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American Journal of Medical Genetics. Part A|April 8, 2015
Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 geneNatasha S Stembridge, Anthony M Vandersteen, Neeti Ghali, et al.American Journal of Medical Genetics. Part A|February 25, 2020
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndromeSandy Ayoub, Neeti Ghali, Chloe Angwin, et al.The Journal of Clinical Investigation|December 8, 2015
POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingRoland F R Schindler, Chiara Scotton, Jianguo Zhang, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 25, 2016
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndromeRuwan A Weerakkody, Jana Vandrovcova, Christina Kanonidou, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 24, 2020
Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragilityClaire Green, Neeti Ghali, Rhoda Akilapa, et al.American Journal of Human Genetics|May 31, 2003
Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.American Journal of Human Genetics|September 6, 2002
The gene for juvenile hyaline fibromatosis maps to chromosome 4q21Nazneen Rahman, Melanie Dunstan, M Dawn Teare, et al.American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.Pageof 10