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

Newborn screening for Duchenne muscular dystrophy: A two-year pilot study

新生儿杜氏肌营养不良症筛查:一项为期两年的试点研究

Tavakoli, Norma P; Gruber, Dorota; Armstrong, Niki; Chung, Wendy K; Maloney, Breanne; Park, Sunju; Wynn, Julia; Koval-Burt, Carrie; Verdade, Lorraine; Tegay, David H; Cohen, Lilian L; Shapiro, Natasha; Kennedy, Annie; Noritz, Garey; Ciafaloni, Emma; Weinberger, Barry; Ellington, Marty Jr; Schleien, Charles; Spinazzola, Regina; Sood, Sunil; Brower, Amy; Lloyd-Puryear, Michele; Caggana, Michele

Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic

为应对新冠疫情,改进新生儿筛查试点研究的招募工作

Wynn, Julia; Tavakoli, Norma P; Armstrong, Niki; Gomez, Jacqueline; Koval, Carrie; Lai, Christina; Tang, Stephanie; Quevedo Prince, Andrea; Quevedo, Yeyson; Rufino, Katrina; Palacio Morales, Laura; Pena, Angela; Grossman, Sharon; Monfiletto, Mary; Ruda, Erika; Jimenez, Vania; Verdade, Lorraine; Jones, Ashley; Barriga, Michelle G; Karan, Nandanee; Puma, Alexandria; Sarker, Safa; Chin, Sarah; Duarte, Kelly; Tegay, David H; Bacchus, Irzaud; Julooru, Rajani; Maloney, Breanne; Park, Sunju; Saami, Akilan M; Cohen, Lilian; Shapiro, Natasha; Caggana, Michele; Chung, Wendy K; Gruber, Dorota

Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells

基于循环外周血单个核细胞流式变异分析预测乳腺癌风险

Johnny Loke, Ishraq Alim, Sarah Yam, Susan Klugman, Li C Xia, Dorota Gruber, David Tegay, Andrea LaBella, Kenan Onel, Harry Ostrer

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Steel综合征创始等位基因的功能生物学及COL27A1致病等位基因在全球范围内的家族基因组学起源证据

Gonzaga-Jauregui, Claudia; Yesil, Gozde; Nistala, Harikiran; Gezdirici, Alper; Bayram, Yavuz; Nannuru, Kalyan C; Pehlivan, Davut; Yuan, Bo; Jimenez, Johanna; Sahin, Yavuz; Paine, Ingrid S; Akdemir, Zeynep Coban; Rajamani, Saathyaki; Staples, Jeffrey; Dronzek, John; Howell, Kristen; Fatih, Jawid M; Smaldone, Silvia; Schlesinger, Alan E; Ramírez, Norman; Cornier, Alberto S; Kelly, Melissa A; Haber, Robert; Chim, Shek Man; Nieman, Kristy; Wu, Nan; Walls, Johnathon; Poueymirou, William; Siao, Chia-Jen; Sutton, V Reid; Williams, Marc S; Posey, Jennifer E; Gibbs, Richard A; Carlo, Simon; Tegay, David H; Economides, Aris N; Lupski, James R

Precision oncology: lessons learned and challenges for the future

精准肿瘤学:经验教训与未来挑战

Yang, Hsih-Te; Shah, Ronak H; Tegay, David; Onel, Kenan

KBG syndrome involving a single-nucleotide duplication in ANKRD11

KBG 综合征涉及 ANKRD11 中的单核苷酸重复

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J Lyon

SCN8A mutation in a child presenting with seizures and developmental delays

一名儿童出现癫痫和发育迟缓,出现 SCN8A 突变

Janet Malcolmson, Robert Kleyner, David Tegay, Whit Adams, Kenneth Ward, Justine Coppinger, Lesa Nelson, Miriam H Meisler, Kai Wang, Reid Robison, Gholson J Lyon