| Title | Author(s) | Year | View Count |
 | COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid | Ho, MSP; Tsang, KY; Lo, RLK; Susic, M; Mäkitie, O; Chan, TWY; Ng, VCW; Sillence, DO; BootHandford, RP; Gibson, G; Cheung, KMC; Cole, WG; Cheah, KSE; Chan, D | 2007 | 124 |
| Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened α2(I) chains show differential incorporation into the bone and skin extracellular matrix | Mundlos, S; Chan, D; Weng, YM; Sillence, DO; Cole, WG; Bateman, JF | 1996 | 80 |
| Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the α2(I) chain of type I collagen | Cole, WG; Chan, D; Chow, CW; Rogers, JG; Bateman, JF | 1996 | 74 |
| Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the proα1(I) chain carboxyl-terminal propeptide which impair subunit assembly | Lamande, SR; Chessler, SD; Golub, SB; Byers, PH; Chan, D; Cole, WG; Sillence, DO; Bateman, JF | 1995 | 73 |
| A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage | Chan, D; Cole, WG; Chow, CW; Mundlos, S; Bateman, JF | 1995 | 65 |
| Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia | Chan, D; Cole, WG; Rogers, JG; Bateman, JF | 1995 | 76 |
| Recurrent substitutions of arginine 789 by cysteine in pro-α1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita | Chan, D; Rogers, JF; Bateman, JF; Cole, WG | 1995 | 53 |
| A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated proα1(I) chains with a non-collagenous insertion destabilizing the triple helix | Bateman, JF; Chan, D; Moeller, I; Hannagan, M; Cole, WG | 1994 | 89 |
| Characterization of an arginine 789 to cysteine substitution in α1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia | Chan, D; Taylor, TKF; Cole, WG | 1993 | 56 |
| Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity | Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG | 1992 | 76 |
| Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch | Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG | 1992 | 82 |
| Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells: Application to the characterization of a glycine 997 to serine substitution in α1(II) collagen chains of a patient with spondyloepiphyseal dysplasia | Chan, D; Cole, WG | 1991 | 58 |
| Characterization of a type I collagen α2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method | Bateman, JF; Hannagan, M; Chan, D; Cole, WG | 1991 | 47 |
| A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV | Cole, WG; Chiodo, AA; Lamande, SR; Janeczko, R; Ramirez, F; Dahl, HHM; Chan, D; Bateman, JF | 1990 | 70 |
| Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro | Chan, D; Lamande, SR; Cole, WG; Bateman, JF | 1990 | 55 |
| Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients | Harley, VR; Chan, D; Rogers, JG; Cole, WG | 1990 | 72 |
| A frameshift mutation results in a truncated nonfunctional carboxyl-terminal Proα1(I) propeptide of type I collagen in osteogenesis imperfecta | Bateman, JF; Lamande, SR; Dahl, HHM; Chan, D; Mascara, T; Cole, WG | 1989 | 57 |
| Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of α1(I)-chain glycine-to-arginine substitutions | Baker, AT; Ramshaw, RAM; Chan, D; Cole, WG; Bateman, JF | 1989 | 68 |
| A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos Syndrome Type VII | Weil, D; D'alessio, M; Ramirez, F; De Wet, W; Cole, WG; Chan, D; Bateman, JF | 1989 | 72 |
| Substitution of arginine for glycine 664 in the collagen α1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA | Bateman, JF; Lamande, SR; Dahl, HHM; Chan, D; Cole, WG | 1988 | 72 |
