan C; Demmer, Laurie; Dsouza, Nikita R; Fleischer, Nicole; Gavrilova, Ralitza H; Ghate, Sumedha; Graf, Elisabeth; Green, Andrew; Green, Sarah R; Iascone, Maria; Kdissa, Ameni; Klee, Dirk; Klee, Eric W; Lancaster, Emily; Lindstrom, Kristin; Mayr, Johannes A; McEntagart, Meriel; Meeks, Naomi J L; Mittag, Dana; Moore, Harrison; Olsen, Anne K; Ortiz, Damara; Parsons, Gretchen; Pena, Loren D M; Person, Richard E; Punj, Sumit; Ramos-Rivera, Gonzalo Alonso; Sacoto, Maria J Guillen; Bradley Schaefer, G; Schnur, Rhonda E; Scott, Tiana M; Scott, Daryl A; Serbinski, Carolyn R; Shashi, Vandana; Siu, Victoria M; Stadheim, Barbro Fossøy; Sullivan, Jennifer A; Švantnerová, Jana; Velsher, Lea; Wargowski, David S; Wentzensen, Ingrid M; Wieczorek, Dagmar; Winkelmann, Juliane; Yap, Patrick; Zech, Michael; Zimmermann, Michael T; Meitinger, Thomas; Distelmaier, Felix; Wagner, Matias

Building the What Comes Next Cohort for BRCA1 and BRCA2 testing: a descriptive analysis

构建 BRCA1 和 BRCA2 检测的“下一步”队列:一项描述性分析

Dossa, Fahima; Metcalfe, Kelly; Sutradhar, Rinku; Little, Tari; Eisen, Andrea; Chun, Kathy; Meschino, Wendy S; Velsher, Lea; Ellis, Jordan Lerner; Baxter, Nancy N

Germline variants and phenotypic spectrum in a Canadian cohort of individuals with diffuse gastric cancer

加拿大一组弥漫性胃癌患者的种系变异和表型谱

Aronson, M; Swallow, C; Govindarajan, A; Semotiuk, K; Cohen, Z; Kaurah, P; Velsher, L; Ambus, I; Buckley, K; Forster-Gibson, C; Meschino, W S; Blumenthal, A; Kim, R H; Brar, S

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

ATP8A2 的隐性突变会导致严重的肌张力减退、认知障碍、运动过度运动障碍和进行性视神经萎缩

Hugh J McMillan, Aida Telegrafi, Amanda Singleton, Megan T Cho, Daniel Lelli, Francis C Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E Erasmus, David A Koolen, Charlotte A Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Ya

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

KDM6A 单倍体不足与严重的精神运动障碍、全身生长受限、癫痫和腭裂有关

Amelia M Lindgren, Tatiana Hoyos, Michael E Talkowski, Carrie Hanscom, Ian Blumenthal, Colby Chiang, Carl Ernst, Shahrin Pereira, Zehra Ordulu, Carol Clericuzio, Joanne M Drautz, Jill A Rosenfeld, Lisa G Shaffer, Lea Velsher, Tania Pynn, Joris Vermeesch, David J Harris, James F Gusella, Eric C Liao,

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

EPCAM缺失阳性林奇综合征患者罹患结直肠癌和子宫内膜癌的风险:一项队列研究

Kempers, Marlies J E; Kuiper, Roland P; Ockeloen, Charlotte W; Chappuis, Pierre O; Hutter, Pierre; Rahner, Nils; Schackert, Hans K; Steinke, Verena; Holinski-Feder, Elke; Morak, Monika; Kloor, Matthias; Büttner, Reinhard; Verwiel, Eugene T P; van Krieken, J Han; Nagtegaal, Iris D; Goossens, Monique; van der Post, Rachel S; Niessen, Renée C; Sijmons, Rolf H; Kluijt, Irma; Hogervorst, Frans B L; Leter, Edward M; Gille, Johan J P; Aalfs, Cora M; Redeker, Egbert J W; Hes, Frederik J; Tops, Carli M J; van Nesselrooij, Bernadette P M; van Gijn, Marielle E; Gómez García, Encarna B; Eccles, Diana M; Bunyan, David J; Syngal, Sapna; Stoffel, Elena M; Culver, Julie O; Palomares, Melanie R; Graham, Tracy; Velsher, Lea; Papp, Janos; Oláh, Edith; Chan, Tsun L; Leung, Suet Y; van Kessel, Ad Geurts; Kiemeney, Lambertus A L M; Hoogerbrugge, Nicoline; Ligtenberg, Marjolijn J L