List of works - Emma Wakeling

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients

scientific article published on 22 April 2015

A clinical scoring system for congenital contractural arachnodactyly

scientific article published on 18 July 2019

A common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R)

scientific article published on 01 October 1997

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

scientific article published on 01 October 2009

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

scientific article published on 21 January 2015

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

scientific article published on 11 June 2018

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

scientific article published in January 2007

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

scientific article

Bone health and SATB2-associated syndrome.

scientific article published on 8 August 2017

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

scientific article published on 25 February 2016

Central osteosclerosis with trichothiodystrophy.

scientific article published on 18 May 2004

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

scientific article published on 12 March 2016

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

scientific article published on 01 June 2006

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases

scientific article published on 01 November 2006

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

scientific article

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

scientific article

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)

scientific article published on 06 August 2015

Epigenetic signatures of Silver-Russell syndrome.

scientific article published on March 2010

Epigenotype-phenotype correlations in Silver-Russell syndrome

scientific article

Evidence that insulin is imprinted in the human yolk sac

scientific article published on 01 January 2001

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

scientific article published on 27 August 2011

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability

scientific article published in May 2018

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

scientific article

Froster syndrome: two further siblings with bilateral diaphragmatic hernia, asymmetric limb reduction defects, and exomphalos

scientific article published on 01 April 2013

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

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

scientific article

Genetics of Silver-Russell Syndrome ⬇️

scientific article published on January 1, 1998

Genetics of silver-russell syndrome

scientific article published on 01 January 1998

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

scientific article published on 27 November 2017

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

scientific article published on 19 January 2011

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

scientific article

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

scientific article

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

scientific article published on 01 March 1998

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

scientific article published on 31 May 2016

Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade

scientific article

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families

scientific article published on July 1, 1997

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

scientific article published on 9 January 2014

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

scientific article published on 28 June 2018

Lung disease associated with the IVS8 5T allele of the CFTR gene

scientific article published on 01 November 2000

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

scientific article published on 24 March 2018

Mild case of Curry-Jones syndrome

scientific article published on 01 April 2006

Mosaic structural variation in children with developmental disorders

scientific article

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

scientific article published on 30 October 2012

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

scientific article published on 29 August 2016

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

scientific article

PEHO syndrome: the endpoint of different genetic epilepsies

scientific article published on 04 October 2018

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

scientific article published on 01 October 2010

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

scientific article published on 9 June 2016

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

scientific article published on 7 November 2017

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report

article

Silver-Russell syndrome and ring chromosome 7.

scientific article published in May 2000

X-linked inheritance of Dandy-Walker variant

scientific article published on 01 January 2002

List of works by Emma Wakeling

3p14 deletion is a rare contiguous gene syndrome: report of 2 new patients and an overview of 14 patients

A clinical scoring system for congenital contractural arachnodactyly

A common polymorphism in exon 16 of the human insulin-like growth factor-1 receptor gene (IGF1R)

A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome

A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication

Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption.

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

Bone health and SATB2-associated syndrome.

CCDC88A mutations cause PEHO-like syndrome in humans and mouse

Central osteosclerosis with trichothiodystrophy.

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

Deletions of 2q14 that include the homeobox engrailed 1 (EN1) transcription factor are compatible with a normal phenotype

Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases

Diagnosis and management of Silver-Russell syndrome: first international consensus statement

Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome

Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S)

Epigenetic signatures of Silver-Russell syndrome.

Epigenotype-phenotype correlations in Silver-Russell syndrome

Evidence that insulin is imprinted in the human yolk sac

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

Expanding the molecular basis and phenotypic spectrum of ZDHHC9-associated X-linked intellectual disability

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations.

Froster syndrome: two further siblings with bilateral diaphragmatic hernia, asymmetric limb reduction defects, and exomphalos

Further delineation of the KAT6B molecular and phenotypic spectrum

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

Genetics of Silver-Russell Syndrome ⬇️

Genetics of silver-russell syndrome

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Hallux valgus interphalangeus and a novel mutation in HOXA13. Part of the broadening spectrum of Hand-Foot-Genital syndrome.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

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

Human EGFR, a candidate gene for the Silver-Russell syndrome, is biallelically expressed in a wide range of fetal tissues

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Ionic control of beta cell function in nesidioblastosis. A possible therapeutic role for calcium channel blockade

Lack of hemizygosity for the insulin-like growth factor I receptor gene in a quantitative study of 33 Silver Russell syndrome probands and their families

Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus.

Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthood

Lung disease associated with the IVS8 5T allele of the CFTR gene

Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring.

Mild case of Curry-Jones syndrome

Mosaic structural variation in children with developmental disorders

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

PEHO syndrome: the endpoint of different genetic epilepsies

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

Septo-optic dysplasia, subglottic stenosis and skeletal abnormalities: a case report

Silver-Russell syndrome and ring chromosome 7.

X-linked inheritance of Dandy-Walker variant