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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 28, 2025
C-type natriuretic peptide and collagen X marker are aberrant in skeletal dysplasiasRicki S Carroll, Robert C Olney, Angela L Duker, et al.
Bone|July 16, 2023
Identification of potential non-invasive biomarkers in diastrophic dysplasiaChiara Paganini, Ricki S Carroll, Chiara Gramegna Tota, 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.
American Journal of Human Genetics|November 4, 2023
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiationJonathan J Rios, Yang Li, Nandina Paria, et al.
American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
Human Mutation|October 15, 2013
Extreme growth failure is a common presentation of ligase IV deficiencyJennie E Murray, Louise S Bicknell, Gökhan Yigit, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2026
RNU4ATAC-opathy: Clinical, molecular and transcriptomic insights from a large cohortDena R Matalon, Angela L Duker, Taylor M Arriaga, et al.
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