Lista de obras - Helen Firth - Dominio Público Uruguay

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

artículo científico

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

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2006

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

artículo científico publicado en 2013

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 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?

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Clinical and mutational spectrum of Mowat-Wilson syndrome

artículo científico publicado en 2005

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

artículo científico publicado en 2018

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

scholarly article

Congenital abnormalities of the central nervous system

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2004

Contribution of retrotransposition to developmental disorders

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2022

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

De novo mutations in regulatory elements cause neurodevelopmental disorders

scholarly article

De novo mutations in regulatory elements in neurodevelopmental disorders

artículo científico publicado en 2018

Diagnostic interpretation of array data using public databases and internet sources

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHER

artículo científico publicado en 2015

Fetal cardiac anomalies and genetic syndromes

artículo científico publicado en 2004

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

artículo científico publicado en 2019

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

artículo científico publicado en 2019

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Genomic variant sharing: a position statement

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2010

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

Interpretation of genomic copy number variants using DECIPHER.

artículo científico publicado en 2012

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

artículo científico publicado el 22 de junio de 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado el 11 de abril de 2012

No expectation to share incidental findings in genomic research

artículo científico publicado en 2014

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

artículo científico publicado en 2007

Paediatric genomics: diagnosing rare disease in children

artículo científico publicado en 2018

Paediatric genomics: diagnosing rare disease in children

artículo científico publicado en 2018

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

artículo científico publicado en 2007

Policy challenges of clinical genome sequencing

artículo científico publicado en 2013

Potential research participants support the return of raw sequence data

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2020

Principle of proportionality in genomic data sharing

artículo científico publicado en 2015

Quantifying the contribution of recessive coding variation to developmental disorders

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Registered access: authorizing data access

artículo científico publicado en 2018

Returning genome sequences to research participants: Policy and practice

artículo científico publicado en 2017

Skeletal dysplasias.

artículo científico publicado en 2005

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

artículo científico publicado en 2011

Syndromic associations with congenital anomalies of the fetal thorax and abdomen

artículo científico publicado en 2008

The Deciphering Developmental Disorders (DDD) study

artículo científico publicado en 2011

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

The Matchmaker Exchange: a platform for rare disease gene discovery

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2005

Lista de obras de 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