Author details

Full Name

William G Cole

Affiliation

The Hospital for Sick Children, University of Toronto,Toronto

ORCID

Career Start Year

1971

Papers

257

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
24443344	First mouse model for combined osteogenesis imperfecta and Ehlers-Danlos syndrome.	J Bone Miner Res	2014
23656646	WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.	N Engl J Med	2013
22487062	Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.	BMC Med Genet	2012
22789636	Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis.	Eur J Med Genet	2012
22511589	Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics.	Am J Med Genet A	2012
21150732	Unicameral bone cysts: comparison of percutaneous curettage, steroid, and autologous bone marrow injections.	J Pediatr Orthop	2011
22174861	How stand productivity results from size- and competition-dependent growth and mortality.	PLoS One	2011
21964574	Mutations in TRPV4 cause an inherited arthropathy of hands and feet.	Nat Genet	2011
21407258	Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).	Eur J Hum Genet	2011
19673927	Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia.	Clin Endocrinol (Oxf)	2010
22131841	Vacuum-assisted closure as a surgical assistant in life-threatening necrotizing fasciitis in children.	Can J Plast Surg	2010
20872587	Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type Î±1(X) protein chains.	J Orthop Res	2010
20499351	Long-term clinical outcome and carrier phenotype in autosomal recessive hypophosphatemia caused by a novel DMP1 mutation.	J Bone Miner Res	2010
20102740	Characterization of the six zebrafish clade B fibrillar procollagen genes, with evidence for evolutionarily conserved alternative splicing within the pro-alpha1(V) C-propeptide.	Matrix Biol	2010
18381781	Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene.	J Rheumatol	2008
19012342	Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.	Am J Med Genet A	2008
17403716	COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid.	Hum Mol Genet	2007
17920346	Shwachman-Diamond syndrome is associated with low-turnover osteoporosis.	Bone	2007
17878778	Treatment of open femur fractures in children: comparison between external fixator and intramedullary nailing.	J Pediatr Orthop	2007
16630424	Factors predicting the outcome of primary clubfoot surgery.	Can J Surg	2006
16967268	MRI of traumatic patellar dislocation in children.	Pediatr Radiol	2006
16450407	HOXD10 M319K mutation in a family with isolated congenital vertical talus.	J Orthop Res	2006
16431952	Structural abnormalities of the cornea and lid resulting from collagen V mutations.	Invest Ophthalmol Vis Sci	2006
15503291	Imatinib mesylate: an attractive alternative in young children with large, surgically challenging dermatofibrosarcoma protuberans.	Pediatr Blood Cancer	2005
16287128	Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.	Hum Mutat	2005
15864348	A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.	J Clin Invest	2005
15824851	Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.	J Bone Miner Res	2005
15855131	Congenital dislocation of the patella.	AJR Am J Roentgenol	2005
16088909	Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients.	Am J Med Genet A	2005
16026543	Differentiation-induced loss of heparan sulfate in human exostosis derived chondrocytes.	Differentiation	2005
15795344	Improvements in advance care planning in the Veterans Affairs System: results of a multifaceted intervention.	Arch Intern Med	2005
15756228	Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis.	J Pediatr	2005
15733275	A search for the gene(s) predisposing to idiopathic clubfoot.	Clin Genet	2005
15694129	COMP mutations, chondrocyte function and cartilage matrix.	Matrix Biol	2005
15095409	Reduced type I collagen utilization: a pathogenic mechanism in COL5A1 haplo-insufficient Ehlers-Danlos syndrome.	J Cell Biochem	2004
15579310	Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH.	Matrix Biol	2004
15523042	Olpadronate reduced fractures in children with osteogenesis imperfecta.	J Bone Joint Surg Am	2004
15183431	Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate.	J Orthop Res	2004
15468025	Impairment and activity limitation associated with epiphyseal dysplasia in children.	Arch Phys Med Rehabil	2004
14994237	Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.	Am J Med Genet A	2004
14729835	Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.	J Med Genet	2004
14984468	Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.	Clin Genet	2004
12525546	Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.	J Med Genet	2003
12966518	Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.	Am J Med Genet A	2003
12915641	Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.	J Clin Endocrinol Metab	2003
12952205	Skeletal dysplasias reveal genes of importance in skeletal development and structure.	Connect Tissue Res	2003
14569119	Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia.	J Med Genet	2003
12714612	New locus for autosomal dominant high myopia maps to the long arm of chromosome 17.	Invest Ophthalmol Vis Sci	2003
11850620	A mutant PTH/PTHrP type I receptor in enchondromatosis.	Nat Genet	2002
12151879	Idiopathic scoliosis in families of children with congenital scoliosis.	Clin Orthop Relat Res	2002

1 - 50 of 257

Keisuke Nakagawa

Osaka Metropolitan University Graduate School of Medicine

Career Start Year 2004

Number of shared co-authors 0

Claus-Eric Ott

Charite-Universitatsmedizin Berlin

Career Start Year 2002

Number of shared co-authors 2

Zafer Y??ksel

Kahramanmaras Sutcu Imam University

Career Start Year 2002

Number of shared co-authors 2

Junichi Tamai

Cincinnati Children's Hospital Medical Center

Career Start Year 2002

Number of shared co-authors 0

Julie Hoover-Fong

Johns Hopkins University

Career Start Year 2001

Number of shared co-authors 2

Gregory M Cooper

HudsonAlpha Institute for Biotechnology

Career Start Year 1998

Number of shared co-authors 3

Andreas Zankl

The University of Sydney

Career Start Year 1997

Number of shared co-authors 2

Linlea Armstrong

University of British Columbia

Career Start Year 1997

Number of shared co-authors 1

Michael T Collins

National Institute of Dental and Craniofacial Research

Career Start Year 1996

Number of shared co-authors 1

Brent Adler

Nationwide Children's Hospital

Career Start Year 1995

Number of shared co-authors 0

David Zurakowski

Harvard Medical School, Boston Children's Hospital

Career Start Year 1995

Number of shared co-authors 0

Syed H E Zaidi

Ontario Institute for Cancer Research

Career Start Year 1994

Number of shared co-authors 0

Uwe Kornak

Institute of Human Genetics, University Medical Center Gottingen

Career Start Year 1994

Number of shared co-authors 2

Jae Yoon Chung

Boston University School of Medicine

Career Start Year 1991

Number of shared co-authors 0

Peter Freisinger

Hospital Reutlingen

Career Start Year 1991

Number of shared co-authors 1

Charles T Mehlman

Cincinnati Children's Hospital Medical Center

Career Start Year 1990

Number of shared co-authors 0

Luca Sangiorgi

Department of Rare Skeletal Disorders - IRCCS Istituto Ortopedico Rizzoli

Career Start Year 1990

Number of shared co-authors 3

Beyhan T??ys??z

Istanbul University-Cerrahpasa

Career Start Year 1989

Number of shared co-authors 3

Allan Beebe

Nationwide Children's Hospital

Career Start Year 1988

Number of shared co-authors 0

Howard M Saal

Cincinnati Children's Hospital Medical Center

Career Start Year 1985

Number of shared co-authors 0

Eileen M Shore

University of Pennsylvania, Perelman School of Medicine

Career Start Year 1984

Number of shared co-authors 2

Fiona Stewart

Belfast City Hospital

Career Start Year 1984

Number of shared co-authors 2

Kathryn N North

Murdoch Children's Research Institute

Career Start Year 1984

Number of shared co-authors 1

Frederick S Kaplan

Perelman School of Medicine, the University of Pennsylvania

Career Start Year 1982

Number of shared co-authors 2

Jack Goldblatt

King Edward Memorial Hospital for Women

Career Start Year 1978

Number of shared co-authors 2

Otto Sanchez

Ontario Tech University

Career Start Year 1973

Number of shared co-authors 0

Kenneth Rosenbaum

Rare Disease Institute, Children's National Hospital

Career Start Year 1971

Number of shared co-authors 1

John J Mulvihill

University of Oklahoma

Career Start Year 1968

Number of shared co-authors 2

Hagen Blankenburg

Institute for Biomedicine, Affiliated Institute of the University of Lubeck

Career Start Year 1966

Number of shared co-authors 0

Vicente Gilsanz

Center for Endocrinology, Children's Hospital Los Angeles

Career Start Year 1949

Number of shared co-authors 0

row(s) 1 - 30 of 30

Mark S Tuttle

Apelon Inc.

Co-authored papers 13

David D Sherertz

Inc. (LTI)

Co-authored papers 11

Stuart J Nelson

Co-authored papers 10

Nels E Olson

Co-authored papers 10

David Sillence

Sydney University Clinical School, Children's Hospital

Co-authored papers 9

K D Keck

Co-authored papers 4

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 4

Donald L Patrick

School of Public Health, 4University of Washington

Co-authored papers 3

Vincent R Harley

Co-authored papers 2

Brian Kaihoi

Global Products and Services Mayo Clinic Center for Innovation Rochester MN.

Co-authored papers 2

Jay S Wunder

University of Toronto

Co-authored papers 2

Christopher G Chute

Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota

Co-authored papers 2

G E Atkin

Co-authored papers 2

Peter L Elkin

Jacobs School of Medicine and Biomedical Sciences, University at Buffalo

Co-authored papers 2

Clair A Francomano

Indiana University School of Medicine

Co-authored papers 2

Johanna M Rommens

The Hospital for Sick Children

Co-authored papers 2