R. Savarirayan

发表

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

P. Mitchell, D. Mackey, A. Hewitt, 2010, Molecular vision.

Heritability of central corneal thickness in nuclear families.

D. Mackey, A. Hewitt, R. Mills, 2009, Investigative ophthalmology & visual science.

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

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Hearing loss in Norwegian adults with achondroplasia

R. Savarirayan, S. Fredwall, B. Åberg, 2021, Orphanet Journal of Rare Diseases.

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome

S. Aftimos, A. Slavotinek, J. Moeschler, 2009, Journal of Medical Genetics.

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.

R. Savarirayan, Ravi Savarirayan, J. Bateman, 2003, Human molecular genetics.

A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

N. Brown, Natalie B Tan, D. Phelan, 2020, Genetics in Medicine.

Patient safety in genomic medicine: an exploratory study

Clara Gaff, Dylan Mordaunt, Alicia Oshlack, 2016, Genetics in Medicine.

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit

Natalie B Tan, Z. Stark, D. Amor, 2019, Journal of paediatrics and child health.

Megaloblastic anaemia and pancytopenia secondary to prophylactic cotrimoxazole therapy

R. Savarirayan, H. Tapp, 1997, Journal of paediatrics and child health.

Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

J. McGrath, S. White, R. Savarirayan, 2006, American journal of medical genetics. Part A.

A community-based co-designed genetic health service model for Aboriginal Australians

M. Kelaher, G. Baynam, E. Kowal, 2020, PloS one.

Simpson-Golabi-Behmel syndrome and attention deficit hyperactivity disorder in two brothers

A. Bankier, R. Savarirayan, 1999, Journal of medical genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high‐resolution SNP microarrays

Z. Stark, P. James, D. O’Rielly, 2011, Human mutation.

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data.

Shivashankar H. Nagaraj, Kylie Gwynne, S. Easteal, 2020, American journal of human genetics.

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

J. Beckmann, A. Innes, A. Baxova, 2009, American journal of human genetics.

E. Haan, D. Sillence, S. Aftimos, 2011, Orphanet journal of rare diseases.

Two novel germline KRAS mutations: expanding the molecular and clinical phenotype

M. Ahmadian, Z. Stark, M. Zenker, 2012, Clinical genetics.

Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature

M. Aitken, S. Metcalfe, R. Savarirayan, 2003, American journal of medical genetics. Part A.

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Heidi Johansen, R. Savarirayan, Hildegun Snekkevik, 2019, Clinical genetics.

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

M. Irving, D. Tunkel, K. White, 2021, Orphanet Journal of Rare Diseases.

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

S. Easteal, M. Kelaher, G. Baynam, 2017, Advances in experimental medicine and biology.

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

P. Mitchell, D. Mackey, A. Hewitt, 2009, Human Genetics.

Thiemann disease and familial digital arthropathy – brachydactyly: two sides of the same coin?

C. Marshall, R. Savarirayan, R. Laxer, 2019, Orphanet Journal of Rare Diseases.

Best practice guidelines for management of spinal disorders in skeletal dysplasia

M. Irving, K. White, J. Hoover-Fong, 2020, Orphanet Journal of Rare Diseases.

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

M. Irving, K. White, J. Hoover-Fong, 2019, Genetics in Medicine.

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

A. Dart, B. Kingwell, R. Savarirayan, 2010, Atherosclerosis.

Primary trabeculodysgenesis in association with neonatal Marfan syndrome

James T. Elder, G. Gole, L. Adès, 2004, American journal of medical genetics. Part A.

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

A. Dart, B. Kingwell, R. Savarirayan, 2007, JAMA.

Infigratinib in Children With Achondroplasia (ACH): Design of PROPEL2 - A Phase 2, Open-Label, Dose-Escalation and Dose-Expansion Study

M. Irving, R. Savarirayan, D. Rogoff, 2021 .

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia

M. Irving, D. Tunkel, K. White, 2020, Orphanet Journal of Rare Diseases.

The Skeletal Manifestations of Deranged Glycosylation

R. Savarirayan, D. Coman, 2013 .

The skeletal manifestations of the congenital disorders of glycosylation

M. Irving, J. Jaeken, R. Savarirayan, 2008, Clinical genetics.

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia

M. Irving, J. Jaeken, R. Savarirayan, 2008, American journal of medical genetics. Part A.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter

D. Mackey, L. Kearns, J. Craig, 2005, Ophthalmic genetics.

Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7

Z. Stark, M. Ryan, R. Savarirayan, 2010, American journal of medical genetics. Part A.

Familial digital arthropathy-brachydactyly.

R. Gardner, D. Amor, R. Savarirayan, 2002, American journal of medical genetics.

An unclassifiable short rib‐polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings

S. Aftimos, R. Savarirayan, P. Kannu, 2007, American journal of medical genetics. Part A.

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

Martin A. M. Reijns, P. Lockhart, I. Jackson, 2011, American journal of human genetics.

Amelogenesis imperfecta: a classification and catalogue for the 21st century.

R. Savarirayan, P. Crawford, M. Aldred, 2003, Oral diseases.

Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti

G. Varigos, D. Penny, R. Savarirayan, 2005, American journal of medical genetics. Part A.

The male phenotype in osteopathia striata congenita with cranial sclerosis

S. Robertson, R. Nash, M. Porteous, 2011, American journal of medical genetics. Part A.

Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family

E. Haan, L. Morris, R. Savarirayan, 1997, Clinical genetics.

The Collagenopathies: Review of Clinical Phenotypes and Molecular Correlations

L. Ala‐Kokko, R. Jobling, R. Mendoza-Londono, 2013, Current Rheumatology Reports.

Best practices in peri‐operative management of patients with skeletal dysplasias

G. Redding, M. Irving, K. White, 2017, American journal of medical genetics. Part A.

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy

D. Rapoport, K. White, J. Hoover-Fong, 2016, American journal of medical genetics. Part A.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply.

M. Irving, R. Savarirayan, Jonathan R S Day, 2019, The New England journal of medicine.

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia

M. Irving, K. White, J. Hoover-Fong, 2018, American journal of obstetrics and gynecology.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

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

S. Robertson, O. Mäkitie, W. Cole, 2003, American journal of medical genetics. Part A.

Autosomal recessive omodysplasia: Early prenatal diagnosis and a possible clue to the gene location

L. Kornman, A. Fink, D. Francis, 2005, American journal of medical genetics. Part A.

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people

Angeline S Ferdinand, Y. Paradies, M. Kelaher, 2022, Nature Communications.

Broad phenotypic spectrum caused by an identical heterozygous CDMP‐1 mutation in three unrelated families

J. Graham, D. Rimoin, M. Warman, 2002, American journal of medical genetics. Part A.

The mutational spectrum of brachydactyly type C.

L. Singh, J. Graham, W. Newman, 2002, American journal of medical genetics.

Emerging targeted drug therapies in skeletal dysplasias

R. Savarirayan, P. Yap, Patrick Yap, 2016, American journal of medical genetics. Part A.

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

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

The natural history and osteodystrophy of mucolipidosis types II and III

D. Sillence, J. Fletcher, Meredith Wilson, 2010, Journal of paediatrics and child health.

International Guidelines for the Management and Treatment of Morquio A Syndrome

C. Hendriksz, R. Giugliani, W. Mackenzie, 2014, American journal of medical genetics. Part A.

Can hair be used to screen for breast cancer?

J. Cleaver, S. Bordin, J. P. Vasconcellos, 2000, Journal of medical genetics.

Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability.

R. Savarirayan, J. Bateman, S. Freddi, 2000, American journal of medical genetics.

TRPV4‐associated skeletal dysplasias

S. Ikegawa, B. Zabel, A. Superti-Furga, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications

B. V. van Bon, E. Bongers, D. Newbury, 2011, Molecular Syndromology.

Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism.

R. Savarirayan, P. Crawford, S. Lamandé, 2002, Oral diseases.

A Mouse Splice-Site Mutant and Individuals with Atypical Chromosome 22q11.2 Deletions Demonstrate the Crucial Role for Crkl in Craniofacial and Pharyngeal Development

Z. Stark, J. Bertram, P. Farlie, 2014, Molecular Syndromology.

Nosology and classification of genetic skeletal disorders: 2015 revision

Sheila Unger, Stefan Mundlos, Luca Sangiorgi, 2015, American journal of medical genetics. Part A.

A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders

G. McGillivray, R. Savarirayan, Maie Walsh, 2020, Molecular genetics & genomic medicine.

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype

D. Amor, J. Liebelt, R. Savarirayan, 2016, American Journal of Medical Genetics. Part A.

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN

F. Nicholas, H. Raadsma, R. Savarirayan, 2007, Mammalian Genome.

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

S. Bohlander, K. Kagan, Filippo Beleggia, 2015, American journal of human genetics.

Metatropic dysplasia: Clinical and radiographic findings in 11 patients demonstrating long‐term natural history

S. Aftimos, L. Donnan, R. Savarirayan, 2007, American journal of medical genetics. Part A.

Genetic counselling after carrier detection by newborn screening when one parent carries ΔF508 and the other R117H

L. Curnow, R. Savarirayan, J. Massie, 2003, Archives of disease in childhood.

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

Z. Stark, R. Savarirayan, B. Bennetts, 2011, European Journal of Human Genetics.

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia

N. Brown, Z. Stark, R. Savarirayan, 2015, American journal of medical genetics. Part A.

“This is my boy’s health! Talk straight to me!” perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services

Y. Paradies, M. Kelaher, G. Baynam, 2020, International Journal for Equity in Health.

Orphanet Journal of Rare Diseases

Z. Stark, R. Savarirayan, Open Access, 2022 .

Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history.

A. Offiah, M. Irving, J. Hoover-Fong, 2021, Bone.

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

C. Larsson, R. Savarirayan, B. Radden, 2006, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome

E. Haan, M. Delatycki, A. Bankier, 2004, American journal of medical genetics. Part A.

Journal of Rare Diseases Osteopetrosis

Z. Stark, R. Savarirayan, 2009 .

“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias

D. Rimoin, V. Cormier-Daire, R. Savarirayan, 2001, Pediatric Radiology.

Notice of Retraction: Ahimastos AA, et al. Effect of Perindopril on Large Artery Stiffness and Aortic Root Diameter in Patients With Marfan Syndrome: A Randomized Controlled Trial. JAMA. 2007;298(13):1539-1547.

A. Dart, B. Kingwell, R. Savarirayan, 2015, JAMA.

Midtrimester pregnancy loss and cervical incompetence —Is there an association with connective tissue laxity?

R. Savarirayan, F. Cullinane, S. Grover, 2014 .

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome

A. Bankier, M. Zacharin, R. Savarirayan, 2005, American journal of medical genetics. Part A.

Emerging therapies for Achondroplasia: changing the rules of the game

R. Savarirayan, Smitha Kumble, 2021, Expert opinion on emerging drugs.

Chapter 89. Fibrous Dysplasia

L. Viernstein, F. Speleman, J. Vandesompele, 2008 .

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

A. Munnich, A. Verloes, L. Faivre, 2001, Human Genetics.

Are Duane syndrome and infantile esotropia allelic?

J. L. Poulsen, D. Mackey, R. Savarirayan, 2004, Ophthalmic genetics.

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

J. Wark, G. Varigos, P. Phal, 2016, Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases.

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

A. Munnich, S. Lyonnet, C. Goridis, 2009, Human Mutation.

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

D. Horn, S. Mundlos, M. Spielmann, 2015, Journal of Medical Genetics.

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

Philippe Debeer, Frank Speleman, Jan Hellemans, 2004, Nature Genetics.

Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia

K. Larimore, M. Irving, J. Hoover-Fong, 2021, Clinical Pharmacokinetics.

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

J. Charrow, K. Larimore, M. Irving, 2019, The New England journal of medicine.

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia

G. Mortier, J. Campbell, M. Sessa, 2021, Nature Reviews Endocrinology.

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

M. Marazita, R. Savarirayan, N. Kilpatrick, 2014, International journal of paediatric dentistry.

Acampomelic campomelic dysplasia with de novo 5q;17q reciprocal translocation and severe phenotype.

A. Bankier, R. Savarirayan, 1998, Journal of medical genetics.

Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis

H. Scott, A. Schreiber, C. Barnett, 2020, Journal of Medical Genetics.

An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement.

S. Robertson, R. Savarirayan, J. Rogers, 1999, American journal of medical genetics.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

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

R. Savarirayan, L. Forrest, M. Sahhar, 2014, Journal of Community Genetics.

Medial temporal lobe dysgenesis in hypochondroplasia

S. Mandelstam, L. Donnan, R. Savarirayan, 2005, American journal of medical genetics. Part A.

Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia

S. Robertson, I. Glass, T. Roscioli, 2003, American journal of medical genetics. Part A.

Longterm follow‐up in chondrodysplasia punctata, tibia–metacarpal type, demonstrating natural history

R. Boyle, R. Savarirayan, J. Rogers, 2004, American journal of medical genetics. Part A.

Lethal metatropic dysplasia: a case report.

R. Savarirayan, B. Kumar, P. Kannu, 2007, Pathology.

Nosology and classification of genetic skeletal disorders: 2019 revision

D. Sillence, S. Mundlos, S. Robertson, 2019, American journal of medical genetics. Part A.

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1‐13q32.3

L. Voullaire, K. Choo, R. Savarirayan, 2005, American journal of medical genetics. Part A.

Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review

P. Ekert, J. Jameson, M. Zacharin, 2006, American journal of medical genetics. Part A.

Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia

P. James, R. Savarirayan, J. Bateman, 2003, Prenatal diagnosis.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, A. Munnich, S. Robertson, 2001, American journal of human genetics.

Molecular Genetics of the Cartilage Collagenopathies

R. Savarirayan, J. Bateman, S. Lamandé, 2017 .

Mutations within the spliceosomal gene SNRPB affect its auto‐regulation and are causative for classic cerebro‐costo‐mandibular syndrome

E. Zackai, M. Brudno, K. Boycott, 2015, Clinical genetics.

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

S. Dunwoodie, D. Amor, D. Sparrow, 2008, American journal of medical genetics. Part A.

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia

S. Robertson, P. Scambler, R. Winter, 2000, Journal of medical genetics.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

I. Scheffer, K. Choy, N. Pachter, 2008, Journal of Medical Genetics.

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour

S. Robertson, A. Reeve, R. Savarirayan, 2010, Journal of Medical Genetics.

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

Clara Gaff, Alicia Oshlack, Peter Georgeson, 2017, JAMA pediatrics.

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

R. Savarirayan, T. Tan, Charlotte M. Whitelaw, 2007, Clinical dysmorphology.

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

J. Gécz, R. Savarirayan, E. Thompson, 2003, European Journal of Human Genetics.

The skeletal dysplasias.

D. Rimoin, R. Savarirayan, 2002, Best practice & research. Clinical endocrinology & metabolism.

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

G. Mortier, F. Pagani, A. Villa, 2004, Human mutation.

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.

M. Zacharin, R. Savarirayan, C. Pedreira, 2004, The Journal of pediatrics.

Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia

K. Larimore, M. Irving, C. Bacino, 2021, Scientific Reports.

SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia

J. Charrow, M. Irving, K. White, 2020, Journal of the Endocrine Society.

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial

J. Charrow, M. Irving, K. White, 2020, The Lancet.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures

E. Haan, R. Savarirayan, L. Moore, 2016, American journal of medical genetics. Part A.

Clinical phenotypes associated with type II collagen mutations

R. Savarirayan, J. Bateman, P. Kannu, 2012, Journal of paediatrics and child health.

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia

R. Savarirayan, J. Bateman, S. Freddi, 2005, Human mutation.

Schmid type metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia identical to the “Japanese” type

D. Rimoin, V. Cormier-Daire, R. Savarirayan, 2000, Pediatric Radiology.

Australian guidelines for the management of children with achondroplasia

S. Broley, A. Zankl, R. Savarirayan, 2023, Journal of paediatrics and child health.

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

J. Charrow, M. Irving, K. White, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

M. Irving, D. Thompson, K. White, 2022, Orphanet Journal of Rare Diseases.

Emerging drug targets for achondroplasia

R. Savarirayan, 2022, Expert opinion on therapeutic targets.

Experiences of children and adolescents living with achondroplasia and their caregivers

J. Hoover-Fong, R. Savarirayan, A. Williams, 2022, Molecular genetics & genomic medicine.

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

M. Irving, F. Santos-Simarro, J. Hoover-Fong, 2022, Therapeutic advances in musculoskeletal disease.

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study

J. Charrow, M. Irving, K. White, 2021, Genetics in Medicine.

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study

H. Weedon-Fekjær, R. Savarirayan, I. Lidal, 2021, Orphanet Journal of Rare Diseases.

Rationale, design, and methods of a randomized, controlled, open-label clinical trial with open-label extension to investigate the safety of vosoritide in infants, and young children with achondroplasia at risk of requiring cervicomedullary decompression surgery

Sajda Ghani, A. Offiah, M. Irving, 2021, Science progress.

Cardiovascular risk factors and body composition in adults with achondroplasia

Lisa J. Kjonigsen, S. Tonstad, H. Weedon-Fekjær, 2020, Genetics in Medicine.

Novel therapeutic approaches for the treatment of Achondroplasia.

R. Savarirayan, L. Legeai-Mallet, 2020, Bone.

Optimal management of complications associated with achondroplasia

L. Johnston, A. Zankl, R. Savarirayan, 2014, The application of clinical genetics.

Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome.

R. Savarirayan, E. Thompson, M. Moore, 1999, American journal of medical genetics.

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy

Anthony D. Holmes, Vicki A. Anderson, J. Meara, 2012, Child's Nervous System.

Intellectual Outcomes in Children and Adolescents with Syndromic and Nonsyndromic Craniosynostosis

J. Meara, V. Anderson, R. Savarirayan, 2006, Plastic and reconstructive surgery.

Neuropsychological Diversity in Apert Syndrome: A Comparison of Cognitive Profiles

J. Meara, V. Anderson, R. Savarirayan, 2005, Annals of plastic surgery.

Baller-Gerold syndrome associated with congenital portal venous malformation.

R. Savarirayan, P. Tomlinson, E. Thompson, 1998, Journal of medical genetics.

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort

W. Reardon, F. McKenzie, P. Itin, 2018, Human mutation.

It's only teeth – are there limits to genetic testing?

J. Savulescu, R. Savarirayan, Pjm Crawford, 2003, Clinical genetics.

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

H. Weedon-Fekjær, R. Savarirayan, C. Rustad, 2020, Orphanet Journal of Rare Diseases.

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

David A. Mackey, Alex W. Hewitt, Kathryn P. Burdon, 2016, Translational vision science & technology.

Isolated and Syndromic Syngnathism: Management, Implications, and Genetics

J. Meara, R. Savarirayan, J. Tomlinson, 2006, Annals of plastic surgery.

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.

M. McKay, M. Lavin, R. Ramsay, 2019, International journal of radiation oncology, biology, physics.

Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

S. Ellard, J. Baptista, H. Lango Allen, 2017, Prenatal diagnosis.

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

N. Brown, F. McKenzie, W. Lattanzi, 2017, Genetics in Medicine.

Novel KDM6A (UTX) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (KS2)

B. Grisart, H. Stewart, G. Mancini, 2015, Clinical genetics.

Monoallelic and Biallelic CREB3L1 Variant Causes Mild and Severe Osteogenesis Imperfecta, Respectively

Rachel B. Keller, D. Nickerson, M. Bamshad, 2017, Genetics in Medicine.

New case of Cole-Carpenter syndrome.

A. Bankier, D. Amor, R. Savarirayan, 2000, American journal of medical genetics.

Molecular analysis for genetic counselling in amelogenesis imperfecta.

A. Bankier, R. Savarirayan, N. Lench, 2002, Oral diseases.

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

D. Amor, R. Savarirayan, 2001, American journal of medical genetics.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

N. Brown, A. Kornberg, Z. Stark, 2014, American journal of medical genetics. Part A.

Mutations in TRPV4 cause an inherited arthropathy of hands and feet

P. McIntyre, Yuan Yuan, K. Kaluarachchi, 2011, Nature Genetics.

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

E. Zackai, C. Ponting, L. Sánchez-Pulido, 2016, American journal of human genetics.

Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 Australian and New Zealand patients

E. Haan, D. David, I. Glass, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Cauli: A Mouse Strain with an Ift140 Mutation That Results in a Skeletal Ciliopathy Modelling Jeune Syndrome

J. Bertram, P. Farlie, M. Freckmann, 2013, PLoS genetics.

Skeletal dysplasias.

D. Rimoin, R. Savarirayan, 2004, Advances in pediatrics.

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: Two new reports of MOTA syndrome

D. Amor, R. Savarirayan, A. Yeung, 2009, American journal of medical genetics. Part A.

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes

K. White, J. Hoover-Fong, R. Savarirayan, 2021, Neurosurgery Clinics of North America.

Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?

L. Morris, K. Janssens, F. Vanhoenacker, 2003, Clinical dysmorphology.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

J. Seidman, M. Vikkula, I. Holm, 2011, PLoS genetics.

Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review

M. Zacharin, R. Savarirayan, S. Walker, 2012, Obstetric medicine.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

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

I. Winship, R. Savarirayan, Bich-Thu Duong, 2015, Familial Cancer.

Osteopathia striata with cranial sclerosis owing to WTX gene defect

E. Haan, W. Hul, M. Barbosa, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Culturally competent communication in Indigenous disability assessment: a qualitative study

Y. Paradies, M. Kelaher, G. Baynam, 2021, International Journal for Equity in Health.

Variable Expression of Campomelic Dysplasia in a Father and his 46, XY Daughter

S. Robertson, A. Bankier, R. Savarirayan, 2003, Pediatric pathology & molecular medicine.

Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition

L. Adès, A. Bankier, D. Amor, 2003, Clinical dysmorphology.

Nosology of genetic skeletal disorders: 2023 revision

D. Sillence, S. Mundlos, S. Robertson, 2023, American journal of medical genetics. Part A.

Common phenotype and etiology in warfarin embryopathy and X-linked chondrodysplasia punctata (CDPX)

R. Savarirayan, 1999, Pediatric Radiology.

Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia

R. Savarirayan, P. Simm, 2017, Journal of Paediatrics and Child Health.

Microlissencephaly with cardiac, spinal and urogenital defects.

R. Gardner, L. Coleman, G. Suthers, 2001, Clinical dysmorphology.

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

R. Savarirayan, D. Belluoccio, A. Fosang, 2009, Arthritis and rheumatism.

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

T. Roscioli, Meredith Wilson, M. Caramins, 2009, Genes, chromosomes & cancer.

Jaw lesions and hyperparathyroidism.

R. Savarirayan, M. Aldred, A. A. Talacko, 2004, Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons.

Two Novel COL2A1 Mutations Associated with a Legg-Calvé-Perthes Disease-like Presentation

M. Irving, S. Aftimos, R. Savarirayan, 2011, Clinical orthopaedics and related research.

Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0–5 years

D. Sillence, R. Ware, L. Johnston, 2012, Journal of paediatrics and child health.

Premature arthritis is a distinct type II collagen phenotype.

R. Savarirayan, J. Bateman, M. Edwards, 2010, Arthritis and rheumatism.

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

T. Roscioli, T. Cox, A. Bankier, 2005, Journal of Medical Genetics.

Development in children with achondroplasia: a prospective clinical cohort study

D. Sillence, R. Ware, L. Johnston, 2012, Developmental medicine and child neurology.

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia

H. Weedon-Fekjær, O. D. Leinhard, R. Savarirayan, 2023, Orphanet Journal of Rare Diseases.

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

R. Savarirayan, C. Munns, V. Pacey, 2021, Orphanet Journal of Rare Diseases.

Developmental Milestones in Infants and Young Australasian Children With Achondroplasia

D. Sillence, R. Ware, L. Johnston, 2010, Journal of developmental and behavioral pediatrics : JDBP.

Functional performance in young Australian children with achondroplasia

D. Sillence, R. Ware, L. Johnston, 2011, Developmental medicine and child neurology.

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

A. Fink, S. Mandelstam, R. Savarirayan, 2017, American Journal of Neuroradiology.

Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.

D. Rimoin, P. Roughley, W. Wilcox, 2000, American journal of medical genetics.

Clinical significance of two mutations in the factor IX gene in a family with haemophilia B

R. Savarirayan, C. Barnes, J. Furmedge, 2010, Haemophilia.

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

N. Brown, E. Haan, F. McKenzie, 2018, Genetics in Medicine.

The Application of Clinical Genetics Dovepress Optimal Management of Complications Associated with Achondroplasia

L. Johnston, A. Zankl, R. Savarirayan, 2022 .

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

D. Sillence, R. Ware, L. Johnston, 2013, Journal of Paediatrics and Child Health.

Type II Collagen Disorders Overview

R. Savarirayan, P. A. Gregersen, 2019 .

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

R. Savarirayan, L. Forrest, M. Sahhar, 2014, Journal of Community Genetics.

Staphylococcal food poisoning.

A. L. Wong, J. Gécz, M. Rietschel, 2002 .

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Heidi Johansen, R. Savarirayan, Hildegun Snekkevik, 2019, Clinical genetics.

New mesomelic dysplasia with absent fibulae and triangular tibiae.

D. Rimoin, C. Curry, V. Cormier-Daire, 2000, American journal of medical genetics.

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: Further evidence that collagen X NC1 mutations impair trimer assembly

R. Savarirayan, J. Bateman, S. Freddi, 2004, Human mutation.