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

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序技术,在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。

Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T

Lethal neonatal acidosis: Multiomic investigation of a novel HIBCH variant as the underlying cause

致命性新生儿酸中毒:多组学研究发现一种新型HIBCH变异体是其根本原因

Patel, Sonali; Zain-Ul-Abideen, Muhammad; Guyol, Genevieve; Rodan, Lance H; Genetti, Casie A; Ren, Amy Z; Connors, Philip; Davenport, Patricia; Bartolome, Ruby; Sahai, Inderneel; Ganesh, Vijay S; Wojcik, Monica H

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

携带IDUA假性缺陷等位基因个体的长期健康结局或可为I型粘多糖贮积症的新生儿筛查提供参考。

Grady, Lauren O; Zoltick, Emilie S; Zouk, Hana; He, Wei; Perez, Emma; Clarke, Lorne; Gold, Jessica; Strong, Alanna; Sahai, Inderneel; Yeo, Julie; Green, Robert C; Karaa, Amel; Gold, Nina B

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

对逃脱无义介导衰变机制的变异体进行系统分析,揭示了候选孟德尔疾病

Torene, Rebecca I; Guillen Sacoto, Maria J; Millan, Francisca; Zhang, Zhancheng; McGee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L; Ledbetter, David H; Myers, Scott M; Mitchell, Kevin J; Retterer, Kyle

Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

早期发现肾上腺功能不全:新生儿肾上腺脑白质营养不良筛查的影响

Ramirez Alcantara, Jonanlis; Grant, Natalie R; Sethuram, Swathi; Nagy, Amanda; Becker, Catherine; Sahai, Inderneel; Stanley, Takara; Halper, Alyssa; Eichler, Florian S

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts

马萨诸塞州新生儿严重联合免疫缺陷病 (SCID) 筛查十年

Hale, Jaime E; Platt, Craig D; Bonilla, Francisco A; Hay, Beverly N; Sullivan, John L; Johnston, Alicia M; Pasternack, Mark S; Hesterberg, Paul E; Meissner, H Cody; Cooper, Ellen R; Barmettler, Sara; Farmer, Jocelyn R; Fisher, Donna; Walter, Jolan E; Yang, Nancy J; Sahai, Inderneel; Eaton, Roger B; DeMaria, Alfred; Notarangelo, Luigi D; Pai, Sung-Yun; Comeau, Anne Marie

Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

马萨诸塞州全州新生儿脊髓性肌萎缩症筛查结果

Hale, Jaime E; Darras, Basil T; Swoboda, Kathryn J; Estrella, Elicia; Chen, Jin Yun Helen; Abbott, Mary-Alice; Hay, Beverly N; Kumar, Binod; Counihan, Anne M; Gerstel-Thompson, Jacalyn; Sahai, Inderneel; Eaton, Roger B; Comeau, Anne Marie

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

精氨酸与鸟氨酸比值作为新生儿高精氨酸血症筛查阳性患者的诊断标志物

Huang, Yue; Sharma, Rajesh; Feigenbaum, Annette; Lee, Chung; Sahai, Inderneel; Sanchez Russo, Rossana; Neira, Juanita; Brooks, Susan Sklower; Jackson, Kelly E; Wong, Derek; Cederbaum, Stephen; Lacbawan, Felicitas L; Rowland, Charles M; Tanpaiboon, Pranoot; Salazar, Denise

The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation

肝移植后丙酸血症合并心肌病复发

Berry, Gerard T; Blume, Elizabeth D; Wessel, Ann; Singh, Tajinder; Hecht, Leah; Marsden, Deborah; Sahai, Inderneel; Elisofon, Scott; Ferguson, Michael; Kim, Heung Bae; Harris, David J; Demirbas, Didem; Almuqbil, Mohammed; Nyhan, William L

Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy

阿富汗一个患有 III 型 3-甲基戊二酸尿症和视神经萎缩的家族中发现一种新的纯合 OPA3 突变

Gaier, Eric D; Sahai, Inderneel; Wiggs, Janey L; McGeeney, Brian; Hoffman, Jodi; Peeler, Crandall E