Lista de obras -

"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result

scientific article published on 13 July 2016

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

artículo científico publicado en 2017

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

scientific article published on 18 July 2019

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 novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

artículo científico publicado en 2017

A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics

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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

artículo científico publicado en 2017

ARID1B-mediated disorders: Mutations and possible mechanisms.

artículo científico publicado en 2015

An approach to the child with dysmorphic features

artículo científico publicado en 2017

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features

artículo científico publicado en 2014

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

artículo científico publicado en 2007

Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age.

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

artículo científico publicado en 2018

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

artículo científico publicado en 2004

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

artículo científico publicado en 2011

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

artículo científico publicado en 2017

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

artículo científico publicado en 2021

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

artículo científico publicado en 2017

Confined blood chimerism in monochorionic dizygous (MCDZ) twins

artículo científico publicado en 2007

Cpipe: a shared variant detection pipeline designed for diagnostic settings

artículo científico publicado en 2015

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

artículo científico publicado en 2017

Cystic fibrosis: a further case of an asymptomatic compound heterozygote

artículo científico publicado en 2001

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.

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease'.

artículo científico publicado en 2000

Drawing attention to difference: dilemmas in discussing dysmorphism with parents

scientific article published on 06 October 2010

Epilepsy in KCNH1-related syndromes

artículo científico publicado en 2016

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

artículo científico publicado en 2018

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

artículo científico publicado en 2014

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

artículo científico

Genotype and phenotype spectrum of NRAS germline variants

artículo científico publicado en 2017

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

artículo científico publicado en 2015

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

artículo científico publicado en 2015

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.

artículo científico publicado en 2017

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

artículo científico publicado en 2013

Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.

artículo científico publicado en 2000

Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?

artículo científico publicado en 2005

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

artículo científico publicado en 2007

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

artículo científico publicado en 2016

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

artículo científico

Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia.

artículo científico publicado en 2013

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

artículo científico publicado en 2020

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

artículo científico publicado en 2005

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

artículo científico publicado en 2017

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

artículo científico publicado en 2006

Renal-hepatic-pancreatic dysplasia: a broad entity

scientific article published on 01 December 2000

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome

scientific article published on 01 October 2011

Severe fetal brain dysgenesis with focal calcification.

artículo científico publicado en 2005

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

artículo científico publicado en 2018

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

scientific article published on 08 March 2015

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

artículo científico publicado en 2014

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

artículo científico publicado en 2015

The adult phenotype in Costello syndrome.

artículo científico publicado en 2005

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

artículo científico publicado en 2004

The mutational spectrum of brachydactyly type C

article

Two cases of trisomy 16 mosaicism ascertained postnatally

artículo científico publicado en 2009

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

scientific article published on 01 September 2007

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

artículo científico publicado en 2012

Lista de obras de

"It wasn't a disaster or anything": Parents' experiences of their child's uncertain chromosomal microarray result

A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data.

A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis

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 novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9

A population-based profile of 160 Australians with Prader-Willi syndrome: trends in diagnosis, birth prevalence and birth characteristics

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

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.

ARID1B-mediated disorders: Mutations and possible mechanisms.

An approach to the child with dysmorphic features

An exploration of the communication patterns and language used between clinical geneticists and parents of children with dysmorphic features

An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation

Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age.

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

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

Clinical and behavioral features of patients with Borjeson-Forssman-Lehmann syndrome with mutations in PHF6.

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome.

Cohort study of Gorlin syndrome with emphasis on standardised phenotyping and quality of life assessment.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

Confined blood chimerism in monochorionic dizygous (MCDZ) twins

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Current use of chromosomal microarray by Australian paediatricians and implications for the implementation of next generation sequencing.

Cystic fibrosis: a further case of an asymptomatic compound heterozygote

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.

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

Diagnostic re-evaluation of a case of 'cerebellar atrophy with Huntington's disease'.

Drawing attention to difference: dilemmas in discussing dysmorphism with parents

Epilepsy in KCNH1-related syndromes

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

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

Genotype and phenotype spectrum of NRAS germline variants

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child.

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

Megacystis-microcolon-intestinal hypoperistalsis syndrome: the difficulties with antenatal diagnosis. Case report and review of the literature.

Midline raphé, sternal cleft, and other midline abnormalities: a new dominant syndrome?

Molecular characterization of a novel X-linked syndrome involving developmental delay and deafness.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

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

Obstructive sleep apnea successfully treated by mandibular distraction osteogenesis in a rare skeletal dysplasia.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature.

Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Renal-hepatic-pancreatic dysplasia: a broad entity

Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome

Severe fetal brain dysgenesis with focal calcification.

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Speech and language in a genotyped cohort of individuals with Kabuki syndrome

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.

The adult phenotype in Costello syndrome.

The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

The mutational spectrum of brachydactyly type C

Two cases of trisomy 16 mosaicism ascertained postnatally

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.