List of works - Helen Firth

"Matching" consent to purpose: The example of the Matchmaker Exchange.

scientific article published on 14 June 2017

A cellular census of human lungs identifies novel cell states in health and in asthma

scientific article published on 17 June 2019

A framework for an evidence-based gene list relevant to autism spectrum disorder

scientific article published on 21 April 2020

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

scientific article

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

scientific article

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

scientific article published on 29 December 2012

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

scientific article

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

scientific article published on 3 September 2014

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

scientific article published on 27 April 2020

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

scientific article published on 22 July 2003

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

scientific article published on 29 April 2015

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene

scientific article published in December 2003

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

scientific article

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Clinical and mutational spectrum of Mowat-Wilson syndrome

scientific article published on 25 February 2005

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scientific article published in Nature

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scholarly article

Congenital abnormalities of the central nervous system

scientific article published in March 2003

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

scientific article published on 18 November 2016

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

scientific article published on 10 October 2004

Contribution of retrotransposition to developmental disorders

scientific article published on 11 October 2019

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

scientific article published on 29 July 2020

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 01 July 2019

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

scientific article

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

scientific article published on 10 February 2022

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

scientific article

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

scientific article

Databases in Human and Medical Genetics

article

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

scientific article published on 11 July 2019

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

scientific article published on 22 July 2020

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

scientific article published on 27 March 2014

De novo mutations in regulatory elements cause neurodevelopmental disorders

scholarly article

De novo mutations in regulatory elements in neurodevelopmental disorders.

scientific article

Diagnostic interpretation of array data using public databases and internet sources

scientific article

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

scientific article published on 5 October 2015

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

scientific article

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

scientific article published on 11 October 2012

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

scientific article published on 29 July 2019

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

scientific article published on 05 November 2020

Evidence for 28 genetic disorders discovered by combining healthcare and research data

scientific article published on 14 October 2020

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

scientific article published on 21 June 2019

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

scientific article

Fetal cardiac anomalies and genetic syndromes

scientific article

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

scientific article published on 10 October 2019

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

scientific article published on 30 May 2019

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

GA4GH: International policies and standards for data sharing across genomic research and healthcare

scientific article published on 10 November 2021

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

scientific article

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

scientific article

Genomic variant sharing: a position statement

scientific article published on 05 February 2019

Genomically Aided Diagnosis of Severe Developmental Disorders

scientific article published on 18 May 2020

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare

scientific article published on 01 July 2019

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

scientific article

Guidelines for molecular karyotyping in constitutional genetic diagnosis

scientific article

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

scientific article published on 22 March 2016

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

scientific article

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

scientific article

Identification of SATB2 as the cleft palate gene on 2q32-q33.

scientific article

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

scientific article published on 5 January 2016

Interpretation of genomic copy number variants using DECIPHER.

scientific article published on January 2012

Isolated hypoglossal schwannoma in a 9-year-old child ⬇️

scientific article published on June 22, 2012

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

scientific article published on 11 January 2018

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations

scientific article published on 22 May 2019

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

scientific article published on 11 June 2019

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

scientific article

Microduplication and triplication of 22q11.2: a highly variable syndrome

scientific article

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

scientific article published in January 2005

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

scientific article published in June 2010

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

scientific article published on 29 February 2004

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val ⬇️

scientific article published on April 11, 2012

No expectation to share incidental findings in genomic research

scientific article published on 17 December 2014

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

scientific article

Paediatric genomics: diagnosing rare disease in children

scientific article published on 5 February 2018

Paediatric genomics: diagnosing rare disease in children

scientific article

Pathogenicity and selective constraint on variation near splice sites

scholarly article published 30 January 2018

Pathogenicity and selective constraint on variation near splice sites

scientific article published on 26 December 2018

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance

scientific article published on 01 September 2007

Policy challenges of clinical genome sequencing

scientific article published in the British Medical Journal

Potential research participants support the return of raw sequence data

scientific article

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

scientific article (publication date: November 2010)

Prenatal diagnosis of Harlequin ichthyosis presenting as distal arthrogryposis using three-dimensional ultrasound

scientific article published on June 2007

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

scholarly article

Primary Pneumococcal Peritonitis can be the first presentation of a familial complement factor I deficiency

scientific article published on 08 July 2020

Principle of proportionality in genomic data sharing

scientific article

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

Quantifying the contribution of recessive coding variation to developmental disorders

scholarly article

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome

scientific article published in November 2006

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Registered access: authorizing data access

scientific article published on 2 August 2018

Returning genome sequences to research participants: Policy and practice

scientific article published on 24 February 2017

Skeletal dysplasias.

scientific article

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

scientific article published on July 2008

The Deciphering Developmental Disorders (DDD) study

scientific article published on 17 June 2011

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The Human Phenotype Ontology in 2024: phenotypes around the world

scientific article published in 2023

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

scientific article (publication date: 2014)

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The Matchmaker Exchange: a platform for rare disease gene discovery

scientific article

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

scientific article published on 25 October 2018

Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times

scientific article

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

scientific article published on 08 April 2019

Trappc9 deficiency causes parent-of-origin dependent microcephaly and obesity

scientific article published on 02 September 2020

VEP-G2P: A Tool for Efficient, Flexible and Scalable Diagnostic Filtering of Genomic Variants

Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children

article

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation

scientific article

List of works by Helen Firth

"Matching" consent to purpose: The example of the Matchmaker Exchange.

A cellular census of human lungs identifies novel cell states in health and in asthma

A framework for an evidence-based gene list relevant to autism spectrum disorder

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

ADA2 deficiency complicated by EBV-driven lymphoproliferative disease

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Cell proliferation activities on skin fibroblasts from a short child with absence of one copy of the type 1 insulin-like growth factor receptor (IGF1R) gene and a tall child with three copies of the IGF1R gene

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Clinical and mutational spectrum of Mowat-Wilson syndrome

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Congenital abnormalities of the central nervous system

Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B.

Contribution of retrotransposition to developmental disorders

Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation

DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders

Databases in Human and Medical Genetics

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder

De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

De novo mutations in regulatory elements cause neurodevelopmental disorders

De novo mutations in regulatory elements in neurodevelopmental disorders.

Diagnostic interpretation of array data using public databases and internet sources

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome.

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations

Extreme growth failure is a common presentation of ligase IV deficiency

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

Fetal cardiac anomalies and genetic syndromes

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Genomic variant sharing: a position statement

Genomically Aided Diagnosis of Severe Developmental Disorders

Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Guidelines for molecular karyotyping in constitutional genetic diagnosis

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

Identification of SATB2 as the cleft palate gene on 2q32-q33.

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

Interpretation of genomic copy number variants using DECIPHER.

Isolated hypoglossal schwannoma in a 9-year-old child ⬇️

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Microduplication and triplication of 22q11.2: a highly variable syndrome

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val ⬇️

No expectation to share incidental findings in genomic research

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Paediatric genomics: diagnosing rare disease in children

Paediatric genomics: diagnosing rare disease in children

Pathogenicity and selective constraint on variation near splice sites

Pathogenicity and selective constraint on variation near splice sites

Persistent upper airway obstruction is a diagnostic feature of spondyloepimetaphyseal dysplasia with multiple dislocations (Hall type) with further evidence for dominant inheritance