List of works - Susan White

"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.

scientific article

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.

scientific article

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

scientific article published on 07 February 2017

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

scientific article published on 25 November 2014

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

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

scientific article published in December 2017

ARID1B-mediated disorders: Mutations and possible mechanisms.

scientific article

An approach to the child with dysmorphic features

scientific article published on 01 March 2017

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

scientific article published on 23 September 2014

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

scientific article published on 24 February 2007

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

scientific article published on 5 June 2017

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

scientific article published on 21 November 2013

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

scientific article published on 20 January 2018

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

scientific article published on December 2004

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

scientific article

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

scientific article

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

scientific article published on 12 January 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

scientific article published on 19 December 2017

Confined blood chimerism in monochorionic dizygous (MCDZ) twins

scientific article published in 2007

Cpipe: a shared variant detection pipeline designed for diagnostic settings

scientific article published on 10 July 2015

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

scientific article published on 27 April 2017

Cystic fibrosis: a further case of an asymptomatic compound heterozygote

scientific article published on 01 November 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.

scientific article

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

scientific article

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

scientific article published in March 2000

Drawing attention to difference: dilemmas in discussing dysmorphism with parents

scientific article published on 06 October 2010

Epilepsy in KCNH1-related syndromes

scientific article

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

scientific article published on 16 February 2018

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

scientific article

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

scientific article published on 11 October 2013

Genotype and phenotype spectrum of NRAS germline variants

scientific article published on 3 May 2017

Is cardiac rhabdomyoma a feature of Birt Hogg Dubé syndrome?

scientific article published on 05 February 2015

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

scientific article

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

scientific article published on 21 November 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?

scientific article

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

scientific article

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

scientific article published on 01 May 2005

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

scientific article published in November 2007

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

scientific article published on 27 April 2015

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

scientific article

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

scientific article

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

scientific article published on 27 March 2014

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

scientific article published in March 2013

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

scientific article published on 22 November 2020

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

scientific article

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

scientific article published on 26 January 2017

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

scientific article published in April 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.

scientific article published on May 2005

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

scientific article published on 19 February 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

scientific article published on December 2014

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

scientific article published on 23 July 2015

The adult phenotype in Costello syndrome.

scientific article published in July 2005

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

scientific article

The mutational spectrum of brachydactyly type C

article

Two cases of trisomy 16 mosaicism ascertained postnatally

scientific article published on 01 July 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.

scientific article published on 31 January 2012

List of works by Susan White

"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.