List of works - Ruth Newbury-Ecob

A case of probable Bohring-Opitz syndrome with medulloblastoma

scientific article published in October 2010

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

scientific article published on 01 October 2010

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum ⬇️

scientific article published on 03 July 2013

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published on 02 May 2019

Barth syndrome.

scientific article

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

scientific article published on February 2, 2011

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

scientific article published in Nature Communications

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

scientific article published on 10 June 2020

Clinical and genetic aspects of KBG syndrome.

scientific article

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

scientific article published on 22 April 2020

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

scientific article

Constitutional trisomy 8 and Behçet syndrome.

scientific article published in May 2009

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 19 August 2020

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

scientific article published on 18 March 2017

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

article by Alexander Hoischen et al published 26 June 2011 in Nature Genetics

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

scientific article published on 3 April 2019

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

scientific article published on 2 November 2017

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

scientific article published in August 2016

Dysmorphology of Barth syndrome

scientific article

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

scientific article

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

scientific article

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

scientific article published on 23 April 2018

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

scientific article published on 01 August 2006

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

scientific article

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

scientific article

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

scientific article published on 10 December 2004

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

scientific article

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

scientific article published on 03 June 2019

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

scientific article

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

scientific article published on 24 September 2018

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

scientific article published on 11 May 2018

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

scientific article

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

scientific article

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

scientific article

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

scientific article published on 28 January 2021

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

scientific journal article

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

scientific article published on 26 December 2006

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

scientific article

New macular findings in individuals with biallelic KLHL7 gene mutation

article

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

scientific article published in November 2008

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

scientific article published on 20 March 2020

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

scientific article published on 16 July 2019

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

article by Jenny Lord et al published 23 February 2019 in The Lancet

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

scholarly article

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome? ⬇️

scientific article published on September 22, 2011

Pseudotail as a feature of microphthalmia with linear skin defects syndrome ⬇️

scientific article published on 01 April 2011

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

scientific article

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

scientific article published in September 2004

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

scientific article

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

scientific article published on 26 July 2016

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

scientific article published on 15 June 2018

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

scientific article published on 13 July 2020

Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome

scientific article published on 16 February 2010

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation

scientific article

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

scientific article

The face of Ulnar Mammary syndrome?

scientific article published in January 2011

The role of comparative genomic hybridisation in prenatal diagnosis

scientific article published in June 2001

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ⬇️

scientific article published on April 4, 2012

What is Barth syndrome?

‘Medicine’s Next Goldmine?’ The Implications of New Genetic Health Technologies for the Health Service

article

List of works by Ruth Newbury-Ecob

A case of probable Bohring-Opitz syndrome with medulloblastoma

A further patient with Noonan syndrome due to a SOS1 mutation and rhabdomyosarcoma

A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum ⬇️

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Barth syndrome.

Bohring–Opitz (Oberklaid–Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis ⬇️

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene

Clinical and genetic aspects of KBG syndrome.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

Constitutional trisomy 8 and Behçet syndrome.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

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

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

Dysmorphology of Barth syndrome

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients.

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity (Am J Med Genet 140A: 1726–1736)

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Further delineation of the KAT6B molecular and phenotypic spectrum

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

Genomewide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging

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

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Lack of genotype-phenotype correlation in Brugada Syndrome and Sudden Arrhythmic Death Syndrome families with reported pathogenic SCN1B variants

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

New macular findings in individuals with biallelic KLHL7 gene mutation

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma

Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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

Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome? ⬇️

Pseudotail as a feature of microphthalmia with linear skin defects syndrome ⬇️

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum

SET de novo frameshift variants associated with developmental delay and intellectual disabilities

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect

Supernumerary intestinal muscle coat in a patient with Hirschsprung disease/Mowat-Wilson syndrome

Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The face of Ulnar Mammary syndrome?

The role of comparative genomic hybridisation in prenatal diagnosis

Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance ⬇️

What is Barth syndrome?

‘Medicine’s Next Goldmine?’ The Implications of New Genetic Health Technologies for the Health Service