William Graham Cole

William Graham Cole's AcademicInfluence.com Rankings

William Graham Cole

Biology

#13629

World Rank

#17183

Historical Rank

Developmental Biology

#183

World Rank

#191

Historical Rank

Genetics

#1525

World Rank

#1628

Historical Rank

Molecular Biology

#2322

World Rank

#2357

Historical Rank

biology Degrees

Download Badge

Biology

William Graham Cole's Degrees

Bachelors Biology Stanford University

Similar Degrees You Can Earn

Best Online Bachelor's in Biology 2026

Why Is William Graham Cole Influential?

(Suggest an Edit or Addition)

(See a Problem?)

William Graham Cole's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia (1997) (1549)
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. (2013) (288)
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. (1996) (278)
Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow-up. (2002) (264)
A mutant PTH/PTHrP type I receptor in enchondromatosis (2002) (240)
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. (2003) (195)
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. (1984) (192)
Heterozygous Mutations in the LDL Receptor‐Related Protein 5 (LRP5) Gene Are Associated With Primary Osteoporosis in Children (2005) (179)
Collagen composition of normal and myxomatous human mitral heart valves. (1984) (169)
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets. (2003) (168)
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. (1998) (167)
Open fractures of the tibia in children. (1992) (154)
Reliability of radiological measurements in the assessment of the child's hip. (1989) (151)
Mutation analysis of LMX1B gene in nail-patella syndrome patients. (1998) (147)
Resection for symptomatic talocalcaneal coalition. (1994) (146)
Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. (1984) (139)
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (2005) (139)
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 (*) (1995) (135)
Normal characteristics of the Baumann (humerocapitellar) angle: an aid in assessment of supracondylar fractures. (1992) (130)
Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro. (1990) (129)
Mutations in TRPV4 cause an inherited arthropathy of hands and feet (2011) (126)
Dislocation of the hip in cerebral palsy. Natural history and predictability. (1989) (122)
The anterior tibial vessels and their role in epiphyseal and diaphyseal transfer of the fibula: experimental study and clinical applications. (1988) (120)
Chronic multifocal osteomyelitis. (1993) (116)
Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues. (1998) (115)
COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. (2000) (113)
COMP mutations, chondrocyte function and cartilage matrix. (2005) (107)
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. (1998) (105)
Structural abnormalities of the cornea and lid resulting from collagen V mutations. (2006) (104)
Avascular necrosis following closed reduction of congenital dislocation of the hip. Review of influencing factors and long-term follow-up. (1990) (103)
Collagen defects in lethal perinatal osteogenesis imperfecta. (1986) (101)
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. (1989) (99)
Effect of early hip decompression on the frequency of avascular necrosis in children with fractures of the neck of the femur. (1996) (97)
Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia. (1993) (95)
Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis. (2005) (93)
Low density lipoprotein receptor‐related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia (2010) (91)
Three Weeks of Kirschner Wire Fixation for Displaced Lateral Condylar Fractures of the Humerus in Children (2001) (90)
A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I) (1996) (90)
Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII. (1986) (86)
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity (2012) (85)
Idiopathic Toe‐Walking: Does Treatment Alter the Natural History? (2000) (85)
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. (2001) (83)
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate (2004) (83)
A COL2A1 Mutation in Achondrogenesis Type II Results in the Replacement of Type II Collagen by Type I and III Collagens in Cartilage (*) (1995) (83)
Treatment of Aneurysmal Bone Cysts in Childhood (1986) (79)
Autoantibodies to type II collagen: occurrence in rheumatoid arthritis, other arthritides, autoimmune connective tissue diseases, and chronic inflammatory syndromes. (1988) (77)
Osteolysis after biodegradable pin fixation of fractures in children. (1992) (76)
Eosinophilic granuloma. A different behaviour in children than in adults. (2002) (76)
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 (*) (1995) (75)
Incomplete healing of simple bone cysts after steroid injections. (1997) (75)
Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W (2003) (74)
Biodegradable pin fixation of elbow fractures in children. A randomised trial. (1992) (70)
Avascular Necrosis After Open Reduction for Congenital Dislocation of the Hip: Analysis of Causative Factors and Natural History (1989) (70)
Medial physeal stapling for primary and secondary genu valgum in late childhood and adolescence. (1995) (70)
Treatment of subacute osteomyelitis in childhood. (1985) (68)
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 (2005) (68)
Open fractures of the arm in children. (1995) (68)
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. (2007) (67)
Perinatal lethal osteogenesis imperfecta. (1995) (67)
Advances in osteogenesis imperfecta. (2002) (66)
Ehlers-Danlos syndrome type VII: clinical features and molecular defects. (1999) (65)
Isolated fractures of the lesser trochanter in children. (1997) (65)
Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen. (1987) (64)
The predictability of acetabular development after closed reduction for congenital dislocation of the hip. (1988) (64)
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 alpha 1(II) collagen chains of a patient with spondyloepiphyseal dysplasia. (1991) (63)
The natural history of hip deformity in myelomeningocele. (1993) (62)
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (2001) (62)
Reduced type I collagen utilization: A pathogenic mechanism in COL5A1 haplo‐insufficient Ehlers–Danlos syndrome (2004) (62)
A shortened course of parenteral antibiotic therapy in the management of acute septic arthritis of the hip. (2000) (61)
Tibia vara caused by focal fibrocartilaginous dysplasia. Three case reports. (1985) (60)
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients (2004) (59)
Surgical treatment of double major scoliosis. Improvement of the lumbar curve after fusion of the thoracic curve. (1991) (58)
HOXD10 M319K mutation in a family with isolated congenital vertical talus (2006) (58)
A frameshift mutation results in a truncated nonfunctional carboxyl-terminal pro alpha 1(I) propeptide of type I collagen in osteogenesis imperfecta. (1989) (58)
Multiexon Deletions in the Type I Collagen COL1A2 Gene in Osteogenesis Imperfecta Type (1996) (57)
Idiopathic Scoliosis in Families of Children With Congenital Scoliosis (2002) (56)
Early plaster treatment for fractures of the femoral shaft in childhood. (1987) (56)
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double‐layer patella as a reliable sign (2003) (56)
Development of the hip in multiple epiphyseal dysplasia. Natural history and susceptibility to premature osteoarthritis. (1990) (55)
Reevaluation of a genetic model for the development of exostosis in hereditary multiple exostosis. (2002) (55)
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis. (2007) (54)
Induction of procollagen processing in fibroblast cultures by neutral polymers. (1986) (54)
Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia (2004) (53)
Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. (1989) (53)
Unicameral Bone Cysts: Comparison of Percutaneous Curettage, Steroid, and Autologous Bone Marrow Injections (2011) (53)
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) (2011) (52)
Heparan sulfate abnormalities in exostosis growth plates. (2002) (51)
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations—findings in 10 patients (2005) (50)
Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes. (2005) (50)
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. (1990) (50)
Treatment of ipsilateral supracondylar and forearm fractures in children. (1992) (50)
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation (2010) (50)
Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin‐like repeats of cartilage oligomeric matrix protein (1997) (49)
Collagen genes: mutations affecting collagen structure and expression. (1994) (49)
The Nicholas Andry Award-1996. The molecular pathology of osteogenesis imperfecta. (1997) (46)
The paediatric cervical seat belt syndrome. (1993) (43)
Epiphyseolysis for partial growth plate arrest. Results after four years or at maturity. (1989) (42)
A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). (1996) (41)
The Ilizarov Method for Correction of Complex Deformities. Psychological and Functional Outcomes* (1996) (39)
Correction of coxa vara in childhood. The use of Pauwels' Y-shaped osteotomy. (1991) (39)
Biodegradable pin fixation of elbow fractures in children. A randomised trial (1991) (38)
Neurological manifestations of osteoid osteoma. (1990) (37)
Quantitation of type I and III collagens using electrophoresis of alpha chains and cyanogen bromide peptides. (1984) (36)
Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity. (1992) (36)
Cytoskeletal Abnormalities in Chondrocytes with EXT1 and EXT2 Mutations (2000) (35)
Treatment of Open Femur Fractures in Children: Comparison Between External Fixator and Intramedullary Nailing (2007) (35)
COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II* (2001) (34)
Rapid fractionation of collagen chains and peptides by high-performance liquid chromatography. (1986) (34)
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. (1992) (34)
Treatment of aneurysmal bone cysts with saucerization and bone marrow injection in children. (1999) (34)
The Ilizarov method for correction of complex deformities. Psychological and functional outcomes. (1996) (34)
Heritable bone fragility, joint laxity and dysplastic dentin in Friesian calves: a bovine syndrome of osteogenesis imperfecta. (1983) (32)
The clinical features of spondyloepiphyseal dysplasia congenita resulting from the substitution of glycine 997 by serine in the alpha 1(II) chain of type II collagen. (1993) (32)
Tardy displacement of traumatic radial head dislocation in childhood. (1999) (32)
Noncollagenous proteins in normal and pathological human bone (1984) (31)
Treatment of selected extension supracondylar fractures of the humerus by manipulation and strapping in flexion. (1993) (31)
Three additional cases of focal fibrocartilaginous dysplasia causing tibia vara. (1990) (31)
The Miller procedure for mobile flat feet. (1995) (30)
Risk of Refracture Through Unicameral Bone Cysts of the Proximal Femur (2002) (30)
The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen. (1987) (30)
Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH. (2004) (29)
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis. (2012) (27)
The clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen. (1990) (26)
Precipitation of collagens by polyethylene glycols. (1984) (26)
Potential Treatment for Clubfeet Based on Growth Factor Blockade (2001) (26)
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations (2005) (26)
Flexion supracondylar fractures of the humerus in children: treatment by manipulation and extension cast. (1991) (26)
Incomplete Healing of Simple Bone Cysts After Steroid Injections (1997) (25)
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. (1994) (25)
Management of subtrochanteric fractures of the femur in children. (1998) (25)
Pes anserinus syndrome due to solitary tibial spurs and osteochondromas. (1996) (25)
Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. (1988) (24)
Analysis of the heterogeneity of human collagens by two-dimensional polyacrylamide-gel electrophoresis. (1981) (24)
A structural mutation of the collagen alpha 1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta. (1987) (23)
Human collagen 'fingerprints' produced by clostridopeptidase A digestion and high-pressure liquid chromatography. (1977) (23)
Pseudo-Volkmann's contracture due to tethering of flexor digitorum profundus to fractures of the ulna in children. (1998) (22)
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons. (2000) (22)
A graphic method for timing the correction of leg-length discrepancy. (1995) (22)
Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta. (1993) (22)
Early surgical management of severe forms of osteogenesis imperfecta. (1993) (22)
The management of chronic osteomyelitis. (1991) (21)
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia (2003) (21)
AVASCULAR NECROSIS FOLLOWING CLOSED REDUCTION OF CONGENITAL DISLOCATION OF THE HIP. REVIEW OF INFLUENCING FACTORS AND LONG-TERM FOLLOW-UP (1991) (20)
Analysis of collagen cyanogen bromide peptides using electrophoresis in continuous concave gradient polyacrylamide gels. (1979) (20)
Periprosthetic bone remodelling around a prosthesis for distal femoral tumours (2000) (19)
Periprosthetic bone remodelling around a prosthesis for distal femoral tumours. Measurement by dual-energy X-ray absorptiometry (DEXA). (2000) (19)
A comparison of prilocaine and lidocaine for intravenous regional anaesthesia for forearm fracture reduction in children (2002) (19)
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene. (2008) (19)
Changes in collagen stability and folding in lethal perinatal osteogenesis imperfecta. The effect of alpha 1 (I)-chain glycine-to-arginine substitutions. (1989) (17)
Congenital dislocation of the patella. (2005) (17)
Plant thorn synovitis. Resolution following total synovectomy. (1990) (17)
CORRECFION OF COXA VARA IN CHILDHOOD (1991) (17)
Bone Matrix and Mineralization (2012) (17)
The clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissues. (1990) (17)
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations (2005) (17)
Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method. (1991) (16)
Comprehensive analysis of collagen metabolism in vitro using [4(3H)]/[14C]proline dual-labeling and polyacrylamide gel electrophoresis. (1988) (16)
SURGICAL TREATMENT OF DOUBLE MAJOR SCOLIOSIS (1991) (16)
Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita. (1995) (16)
Treatment of early-acute osteomyelitis in childhood: brief report. (1987) (16)
Torticollis due to a combination of sternomastoid contracture and congenital vertebral anomalies. (1989) (16)
Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics (2012) (16)
An angiostatic agent in treatment of a recurrent aneurysmal bone cyst. (1993) (15)
Alternative splicing of exon 37 of FBN1 deletes part of an ‘eight‐cysteine’ domain resulting in the Marfan syndrome (1999) (15)
Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-alpha1(V) C-propeptide. (2010) (15)
Function after partial pelvic resection for Ewing's sarcoma. (1987) (15)
Cell-layer-associated proteolytic cleavage of the telopeptides of type I collagen in fibroblast culture. (1987) (15)
Early‐onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame‐shift mutation and impaired trimerization of wild‐type α1(X) protein chains (2010) (14)
The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagen. (1992) (13)
Alternative splicing of exon 12 of the COL2A1 gene interrupts the triple helix of type‐II collagen in the kniest form of spondyloepiphyseal dysplasia (1996) (13)
Clofibrate and Fat Embolism: A Double-Blind Trial of the Effects of Clofibrate on Sequelae to Injury (1971) (13)
Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin‐like repeat of cartilage oligomeric matrix protein (1998) (13)
Arachnoid cyst and chronic subdural haematoma in a child with osteogenesis imperfecta type III resulting from the substitution of glycine 1006 by alanine in the pro alpha 2(I) chain of type I procollagen. (1996) (13)
Randomized double-blind trial of low- and moderate-dose lidocaine regional anesthesia for forearm fractures in childhood. (1996) (13)
The management of septic arthritis in childhood. (1975) (12)
A novel G1006A substitution in the α2(I) chain of type I collagen produces osteogenesis imperfecta type III (1995) (12)
Factors predicting the outcome of primary clubfoot surgery. (2006) (12)
Abnormal Skeletal Growth in Kniest Dysplasia Caused by Type II Collagen Mutations (1997) (11)
Giant Cell Reparative Granuloma of the Humerus (1988) (11)
Two-dimensional assays of peptide fragments. (1987) (11)
NATURAL HISTORY AND PREDICTABILITY (1989) (11)
Biochemical Heterogeneity of Type I Collagen Mutations in Osteogenesis Imperfecta a (1988) (11)
The place of threaded pin fixation in the treatment of slipped upper femoral epiphysis. (1987) (11)
Three-dimensional CT reconstruction of the scapula in the management of a child with a displaced intra-articular fracture of the glenoid. (1994) (10)
Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. (2001) (10)
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 (1992) (9)
Tissue expansion in the lower limbs of children and young adults. (1990) (9)
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta identify a key WNT ligand regulating bone mass (2013) (9)
Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. (1991) (9)
Impairment and activity limitation associated with epiphyseal dysplasia in children. (2004) (9)
Evaluation of a Teaching Model for the Early Diagnosis of Congenital Dislocation of the Hip (1983) (9)
Neurofibromatosis in childhood. (1978) (8)
9 Osteogenesis imperfecta (1988) (8)
Intravenous regional anaesthesia for the treatment of upper limb injuries in childhood. (1986) (8)
Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen. (1996) (8)
Demonstration of the interaction of transforming growth factor beta 2 and type X collagen using a modified tandem affinity purification tag. (2008) (7)
Respiratory sequels to non-thoracic injury. (1972) (7)
Ovine skin collagen dysplasia. (1982) (7)
Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. (1995) (7)
Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers–Danlos syndrome (2008) (6)
Correlation of clinical and molecular biological abnormalities in osteogenesis imperfecta. (1989) (5)
Recurrent Transition at a CG Dinucleotide in Exon 12 of COL2A1 Produces Kniest Dysplasia with Abnormal RNA Splicing by Chondrocytes and Lymphoblasts and Interruption of the Triple Helix of Type II Collagen a (1996) (5)
Substitution of Arginine for Glycine 664 in the Collagen d(1) Chain in Lethal Perinatal (1988) (5)
The Study of Collagen Structure and Function by Site‐Directed Mutagenesis of Collagen Genes a (1990) (5)
Urinary-free amino acids in osteogenesis imperfecta. (1986) (5)
Abnormal extracellular matrix in Ehlers‐Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen (1996) (5)
Arterial injuries associated with fractures of the lower limbs in childhood (1981) (4)
Prosthetic programme after above-knee amputation in children with sarcomata. (1982) (4)
THE ASSESSMENT OF THE CHILD'S HIP (1989) (4)
The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix. (1996) (4)
A mutation in the conserved NC1 domain of type X collagen prevents in vitro multimer assembly resulting in a Schmid-type metaphyseal chondrodysplasia (1994) (4)
Collagen Protein Abnormalities Produced by Site-Directed Mutagenesis of the Proal(I) Gene (1989) (4)
Bone, Cartilage, and Fibrous Tissue Disorders (2010) (4)
New insights into the molecular pathology of osteogenesis imperfecta. (1989) (4)
Deletion of 24 Amino Acids from the Prod ( 1 ) Chain of Type I Procollagen in a Patient with the Ehlers-Danlos Syndrome Type VII * (2001) (4)
A novel G499D substitution in the α1(III) chain of type III collagen produces variable forms of Ehlers‐Danlos syndrome type IV (1996) (3)
Surgery in osteogenesis imperfecta. (1995) (3)
Chapter 54 – Primary Disorders of Connective Tissue (2016) (3)
CHAPTER 1 – Structure of Growth Plate and Bone Matrix (2003) (3)
Advances in osteogenesis imperfecta : Genetics of childhood diseases (2002) (3)
Genes and orthopaedics (1999) (3)
Olpadronate reduced fractures in children with osteogenesis imperfecta. (2004) (3)
Surgery in Osteogenesis lmperfecta (1995) (3)
Missense mutations in the b strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia (2004) (3)
Peptide analysis of collagen produced from cDNA by transcription and translation in vitro. (1987) (3)
i) The challenge of genetics (2000) (2)
Acrogeric Ehlers-Danlos type IV due to a novel heterozygous G499D substitution in the α1(III) chain of type III collagen (1994) (2)
Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia (1998) (2)
Arterial injuries associated with fractures of the lower limbs in childhood. (1981) (2)
Osteogenesis imperfecta. (1988) (2)
Urinary fat and fat embolism. (1973) (2)
Regulation and organization of connective tissues. (1988) (2)
Skin petechiae and fat embolism. (1973) (1)
Concurrent paediatric seat belt injuries of the abdomen and spine (1992) (1)
Theclinical features ofosteogenesis imperfecta resulting froma non-functional carboxy terminal proal(I) propeptide oftypeIprocollagen anda severe deficiency ofnormal typeIcollagen intissues (1990) (1)
Color Atlas of Inherited Connective Tissue Disorders (1996) (1)
A Structural Mutation of the Collagen d(I)CB7 Peptide in Lethal Perinatal Osteogenesis Imperfects" (2001) (0)
Early and continuing management of congenital limb deficiencies. (1979) (0)
L 03 Syndecans as regulators of adhesion in normal and transformed cells (2012) (0)
Skeletal dysplasias and disorders of cartilage matrix (1992) (0)
Genetics, embryology, and pathology (1992) (0)
Osteogenesis-imperfecta and mutations in collagen genes (1992) (0)
ASSESSMENT OF THE SPRENGEL DEFORMITY USING 3D CT SCANNING AND ITS IMPLICATIONS FOR SURGICAL PLANNING (2005) (0)
Theclinical features ofspondyloepiphyseal dysplasia congenita resulting fromthe substitution ofglycine 997byserine inthe cl(II) chain oftypeIIcollagen (1993) (0)
Ehlers-Danlos syndrome typeIV:phenotypic consequencesof a splicingmutation inone (2017) (0)
108 A NOVEL COL1A1 MUTATION IN INFANTILE CORTICAL HYPEROSTOSIS (CAFFEY DISEASE) EXPANDS THE SPECTRUM OF COLLAGEN-RELATED DISORDERS (2005) (0)
Surgical principles related to paediatric congenital and acquired upper and lower limb amputations (1998) (0)
mutation R 279 W DTDST homozygotes for ( rMED ) : phenotype delineation in eighteen Recessive multiple epiphyseal dysplasia (2002) (0)
FRACTURES OF THE ARM IN CHILDREN (0)
Neurological manifestations ofosteoid osteoma (1990) (0)
No disease-causing mutations in LRP6 or PTHrP found in 26 patients with juvenile idiopathic osteoporosis (2008) (0)
Early management of congenital limb deficiencies. (1979) (0)
Mutations in the aggrecan gene (ACAN) are associated with multiple epiphyseal dysplasia (2009) (0)
Genes and orthopaedics. (1999) (0)
Orthopædic Aspects of Arterial Injuries Associated with Lower Limb Fractures1 (1974) (0)
A universal hip spica pedestal. (1997) (0)
Truncated α1(X) chains retaining NC1 domain sequences for chain association but lacking seqeunces for stabilization of type X collagen trimers produce Schmid metaphyseal chondrodysplasia (1996) (0)
Osteogenesis imperfecta due to a novel heterozygous G1006A substitution in the α2(I) chain of type I collagen (1994) (0)
Skeletal Dysplasias Reveal Genes of Importance in Skeletal Development and Structure (2003) (0)
1979: Affiliation with the Paediatric Research Society of Australia and a Change in Format (1979) (0)
Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5 (2009) (0)
A Null α1(V) Collagen Allele Is Caused by an Intronic Insertion in a Family with Ehlers-Danlos Syndrome II (1999) (0)
Mutation Screening of 6 Positional Candidate Genes for the Autosomal Dominant High–Grade Myopia 5 Locus (MYP5) (2005) (0)
Disrupted growth plates andprogressive deformities inosteogenesis imperfecta as a result ofthesubstitution ofglycine 585by valine intheoc2 (I)chain oftypeIcollagen (1996) (0)
Chapter 21 – Skeletal Dysplasias (2013) (0)
TGF_β2 forms a complex with type X collagen (2006) (0)
Syndrome of the month Perinatal lethal osteogenesis imperfecta (0)
Skin Petechiæ and Fat Embolism (1973) (0)
Neurofibrosarcoma — a complication of von Recklinghausen's disease (1989) (0)
Theclinical features ofEhlers-Danlos syndrome typeVIIBresulting fromabasesubstitution at thesplice acceptorsite ofintron 5ofthe COL1A2gene (1994) (0)
Collagen protein abnormalities produced by site-directed mutagenesis of the pro alpha 1(I) gene. (1989) (0)
Orthopaedic aspects of arterial injuries associated with lower limb fractures. (1974) (0)
Achondrogensis type II: A heterozygous point mutation prevents deposition of type II collagen into the cartilage matrix (1994) (0)
Genetics and pediatric orthopaedics. (1999) (0)
Marfan syndrome: Absence of type I or III collagen structural defects in 25 patients (1990) (0)
Theclinical features ofEhlers-Danlos syndrome typeVIIduetoa deletion of24aminoacids fromtheproul(I) chain oftypeI procollagen (1986) (0)
Ocular phenotype of alpha 1 and 2 Collagen V mutations in patients with Ehlers–Danlos syndrome gravis (2004) (0)

This paper list is powered by the following services:

What Schools Are Affiliated With William Graham Cole?

William Graham Cole is affiliated with the following schools:

William Graham Cole's Academic­Influence.com Rankings

William Graham Cole's Degrees

Similar Degrees You Can Earn

Why Is William Graham Cole Influential?

William Graham Cole's Published Works

Published Works

What Schools Are Affiliated With William Graham Cole?

William Graham Cole's AcademicInfluence.com Rankings