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

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

在新生儿重症监护室(NICU)的试点试验中,基于基因组的新生儿筛查对严重儿童遗传疾病具有较高的阳性预测值和敏感性。

Kingsmore, Stephen F; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S; Sanford, Erica; Smith, Laurie D; Willis, Mary J; Wigby, Kristen; Reimers, Rebecca

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

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

推进罕见遗传疾病基因组测序的普及:最新进展与行动呼吁

Jobanputra, Vaidehi; Schroeder, Brock; Rehm, Heidi L; Shen, Wei; Spiteri, Elizabeth; Nakouzi, Ghunwa; Taylor, Stacie; Marshall, Christian R; Meng, Linyan; Kingsmore, Stephen F; Ellsworth, Katarzyna; Ashley, Euan; Taft, Ryan J

Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder

对疑似遗传疾病婴儿进行快速全基因组测序和靶向新生儿基因检测

Maron, Jill L; Kingsmore, Stephen; Gelb, Bruce D; Vockley, Jerry; Wigby, Kristen; Bragg, Jennifer; Stroustrup, Annemarie; Poindexter, Brenda; Suhrie, Kristen; Kim, Jae H; Diacovo, Thomas; Powell, Cynthia M; Trembath, Andrea; Guidugli, Lucia; Ellsworth, Katarzyna A; Reed, Dallas; Kurfiss, Anne; Breeze, Janis L; Trinquart, Ludovic; Davis, Jonathan M

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

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes

扩展NFS1相关疾病的表型和分子谱,这些疾病会导致线粒体和胞质含铁硫簇酶的功能缺陷

Yang, Jennifer H; Friederich, Marisa W; Ellsworth, Katarzyna A; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C; Anthony Rupar, C; Hegele, Robert A; Manickam, Kandamurugu; Koboldt, Daniel C; Crist, Erin; Choi, Samantha S; Farhan, Sali M K; Harvey, Helen; Sattar, Shifteh; Karp, Natalya; Wong, Terence; Haas, Richard; Van Hove, Johan L K; Wigby, Kristen

Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care

“小熊计划”:在加州五家儿童医院开展的快速精准护理,结合快速全基因组测序(rWGS),证实可改善临床疗效并降低医疗成本。

Dimmock, David; Caylor, Sara; Waldman, Bryce; Benson, Wendy; Ashburner, Christina; Carmichael, Jason L; Carroll, Jeanne; Cham, Elaine; Chowdhury, Shimul; Cleary, John; D'Harlingue, Arthur; Doshi, A; Ellsworth, Katarzyna; Galarreta, Carolina I; Hobbs, Charlotte; Houtchens, Kathleen; Hunt, Juliette; Joe, Priscilla; Joseph, Maries; Kaplan, Robert H; Kingsmore, Stephen F; Knight, Jason; Kochhar, Aaina; Kronick, Richard G; Limon, Jolie; Martin, Madelena; Rauen, Katherine A; Schwarz, Adam; Shankar, Suma P; Spicer, Rosanna; Rojas, Mario Augusto; Vargas-Shiraishi, Ofelia; Wigby, Kristen; Zadeh, Neda; Farnaes, Lauge

Expanding the genotypic spectrum of ACTG2-related visceral myopathy

扩大ACTG2相关内脏肌病的基因型谱

James, Kiely N; Lau, Megan; Shayan, Katayoon; Lenberg, Jerica; Mardach, Rebecca; Ignacio, Romeo Jr; Halbach, Jonathan; Choi, Lillian; Kumar, Soma; Ellsworth, Katarzyna A