List of works - Moira Blyth

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

scientific article published on 20 November 2014

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

scientific article published on 19 September 2008

A novel 2.43 Mb deletion of 7q11.22-q11.23

scientific article published on 01 December 2008

Amniotic bands in paternal half-siblings.

scientific article

Anophthalmia in fronto-facial-nasal dysplasia.

scientific article published in April 2011

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

scientific article published on 26 June 2019

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

scientific article

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

scientific article published on 12 March 2016

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

scientific article

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

scientific article published on 5 November 2015

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

scientific article published on 5 October 2015

Ectopic pregnancy in primary ciliary dyskinesia

scientific article

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

scientific article published in March 2010

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

scientific article published on 23 April 2018

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

scientific article published in November 2017

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

scientific article published on 13 August 2014

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

scientific article published on 30 November 2011

Pallister-Killian syndrome: a study of 22 British patients.

scientific article published on 17 April 2015

Phenotypic features of diploid/triploid mosaicism in an adult.

scientific article published in April 2014

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.

scientific article published on 6 October 2016

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

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

Severe Marfan syndrome due to FBN1 exon deletions

scientific article published on 01 May 2008

Severe staphylococcal scalded skin syndrome in children.

scientific article published on 17 July 2007

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

scientific article

The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.

scientific article published on 30 May 2008

List of works by Moira Blyth

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

A novel 2.43 Mb deletion of 7q11.22-q11.23

Amniotic bands in paternal half-siblings.

Anophthalmia in fronto-facial-nasal dysplasia.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel PHOX2B Exon 1 Missense Mutation

Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.

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

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

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

Ectopic pregnancy in primary ciliary dyskinesia

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

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

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Pallister-Killian syndrome: a study of 22 British patients.

Phenotypic features of diploid/triploid mosaicism in an adult.

RAF1-associated Noonan syndrome presenting antenatally with an abnormality of skull shape, subdural haematoma and associated with novel cerebral malformations.

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

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

Severe Marfan syndrome due to FBN1 exon deletions

Severe staphylococcal scalded skin syndrome in children.

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

The hidden mortality of transposition of the great arteries and survival advantage provided by prenatal diagnosis.