List of works - Ravi Savarirayan

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

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

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

scientific article published on 3 March 2016

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 2 October 2011

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

scientific article published on October 2007

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

scientific article published on 28 May 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

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

scientific article

TRPV4-associated skeletal dysplasias

scientific article

Clinical phenotypes associated with type II collagen mutations

scientific article published on 18 February 2011

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

scientific article

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

scientific journal article

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

scientific article (publication date: 15 October 2003)

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

scientific article

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

scientific article published on February 2009

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

scientific article

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

scientific article

Premature arthritis is a distinct type II collagen phenotype.

scientific article published on May 2010

The natural history and osteodystrophy of mucolipidosis types II and III

scientific article

Functional performance in young Australian children with achondroplasia

scientific article

The skeletal dysplasias

scientific article

Optimal management of complications associated with achondroplasia

scientific article

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

scientific article

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

scientific article

The collagenopathies: review of clinical phenotypes and molecular correlations

scientific article published on January 2014

Development in children with achondroplasia: a prospective clinical cohort study

scientific article

Developmental milestones in infants and young Australasian children with achondroplasia

scientific article published in January 2010

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

scientific article

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

scientific article (publication date: September 2003)

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

scientific article

Familial digital arthropathy-brachydactyly

scientific article published on March 2002

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

scientific article published on November 17, 2013

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

scientific article published on 8 August 2009

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

scientific article

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

scientific article published on 7 December 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.

scientific article

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

scientific article published on 9 February 2016

Isolated and syndromic syngnathism: management, implications, and genetics

scientific article published on August 2006

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

scientific article published on 22 January 2013

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

scientific article published on 15 August 2015

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

scientific article published on February 6, 2014

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

scientific article

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

scientific article published on May 2016

List of works by Ravi Savarirayan

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

Mutations in PYCR1 cause cutis laxa with progeroid features

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

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

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

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

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

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

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

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

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

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

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

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

TRPV4-associated skeletal dysplasias

Clinical phenotypes associated with type II collagen mutations

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

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

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

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

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis

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

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

Premature arthritis is a distinct type II collagen phenotype.

The natural history and osteodystrophy of mucolipidosis types II and III

Functional performance in young Australian children with achondroplasia

The skeletal dysplasias

Optimal management of complications associated with achondroplasia

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

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

The collagenopathies: review of clinical phenotypes and molecular correlations

Development in children with achondroplasia: a prospective clinical cohort study

Developmental milestones in infants and young Australasian children with achondroplasia

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

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

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

Familial digital arthropathy-brachydactyly

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

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

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

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.

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

Isolated and syndromic syngnathism: management, implications, and genetics

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

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

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

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

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