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

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

Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum

COQ5相关原发性辅酶Q10缺乏症患儿的严重神经系统表现:不断扩展的临床和分子谱

Wongkittichote, Parith; Guerra, Rachel M; Wegner, Daniel J; Toy, Samantha; Hauer, Jacqueline A; Pagliarini, David J; Granadillo, Jorge L

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana

Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants

慢病毒介导的基因互补可挽救致病性ABCA3变体

Cooney, Ashley L; Lamer, Shakayla; Yang, Ping; Wegner, Daniel J; White, Frances V; Cole, F Sessions; Wohlford-Lenane, Chris; Hennessey, Erin; Bawa, Pushpinder; Kotton, Darrell N; Sinn, Patrick L; Wambach, Jennifer A; McCray, Paul B Jr

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

SREBF2 中的显性错义变异与复杂的皮肤病、神经系统疾病和骨骼疾病有关

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

SFTPB基因纯合子内串联重复导致新生儿呼吸衰竭

Wambach, Jennifer A; Wegner, Daniel J; Kitzmiller, Joseph; White, Frances V; Heins, Hillary B; Yang, Ping; Paul, Alexander J; Granadillo, Jorge L; Eghtesady, Pirooz; Kuklinski, Cadence; Turner, Tiffany; Fairman, Korre; Stone, Kristyne; Wilson, Theodore; Breman, Amy; Smith, Janice; Schroeder, Molly C; Neidich, Julie A; Whitsett, Jeffrey A; Cole, F Sessions

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

INTS11基因的双等位基因变异与一种复杂的神经系统疾病相关。

Tepe, Burak; Macke, Erica L; Niceta, Marcello; Weisz Hubshman, Monika; Kanca, Oguz; Schultz-Rogers, Laura; Zarate, Yuri A; Schaefer, G Bradley; Granadillo De Luque, Jorge Luis; Wegner, Daniel J; Cogne, Benjamin; Gilbert-Dussardier, Brigitte; Le Guillou, Xavier; Wagner, Eric J; Pais, Lynn S; Neil, Jennifer E; Mochida, Ganeshwaran H; Walsh, Christopher A; Magal, Nurit; Drasinover, Valerie; Shohat, Mordechai; Schwab, Tanya; Schmitz, Chris; Clark, Karl; Fine, Anthony; Lanpher, Brendan; Gavrilova, Ralitza; Blanc, Pierre; Burglen, Lydie; Afenjar, Alexandra; Steel, Dora; Kurian, Manju A; Prabhakar, Prab; Gößwein, Sophie; Di Donato, Nataliya; Bertini, Enrico S; Wangler, Michael F; Yamamoto, Shinya; Tartaglia, Marco; Klee, Eric W; Bellen, Hugo J