Associated Papers
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data
Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.
Stover DA et al.
Genes, 2022
35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S2._DAMs
Osteogenesis imperfecta type III/Ehlers-Danlos overlap syndrome in a Chinese man.
Lu Y et al.
Intractable & Rare Diseases Research, 2018
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2016
Select a paper to view details