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

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

Interstitial Lung Disease and Lung Cancer Associated with a Monoallelic Novel Variant in SFTPB

间质性肺病和肺癌与SFTPB基因中的单等位基因新变异相关

Wambach, Jennifer A; Nogee, Lawrence M; Spielberg, David R; Cole, F Sessions; Roberts, Dion M; Murphy, Scarlett; Garcia, Christine K

Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.

儿童间质性肺病中的双等位基因 LAMP3 变异:一种与表面活性剂相关的疾病

Louvrier Camille, Desroziers Tifenn, Soreze Yohan, Delgado Rodriguez Martha, Thomas Lucie, Nau Valérie, Dastot-Le Moal Florence, Bernstein Jonathan A, Cole F Sessions, Damme Markus, Fischer Anthony, Griese Matthias, Hinds Daniel, Keehan Laura, Milla Carlos, Mohammad Hadhud, Rips Jonathan, Wambach Jennifer A, Wegner Daniel J, Amselem Serge, Legendre Marie, Giurgea Irina, Karabina Sonia Athina, Breuer Oded, Coulomb l'Herminé Aurore, Nathan Nadia

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A

Profiling the developmental signatures of genetic global developmental delay

分析遗传性全面发育迟缓的发育特征

Metzler, Marina; Vesoulis, Zachary A; Wambach, Jennifer A

Setting incentives right with long-term risk adjustment

通过长期风险调整来正确设定激励机制

Reif, Simon; Schubert, Sabrina; Wambach, Achim

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

美国儿童间质性和弥漫性肺疾病登记中基因检测的应用

Voss, Laura A; Nevel, Rebekah J; Wambach, Jennifer A; Nogee, Lawrence M; Deterding, Robin R; Casey, Alicia M; O'Connor, Michael G; Craven, Daniel I; Taylor, Jane B; Deutsch, Gail H; Tam-Williams, Jade B; Steffes, Lea C; Brennan, Steven K; Santiago, Maria T; Sadreameli, Sara C; Heras, Andrea F; Powers, Michael R; Popova, Antonia P; Bansal, Manvi; Hamvas, Aaron; Gower, William A; Urrego, Fernando; Young, Lisa R

A Health Behavior and Lifestyle Intervention Pilot Trial for Childbearing Adolescents

针对育龄青少年的健康行为和生活方式干预试点试验

Wambach, Karen; Davis, Ann M; Nelson, Eve-Lynn; Romine, Rebecca Swinburne; Romero, Karman; Muzzy, Rachel; Murray, Megan; Bakula, Dana

Genetic Disorders of Surfactant Metabolism

表面活性剂代谢的遗传性疾病

Nevel, Rebekah J; Brennan, Steven K; Wambach, Jennifer A