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

Long Read Genome Sequencing Elucidates Diverse Functional Consequences of Structural and Repeat Variation in Autism

长读长基因组测序阐明自闭症中结构和重复序列变异的多种功能后果

Mortazavi, Milad; Guevara, James; Diaz, Joshua; Tran, Stephen; Ziaei Jam, Helyaneh; Batalov, Sergey; Bainbridge, Matthew; Besterman, Aaron D; Gymrek, Melissa; Palmer, Abraham A; Sebat, Jonathan

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

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations

基因组测序可以检测出多种具有临床意义的拷贝数变异和其他基因组改变。

James, Kiely N; Chowdhury, Shimul; Ding, Yan; Batalov, Sergey; Watkins, Kelly; Kwon, Yong Hyun; Van Der Kraan, Lucitia; Ellsworth, Katarzyna; Kingsmore, Stephen F; Guidugli, Lucia

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

利用全基因组测序重新分类婴儿死亡的病因

Owen, Mallory J; Wright, Meredith S; Batalov, Sergey; Kwon, Yonghyun; Ding, Yan; Chau, Kevin K; Chowdhury, Shimul; Sweeney, Nathaly M; Kiernan, Elizabeth; Richardson, Andrew; Batton, Emily; Baer, Rebecca J; Bandoli, Gretchen; Gleeson, Joseph G; Bainbridge, Matthew; Chambers, Christina D; Kingsmore, Stephen F

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

The Genomic landscape of short tandem repeats across multiple ancestries

跨多个祖先的短串联重复序列的基因组图谱

Vijayaraghavan, Prashanth; Batalov, Sergey; Ding, Yan; Sanford, Erica; Kingsmore, Stephen F; Dimmock, David; Hobbs, Charlotte; Bainbridge, Matthew

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

出版商更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

作者更正:快速全基因组测序影响先天性心脏病患儿的护理和资源利用

Sweeney, Nathaly M; Nahas, Shareef A; Chowdhury, Shimul; Batalov, Sergey; Clark, Michelle; Caylor, Sara; Cakici, Julie; Nigro, John J; Ding, Yan; Veeraraghavan, Narayanan; Hobbs, Charlotte; Dimmock, David; Kingsmore, Stephen F