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Molecular Genetics and Metabolism|January 1, 2025
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Marwan Shinawi, Daniel J Wegner, Alexander J Paul, et al.
American Journal of Respiratory and Critical Care Medicine|July 18, 2023
Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary DysplasiaMinzhe Guo, Kathryn A Wikenheiser-Brokamp, Joseph A Kitzmiller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2024
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalitiesMatthew J Moulton, Kristhen Atala, Yiming Zheng, et al.
Human Mutation|July 21, 2017
Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN)Jennifer A Wambach, Georg M Stettner, Tobias B Haack, et al.
Ebiomedicine|March 1, 2025
Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related diseaseCamille Louvrier, Tifenn Desroziers, Yohan Soreze, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2022
A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein CHuiyan Huang, Jiehong Pan, David R Spielberg, et al.
Pediatric Pulmonology|April 1, 2025
Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung DiseasesLaura A Voss, Rebekah J Nevel, Jennifer A Wambach, et al.
Human Molecular Genetics|December 30, 2025
Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmiaHieu D Hoang, Rebecca C Spillmann, Daniel J Wegner, et al.
Cell Reports|September 1, 2021
Patient-specific iPSCs carrying an SFTPC mutation reveal the intrinsic alveolar epithelial dysfunction at the inception of interstitial lung diseaseKonstantinos-Dionysios Alysandratos, Scott J Russo, Anton Petcherski, et al.
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