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

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

ISNS General Guidelines for Neonatal Bloodspot Screening 2025

ISNS 2025 年新生儿血斑筛查通用指南

Webster, Dianne; Gaviglio, Amy; Khan, Aysha Habib; Baker, Mei; Cheillan, David; Chabraoui, Layachi; Abdoh, Ghassan; Cabello, Juan; Giugliani, Roberto; Platis, Dimitris; Østrup, Jan; Howell, R Rodney; Schielen, Peter C J I; Bonham, James R

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

Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education

FMR1 CGG重复序列范围内女性的死亡率:高等教育的神经保护作用

Hong, Jinkuk; Dembo, Robert S; DaWalt, Leann Smith; Baker, Mei Wang; Berry-Kravis, Elizabeth; Mailick, Marsha R

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population

新生儿重症联合免疫缺陷筛查:从早产儿人群筛查和随访中汲取的经验教训

Gaviglio, Amy; Lasarev, Michael; Sheller, Ruthanne; Singh, Sikha; Baker, Mei

FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers

FMR1 CGG重复序列和压力对母亲自我报告的认知功能的影响

Maltman, Nell; DaWalt, Leann Smith; Hong, Jinkuk; Baker, Mei Wang; Berry-Kravis, Elizabeth M; Brilliant, Murray H; Mailick, Marsha

Cross-sectional survey on genetic testing utilization and perceptions in Wisconsin Amish and Mennonite communities

威斯康星州阿米什人和门诺派社区基因检测利用情况及认知度的横断面调查

Williams, Katie B; Lasarev, Michael R; Baker, Mei; Seroogy, Christine M

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors

因免疫反应性胰蛋白酶原水平低于筛查阈值而漏诊的囊性纤维化新生儿筛查病例:一项全国性风险因素调查

Kharrazi, Martin; Sacramento, Charlene; Comeau, Anne Marie; Hale, Jaime E; Caggana, Michele; Kay, Denise M; Lee, Rachel; Reilly, Brendan; Thompson, John D; Nasr, Samya Z; Kleyn, Mary; Hoffman, Gary; Baker, Mei W; Clarke, Colleen; Harris, Cheryl L; Dorley, M Christine; Fryman, Hilary; Sutaria, Ankit; Hietala, Amy; Winslow, Holly; Richards, Holly; Therrell, Bradford L

Common Challenges and Identified Solutions for State Newborn Screening Programs during COVID-19 Pandemic

新冠疫情期间各州新生儿筛查项目面临的共同挑战及已确定的解决方案

Simon, Dylan; Broadbridge, Elizabeth; Baker, Mei; Gaviglio, Amy; Gruber, Dorota; Piper, Kimberly Noble; Tavakoli, Norma P; Sullivan, Jamie; Kennedy, Annie

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

采用负离子模式流动注射串联质谱法进行新生儿X连锁肾上腺脑白质营养不良筛查

Teber, Tarek A; Conti, Brian J; Haynes, Christopher A; Hietala, Amy; Baker, Mei W