Lista de obras -

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

artículo científico publicado en 2017

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

artículo científico publicado en 2014

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

artículo científico publicado en 2016

A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?

artículo científico publicado en 2009

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

artículo científico publicado en 2003

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders

artículo científico publicado en 2019

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

artículo científico publicado en 2010

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

scientific journal article

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

artículo científico publicado en 2005

Clinical phenotypes associated with type II collagen mutations

artículo científico publicado en 2011

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

artículo científico publicado en 2016

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

artículo científico publicado en 2005

Development in children with achondroplasia: a prospective clinical cohort study

artículo científico publicado en 2012

Developmental milestones in infants and young Australasian children with achondroplasia.

artículo científico publicado en 2010

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

artículo científico publicado en 2017

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

artículo científico publicado en 2014

Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial

artículo científico

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

scientific article published on February 2009

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

artículo científico publicado en 2016

Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

artículo científico publicado en 2013

Familial digital arthropathy-brachydactyly

artículo científico publicado en 2002

Functional performance in young Australian children with achondroplasia

artículo científico publicado en 2011

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

artículo científico publicado en 2010

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

artículo científico publicado en 2011

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

artículo científico publicado en 2009

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

artículo científico

Isolated and syndromic syngnathism: management, implications, and genetics

artículo científico publicado en 2006

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

artículo científico publicado en 2011

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

artículo científico publicado en 2004

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

artículo científico publicado en 2011

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years

artículo científico publicado en 2011

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

artículo científico publicado en 2015

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

scientific article published on 29 June 2016

Mutations in PYCR1 cause cutis laxa with progeroid features

artículo científico publicado en 2009

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

artículo científico publicado en 2015

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

artículo científico publicado en 2011

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

artículo científico publicado en 2009

Optimal management of complications associated with achondroplasia

artículo científico publicado en 2014

Premature arthritis is a distinct type II collagen phenotype.

scientific article published on May 2010

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

artículo científico publicado en 2012

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

artículo científico publicado en 2003

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

artículo científico publicado en 2004

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

artículo científico publicado en 2011

TRPV4-associated skeletal dysplasias

artículo científico publicado en 2012

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

artículo científico publicado en 2017

Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

artículo científico

The collagenopathies: review of clinical phenotypes and molecular correlations

artículo científico publicado en 2014

The effect of height, weight and head circumference on gross motor development in achondroplasia

artículo científico publicado en 2013

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

artículo científico publicado en 2014

The natural history and osteodystrophy of mucolipidosis types II and III

artículo científico publicado en 2010

The skeletal dysplasias

artículo científico publicado en 2002

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation

artículo científico publicado en 2011

Lista de obras de

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

Clinical phenotypes associated with type II collagen mutations

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation

Development in children with achondroplasia: a prospective clinical cohort study

Developmental milestones in infants and young Australasian children with achondroplasia.

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate

Familial digital arthropathy-brachydactyly

Functional performance in young Australian children with achondroplasia

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Isolated and syndromic syngnathism: management, implications, and genetics

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

Optimal management of complications associated with achondroplasia

Premature arthritis is a distinct type II collagen phenotype.

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

TRPV4-associated skeletal dysplasias

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias.

Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders

The collagenopathies: review of clinical phenotypes and molecular correlations

The effect of height, weight and head circumference on gross motor development in achondroplasia

The impact of participation in genetic research for families with cleft lip with and without cleft palate: a qualitative study

The natural history and osteodystrophy of mucolipidosis types II and III

The skeletal dysplasias

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation