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

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site Study

培伐利司治疗青少年苯丙酮尿症:一项多中心研究

Hollander, Suzanne; Valli, Briana; Vucko, Erika; Lah, Melissa; Sanchez-Valle, Amarilis; Murray, Brittany M; Kritzer, Amy; Sacharow, Stephanie

Lessons learned from 5 years of pegvaliase in US clinics: A case series

从美国诊所使用培伐利司他5年的经验教训:病例系列

Cooney, Erin; Ammous, Zineb; Bender, Tricia; Clague, Gillian E; Clifford, Marilyn; Crutcher, Angela; Davis-Keppen, Laura; Havens, Kirsten; Lah, Melissa; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Vucko, Erika; Wardley, Bridget; Wessenberg, Leah; Andersson, Hans C

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

RBBP5 功能丧失导致与小头畸形相关的综合征性神经发育障碍

Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue; Undiagnosed Diseases Network; Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Raj

Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency

PHEFREE纵向自然史研究的初步结果:苯丙氨酸羟化酶(PAH)缺乏症患者队列的横断面观察

Christ, Shawn E; Arnold, Georgianne; Lichter-Konecki, Uta; Berry, Gerard T; Grange, Dorothy K; Harding, Cary O; Jurecki, Elaina; Levy, Harvey; Longo, Nicola; Morotti, Hadley; Sacharow, Stephanie; Thomas, Janet; White, Desiree A

The challenge of adults with phenylketonuria who have been lost to care; a single center's attempt to reach those diagnosed with PKU over 60 years of newborn screening

苯丙酮尿症成年患者失访的挑战;一家中心在60多年的新生儿筛查中,努力联系所有确诊为苯丙酮尿症的患者。

Sacharow, S; Zhu, E; Hollander, S

Patient voices on PKU care: Insights from focus groups with current and former patients

苯丙酮尿症患者对治疗的看法:来自当前和既往患者焦点小组的见解

Zhu, Emily; Hollander, Suzanne; Sacharow, Stephanie

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program

培伐利司治疗苯丙酮尿症:一项长期3期临床试验项目的最终结果

Harding, Cary O; Longo, Nicola; Northrup, Hope; Sacharow, Stephanie; Singh, Rani; Thomas, Janet A; Vockley, Jerry; Zori, Roberto T; Bulloch Whitehall, Kaleigh; Lilienstein, Joshua; Lindstrom, Kristin; Levy, Drew G; Jones, Shaun; Burton, Barbara K

Acanthamoeba castellanii alone is not a growth promoter for Hordeum vulgare

卡斯氏棘阿米巴单独不是大麦的生长促进剂

Sacharow, Julia; Ratering, Stefan; Schneider, Bellinda; Österreicher Cunha-Dupont, Alessandra; Schnell, Sylvia

Cercozoan diversity of spring barley grown in the field is strongly plant compartment specific

田间种植的春大麦中丝足虫的多样性具有很强的植物区室特异性。

Sacharow, Julia; Ratering, Stefan; Quiroga, Santiago; Geißler-Plaum, Rita; Schneider, Bellinda; Österreicher Cunha-Dupont, Alessandra; Schnell, Sylvia