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

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

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

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

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

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

Human pluripotent stem cell modeling of alveolar type 2 cell dysfunction caused by ABCA3 mutations

ABCA3 突变引起的肺泡 2 型细胞功能障碍的人类多能干细胞建模

Yuliang L Sun, Erin E Hennessey, Hillary Heins, Ping Yang, Carlos Villacorta-Martin, Julian Kwan, Krithi Gopalan, Marianne James, Andrew Emili, F Sessions Cole, Jennifer A Wambach, Darrell N Kotton

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

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

利用一种新的分析方法对9p染色体缺失综合征进行基因分型和表型分析

Starosta, Rodrigo Tzovenos; Jensen, Nathaniel; Couteranis, Sophia; Slaugh, Rachel; Easterlin, Dawn; Tate, Victoria; Sams, Eleanor I; Valle, Kostandin; Akinwe, Titilope; Hou, Ying-Chen Claire; Turner, Tychele N; Cole, F Sessions; Milbrandt, Jeffrey; Dickson, Patricia