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

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration

对PLA2G6相关神经退行性疾病全球遗传患病率的估计

Kurtovic-Kozaric, Amina; Singer-Berk, Moriel; Wood, Jordan; Evangelista, Emily; Panwala, Leena; Hope, Amanda; Heinrich, Stefanie M; Baxter, Samantha; Kiel, Mark J

Response to Grosse et al

对 Grosse 等人的回应

Kingsmore, Stephen F; Smith, Laurie D; Kunard, Chris M; Bainbridge, Matthew; Batalov, Sergey; Benson, Wendy; Blincow, Eric; Caylor, Sara; Chambers, Christina; Del Angel, Guillermo; Dimmock, David P; Ding, Yan; Ellsworth, Katarzyna; Feigenbaum, Annette; Frise, Erwin; Green, Robert C; Guidugli, Lucia; Hall, Kevin P; Hansen, Christian; Hobbs, Charlotte A; Kahn, Scott D; Kiel, Mark; Van Der Kraan, Lucita; Krilow, Chad; Kwon, Yong H; Madhavrao, Lakshminarasimha; Le, Jennie; Lefebvre, Sebastien; Mardach, Rebecca; Mowrey, William R; Oh, Danny; Owen, Mallory J; Powley, George; Scharer, Gunter; Shelnutt, Seth; Tokita, Mari; Mehtalia, Shyamal S; Oriol, Albert; Papadopoulos, Stavros; Perry, James; Rosales, Edwin; Sanford, Erica; Schwartz, Steve; Tran, Duke; Reese, Martin G; Wright, Meredith; Veeraraghavan, Narayanan; Wigby, Kristen; Willis, Mary J; Wolen, Aaron R; Defay, Thomas

Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)

新型PHEX基因位点特异性数据库:对大量与X连锁低磷血症(XLH)相关的变异进行全面表征

Sarafrazi, Soodabeh; Daugherty, Sean C; Miller, Nicole; Boada, Patrick; Carpenter, Thomas O; Chunn, Lauren; Dill, Kariena; Econs, Michael J; Eisenbeis, Scott; Imel, Erik A; Johnson, Britt; Kiel, Mark J; Krolczyk, Stan; Ramesan, Prameela; Truty, Rebecca; Sabbagh, Yves

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database

ENPP1 缺乏症:基于位点特异性患者数据库的个体变异相关性临床最新进展

Mercurio, Stephanie A; Chunn, Lauren M; Khursigara, Gus; Nester, Catherine; Wray, Kathleen; Botschen, Ulrike; Kiel, Mark J; Rutsch, Frank; Ferreira, Carlos R

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

利用全面的文献综述和人口数据库估算ENPP1缺陷的遗传患病率

Chunn, Lauren M; Bissonnette, Jeffrey; Heinrich, Stefanie V; Mercurio, Stephanie A; Kiel, Mark J; Rutsch, Frank; Ferreira, Carlos R

Germline Genetic Features of Young Individuals With Colorectal Cancer

年轻结直肠癌患者的种系遗传特征

Stoffel, Elena M; Koeppe, Erika; Everett, Jessica; Ulintz, Peter; Kiel, Mark; Osborne, Jenae; Williams, Linford; Hanson, Kristen; Gruber, Stephen B; Rozek, Laura S

Clostridium difficile ribotype 027: relationship to age, detectability of toxins A or B in stool with rapid testing, severe infection, and mortality

艰难梭菌核糖体分型027:与年龄、粪便中毒素A或B的快速检测、严重感染和死亡率的关系

Rao, Krishna; Micic, Dejan; Natarajan, Mukil; Winters, Spencer; Kiel, Mark J; Walk, Seth T; Santhosh, Kavitha; Mogle, Jill A; Galecki, Andrzej T; LeBar, William; Higgins, Peter D R; Young, Vincent B; Aronoff, David M

Hematopoietic stem cells do not depend on N-cadherin to regulate their maintenance

造血干细胞的维持并不依赖于N-钙黏蛋白。

Kiel, Mark J; Acar, Melih; Radice, Glenn L; Morrison, Sean J