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List of works by Eamonn R Maher

15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations

scientific article published on 25 June 2015

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma ⬇️

scientific article published on May 10, 2013

A case of a metastatic SDHA mutated paraganglioma re-presenting twenty-three years after initial surgery

scientific article published on August 2017

A clinical and genetic analysis of multiple primary cancer referrals to genetics services

scientific article

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

scientific article published on 16 May 2013

A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect

scientific article published in March 2014

A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism

scientific article published on 01 July 2014

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

A genome-wide screen identifies frequently methylated genes in haematological and epithelial cancers

scientific article published on 25 February 2010

A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8)

scientific article

A legacy of tinnitus: multiple head and neck paragangliomas

scientific article published on 28 December 2009

A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene.

scientific article published in January 2010

A nonsense thyrotropin receptor gene mutation (R609X) is associated with congenital hypothyroidism and heart defects.

scientific article published in November 2014

A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption

scientific article

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

scientific article

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

scientific article published on 01 January 2012

A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis

scientific article

A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders

scientific article published on 24 February 2020

A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma

scientific article published on 19 July 2020

A survey of assisted reproductive technology births and imprinting disorders.

scientific article

A truncating DUOX2 mutation (R434X) causes severe congenital hypothyroidism

scientific article published in March 2014

A truncating TPO mutation (Y55X) in patients with hypothyroidism and total iodide organification defect

scientific article published on 20 October 2014

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad

scientific article

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

scientific article

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype

scientific article published on 25 November 2003

An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis

scientific article published on 01 September 2014

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

scientific article

An imprinted IMAGe: insights into growth regulation through genomic analysis of a rare disease ⬇️

scientific article published on July 30, 2012

Analysis of VHL Gene Alterations and their Relationship to Clinical Parameters in Sporadic Conventional Renal Cell Carcinoma

scientific article published on December 2009

Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma

scientific article

Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas.

scientific article published on October 2001

Assisted reproductive therapies and imprinting disorders--a preliminary British survey

scientific article published on 16 December 2005

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

scientific article (publication date: 5 July 2003)

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

scientific article

BAC chromosomal microarray for prenatal detection of chromosome anomalies in fetal ultrasound anomalies: an economic evaluation

scientific article published on 13 June 2014

Bayesian approach to determining penetrance of pathogenic SDH variants

scientific article published on 10 September 2018

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study

scientific article published in October 2008

Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency

article

Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer

scientific article published in June 2008

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

scientific article

Birt Hogg-Dubé syndrome-associated FLCN mutations disrupt protein stability

scientific article published on 12 July 2011

Birt-Hogg-Dubé syndrome: diagnosis and management

scientific article published in December 2009

CDKN1C mutations: two sides of the same coin.

scientific article published on 25 September 2014

CHRNGgenotype–phenotype correlations in the multiple pterygium syndromes

scientific article published on 01 January 2012

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

scientific article published on 16 September 2017

Canadian guideline on genetic screening for hereditary renal cell cancers

scientific article published on September 2013

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.

scientific article published on 25 May 2010

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Cardiopulmonary function in two human disorders of the hypoxia-inducible factor (HIF) pathway: von Hippel-Lindau disease and HIF-2alpha gain-of-function mutation

scientific article

Cargos and genes: insights into vesicular transport from inherited human disease

scientific article published in September 2007

Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients

scientific article

Causes and Consequences of Multi-Locus Imprinting Disturbances in Humans

scientific article published on 24 May 2016

Cerebrotendinous xanthomatosis (CTX): an association of pulverulent cataracts and pseudo-dominant developmental delay in a family with a splice site mutation in CYP27A1--a case report

scientific article published on June 2010

Characterization of a 3;6 translocation associated with renal cell carcinoma.

scientific article published on April 2007

Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry.

scientific article published on 13 April 2015

Characterization of renal cell carcinoma-associated constitutional chromosome abnormalities by genome sequencing

scientific article published on 05 February 2020

Childhood disorders of neurodegeneration with brain iron accumulation (NBIA).

scientific article

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers

scientific article published on 29 January 2019

Clinical and Molecular Features of Renal and Pheochromocytoma/Paraganglioma Tumor Association Syndrome (RAPTAS): Case Series and Literature Review.

scientific article published on 28 July 2017

Clinical and genetic analysis of patients with pancreatic neuroendocrine tumors associated with von Hippel-Lindau disease

scientific article published on 01 December 2000

Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

scientific article

Clinical and molecular genetic features of ARC syndrome

scientific article published on 01 August 2006

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH-B) gene mutation carriers

scientific article published on 14 April 2008

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

scientific article published on 03 July 2013

Clinical utility gene card for: von Hippel-Lindau (VHL).

scientific article

Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

scientific article

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

scientific article

Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing.

scientific article published on 28 June 2013

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

article

Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ.

scientific article published on 15 August 2016

Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care

scientific article

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

scientific article published on 18 November 2016

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

scientific article published on 5 October 2008

Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)

scientific article published on 11 September 2020

Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours.

scientific article published on 10 February 2009

Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer

Copy number profiling in von Hippel-Lindau disease renal cell carcinoma

scientific article published on 31 March 2011

Cover Image, Volume 173A, Number 7, July 2017

CpG island promoter hypermethylation of a novel Ras-effector gene RASSF2A is an early event in colon carcinogenesis and correlates inversely with K-ras mutations.

scientific article published in June 2005

CpG methylation profiling in VHL related and VHL unrelated renal cell carcinoma.

scientific article published on 03 June 2009

DNA methylation profiles of long- and short-term glioblastoma survivors

scientific article published on 4 January 2013

DNA methylation profiling distinguishes histological subtypes of renal cell carcinoma.

scientific article published on 21 February 2013

Deciphering the genetics of hereditary non-syndromic colorectal cancer

scientific article published on 16 July 2008

Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 22 January 2016

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Depletion of the Ras Association Domain Family 1, Isoform A-Associated Novel Microtubule-Associated Protein, C19ORF5/MAP1S, Causes Mitotic Abnormalities

scientific article published on 01 January 2007

Design and validation of a metabolic disorder resequencing microarray (BRUM1).

scientific article published on July 2010

Detection of RASSF1A aberrant promoter hypermethylation in sputum from chronic smokers and ductal carcinoma in situ from breast cancer patients

scientific article published on 01 January 2003

Diagnosis and Management of Hereditary Renal Cell Cancer

scientific article published on 01 January 2016

Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour

scientific article published on 01 February 2008

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

scientific article published on 04 March 2019

Dysregulation at multiple points of the kynurenine pathway is a ubiquitous feature of renal cancer: implications for tumour immune evasion

scientific article published on 11 May 2020

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

scientific article published on 11 May 2016

Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome

scientific article

Endometriosis and the neoplastic process

scientific article published on March 2004

Ensuring that COVID-19 research is inclusive: guidance from the NIHR INCLUDE project

scientific article published on 05 November 2020

Epigenetic alteration at the DLK1-GTL2 imprinted domain in human neoplasia: analysis of neuroblastoma, phaeochromocytoma and Wilms' tumour

scientific article

Epigenetic analysis of HIC1, CASP8, FLIP, TSP1, DCR1, DCR2, DR4, DR5, KvDMR1, H19 and preferential 11p15.5 maternal-allele loss in von Hippel-Lindau and sporadic phaeochromocytomas

scientific article published on 01 March 2005

Epigenetic analysis of childhood acute lymphoblastic leukemia.

scientific article

Epigenetic inactivation of SLIT3 and SLIT1 genes in human cancers.

scientific article published on December 2004

Epigenetic inactivation of the RASSF10 candidate tumor suppressor gene is a frequent and an early event in gliomagenesis ⬇️

scientific article published on October 18, 2010

Epigenetic inactivation of the candidate 3p21.3 suppressor gene BLU in human cancers.

scientific article

Epigenetic risks related to assisted reproductive technologies: epigenetics, imprinting, ART and icebergs?

scientific article published on 01 December 2003

Epigenetics of renal cell carcinoma: the path towards new diagnostics and therapeutics ⬇️

scientific article published on 03 September 2010

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

scientific article published on 10 December 2013

Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency

scientific article published on 3 March 2016

Erratum to: Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.

scientific article published on 7 March 2016

Erratum: Corrigendum: Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

scientific article published in March 2011

Erratum: Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scholarly article published in Nature Genetics

Erratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scholarly article published in Nature Genetics

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes

scientific article published on 21 August 2017

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

article

Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma

scientific article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan

article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan

article

Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom

article

Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in <i>HPDL</i>

scientific article published on 28 January 2021

Exome Sequencing for Prenatal Detection of Genetic Abnormalities in Fetal Ultrasound Anomalies: An Economic Evaluation

scientific article published on 21 January 2020

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

scientific article

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement

scientific article

Expression and knockdown of zebrafish folliculin suggests requirement for embryonic brain morphogenesis

scientific article

Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations

scientific article published on 5 September 2006

Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights

scientific article published on 18 July 2019

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN

scientific article published on 01 September 2008

Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG

scientific article published on 01 April 2004

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis

scientific article

Formation of dimethylketene and methacrolein by reaction of the CH radical with acetone.

scientific article published in March 2013

Frequent RASSF1A tumour suppressor gene promoter methylation in Wilms' tumour and colorectal cancer

article

Frequent epigenetic inactivation of KIBRA, an upstream member of the Salvador/Warts/Hippo (SWH) tumor suppressor network, is associated with specific genetic event in B-cell acute lymphocytic leukemia.

scientific article published on March 2011

Frequent epigenetic inactivation of RASSF1A and BLU genes located within the critical 3p21.3 region in gliomas.

scientific article published on March 2004

Frequent epigenetic inactivation of the RASSF1A tumour suppressor gene in testicular tumours and distinct methylation profiles of seminoma and nonseminoma testicular germ cell tumours.

scientific article

Frequent epigenetic inactivation of the SLIT2 gene in chronic and acute lymphocytic leukemia

scientific article

Frequent epigenetic inactivation of the SLIT2 gene in gliomas

scientific article published in July 2003

Fumarate Metabolic Signature for the Detection of Reed Syndrome in Humans

scientific article published on 21 October 2019

Functional epigenetic approach identifies frequently methylated genes in Ewing sarcoma.

scientific article published on 4 September 2013

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies

scientific article

Gene expression and protein array studies of folliculin-regulated pathways

scientific article

Genes, assisted reproductive technology and trans-illumination

scientific article published on June 2013

Genetic Stratification of Inherited and Sporadic Phaeochromocytoma and Paraganglioma: Implications for Precision Medicine

scientific article published on 15 October 2020

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

scientific article published in December 2003

Genetic and epigenetic analysis of recurrent hydatidiform mole

scientific article published in May 2009

Genetic and epigenetic analysis of von Hippel-Lindau (VHL) gene alterations and relationship with clinical variables in sporadic renal cancer

scientific article published in February 2006

Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma

scientific article published on 01 November 2012

Genetics of Familial Renal Cancers ⬇️

scientific article published on November 11, 2010

Genetics of phaeochromocytoma.

scientific article published on January 2006

Genome-wide CpG island methylation analysis implicates novel genes in the pathogenesis of renal cell carcinoma.

scientific article published in March 2012

Genome-wide DNA methylation profiling of CpG islands in breast cancer identifies novel genes associated with tumorigenicity.

scientific article published on March 2011

Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma

article

Genomic imprinting disorders: lessons on how genome, epigenome and environment interact

scientific article published on 01 April 2019

Genomic organization and chromosomal localization of the humanCUL2 gene and the role of von Hippel-Lindau tumor suppressor-binding protein (CUL2 and VBP1) mutation and loss in renal-cell carcinoma development

scientific article published in September 1999

Genomics and epigenomics of renal cell carcinoma ⬇️

scientific article published on June 28, 2012

Genotype-phenotype correlations in VHL exon deletions

scientific article published on 01 October 2009

Genotype-phenotype correlations in von Hippel-Lindau disease.

scientific article

Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome

scientific article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression

scientific article published on 3 March 2016

Germline FH mutations presenting with pheochromocytoma

scientific article published on 8 July 2014

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

scientific article

Germline SDHB mutations and familial renal cell carcinoma.

scientific article

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

scientific article

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility

scientific article

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

scientific article

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

HIF activation identifies early lesions in VHL kidneys: evidence for site-specific tumor suppressor function in the nephron

scientific article

HIF2 and endocrine neoplasia: an evolving story ⬇️

scientific article published on May 30, 2013

Health and population effects of rare gene knockouts in adult humans with related parents

scientific article

Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals

scientific article published on 09 December 2019

Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

scientific article

Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.

scientific article published on 21 April 2018

Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort

scientific article

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders ⬇️

scientific article

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

scientific article

Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism

scientific article published on 18 October 2018

Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

scientific article published on 26 May 2009

Housekeeping proteins: a preliminary study illustrating some limitations as useful references in protein expression studies.

scientific article

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

scientific article

Human imprinting syndromes.

scientific article published on December 2009

Hypoxia, Hypoxia-inducible Transcription Factors, and Renal Cancer

scientific article published on 19 August 2015

Identification of cyclin D1 and other novel targets for the von Hippel-Lindau tumor suppressor gene by expression array analysis and investigation of cyclin D1 genotype as a modifier in von Hippel-Lindau disease.

scientific article

Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families

scientific article published in June 2005

Identification of novel VHL target genes and relationship to hypoxic response pathways

scientific article

Identification of novel gene expression targets for the Ras association domain family 1 (RASSF1A) tumor suppressor gene in non-small cell lung cancer and neuroblastoma

scientific article

Identification of the E1A-regulated transcription factor p120 E4F as an interacting partner of the RASSF1A candidate tumor suppressor gene

scientific article

Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation

scientific article published on 01 September 2002

Imprinting and assisted reproductive technology.

scientific article

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

scientific article

In Vitro Selection of a Single-Stranded DNA Molecular Recognition Element against Clostridium difficile Toxin B and Sensitive Detection in Human Fecal Matter

scientific article

In vitro selection of a single-stranded DNA molecular recognition element for the pesticide malathion

scientific article

Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth

scientific article

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

scientific article published on 23 April 2009

Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers

scientific article

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.

scientific article published on 30 May 2008

Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

scientific article published on 18 May 2009

Investigation of the Birt-Hogg-Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

scientific article published on 01 June 2010

Investigation of the role of SDHB inactivation in sporadic phaeochromocytoma and neuroblastoma.

scientific article published on November 2004

Involvement of the RASSF1A tumor suppressor gene in controlling cell migration

scientific article published on September 2005

KIBRAgene methylation is associated with unfavorable biological prognostic parameters in chronic lymphocytic leukemia

scientific article published on 01 March 2012

Locus heterogeneity and Knobloch syndrome

scientific article published on 01 November 2010

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations

scientific article

Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

scientific article published on 27 October 2011

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

scientific article

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

scientific article published in December 2007

Meeting abstracts from the 64th British Thyroid Association Annual Meeting: Newcastle, UK. 13/05/2016.

scientific article published on 13 February 2017

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

scientific article

MethylCal: Bayesian calibration of methylation levels

scientific article published on 01 August 2019

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

scientific article

Methylation profiling and evaluation of demethylating therapy in renal cell carcinoma.

scientific article published on 13 September 2013

Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

scientific article

Microarray comparative genomic hybridization in prenatal diagnosis: a review

scientific article

Mild and severe congenital primary hypothyroidism in two patients by thyrotropin receptor (TSHR) gene mutation ⬇️

scientific article published on 01 January 2012

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome

scientific article published on 06 March 2007

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

scientific article published on 08 October 2018

Molecular genetic evidence that endometriosis is a precursor of ovarian cancer

scientific article published on 01 August 2006

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

scientific article published on February 2009

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

Multigene methylation analysis of Wilms' tumour and adult renal cell carcinoma

scientific article

Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review

scientific article

Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: implications for molecular diagnosis

scientific article published on 16 February 2010

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

scientific article

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility

scientific article

Mutation analysis of hypoxia-inducible factors HIF1A and HIF2A in renal cell carcinoma

article

Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome

scientific article

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

scientific article

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome

scientific article published on May 2013

Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome)

scientific article

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

scientific article

Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease

scientific article

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia

scientific article

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy)

scientific article

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

scientific article

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

scientific article

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

scientific article (publication date: August 2002)

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

scientific article

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

scientific article

NORE1A, a homologue of RASSF1A tumour suppressor gene is inactivated in human cancers

scientific article published on 01 February 2003

Nomenclature and definition in asymmetric regional body overgrowth.

scientific article published on 5 May 2017

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

scientific article

Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish

scientific article

Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism

scientific article

Novel truncating thyroglobulin gene mutations associated with congenital hypothyroidism.

scientific article

OTULIN deficiency in ORAS causes cell type-specific LUBAC degradation, dysregulated TNF signalling and cell death

scientific article published on 01 March 2019

Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study

scientific article published on 17 August 2015

One Base Deletion (c.2422delT) in the TPO Gene Causes Severe Congenital Hypothyroidism.

scientific article

Oxidized HDL is a potent inducer of adipogenesis and causes activation of the Ang-II and 20-HETE systems in human obese females

scientific article published on 11 May 2016

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

scientific article

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

PMS2 mutations in childhood cancer

scientific article published in March 2006

Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.

scientific article published in March 2009

Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma

scientific article published in May 2002

Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers

scientific article published on January 2006

Pathogenic germline variants in patients with features of hereditary renal cell carcinoma: evidence for further locus heterogeneity

scientific article published on 23 August 2020

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family

scientific article

Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

scientific article published on 26 February 2018

Perlman Syndrome: Overgrowth, Wilms Tumor Predisposition and DIS3L2.

scientific article published on 9 April 2013

Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2.

scientific article published in May 2013

Phaeochromocytoma and paraganglioma: next-generation sequencing and evolving Mendelian syndromes

scientific article published on 01 August 2014

Phaeochromocytoma, new genes and screening strategies

scientific article published in December 2006

Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening

scientific article

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

scientific article published on 15 July 2016

Pheochromocytoma

scientific article

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

scientific article published on 9 September 2010

Photo-responsive self-assembly of an azobenzene-ended surfactant-encapsulated polyoxometalate complex for modulating catalytic reactions

scientific article published on 9 July 2012

Population-based survey of cancer risks in chromosome 3 translocation carriers.

scientific article published in January 2010

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

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

scientific article published on 28 October 2015

Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.

scientific article published on July 2008

Profiling of somatic mutations in phaeochromocytoma and paraganglioma by targeted next generation sequencing analysis.

scientific article

Progressive cone dystrophy associated with mutation in CNGB3.

scientific article

Protein-truncating mutations in ASPM cause variable reduction in brain size

scientific article published on 21 October 2003

Proteomic identification of a role for the von Hippel Lindau tumour suppressor in changes in the expression of mitochondrial proteins and septin 2 in renal cell carcinoma

scientific article published on July 2006

Proteomic identification of differentially expressed plasma membrane proteins in renal cell carcinoma by stable isotope labelling of a von Hippel-Lindau transfectant cell line model

scientific article published on April 2009

RAN GTPase is a RASSF1A effector involved in controlling microtubule organization

scientific article

RASSF1A interacts with microtubule-associated proteins and modulates microtubule dynamics

scientific article

RASSF2methylation is a strong prognostic marker in younger age patients with Ewing sarcoma ⬇️

scientific article published on July 18, 2013

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution

scientific article

Recurrent pneumothorax

scientific article published on 01 May 2011

Refinement of the X-linked cataract locus (CXN) and gene analysis for CXN and Nance-Horan syndrome (NHS).

scientific article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply.

scientific article published on 15 February 2018

Risk of breast cancer in male BRCA2 carriers

scientific article published on 28 June 2010

Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations

scientific article published on 01 June 2012

SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity.

scientific article

SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice

scientific article published on 15 July 2019

SLIT2 axon guidance molecule is frequently inactivated in colorectal cancer and suppresses growth of colorectal carcinoma cells

scientific article published on March 2003

SLIT2 promoter methylation analysis in neuroblastoma, Wilms' tumour and renal cell carcinoma

scientific article published on January 2004

SLIT2, a human homologue of the Drosophila Slit2 gene, has tumor suppressor activity and is frequently inactivated in lung and breast cancers

scientific article (publication date: 15 October 2002)

Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

scientific article published in December 2010

Stability of the CpG island methylator phenotype during glioma progression and identification of methylated loci in secondary glioblastomas

scientific article

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

scientific article published on July 2017

Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice

scientific article published on 20 July 2006

TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis ⬇️

scientific article published on January 1, 2012

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

scientific article

Telomerase reverse transcriptase promoter mutations in tumors originating from the adrenal gland and extra-adrenal paraganglia

scientific article

The Birmingham Registry for Twin and Heritability Studies (BiRTHS).

scientific article

The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

scientific journal article

The RASSF8 candidate tumor suppressor inhibits cell growth and regulates the Wnt and NF-kappaB signaling pathways.

scientific article published on 31 May 2010

The changing face and implications of childhood obesity.

scientific article

The development of a clinical screening instrument for tumour predisposition syndromes in childhood cancer patients

scientific article

The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

scientific article published on 06 September 2011

The novel RASSF6 and RASSF10 candidate tumour suppressor genes are frequently epigenetically inactivated in childhood leukaemias

scientific article

The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation

scientific article

The pressure rises: update on the genetics of phaeochromocytoma

scientific article

The t(1;3) breakpoint-spanning genes LSAMP and NORE1 are involved in clear cell renal cell carcinomas

scientific article (publication date: November 2003)

The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

scientific article

The tumor suppressor gene FBXW7 is disrupted by a constitutional t(3;4)(q21;q31) in a patient with renal cell cancer

scientific article

The use of folded melolabial interpolation flaps to repair full thickness distal nasal defects: A review of technique and results

The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma

scientific article

Therapeutic targeting the loss of the birt-hogg-dube suppressor gene

scientific article published on January 2011

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

scientific article

Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community.

scientific article published on 6 May 2013

Transcriptional regulation of cyclin A2 by RASSF1A through the enhanced binding of p120E4F to the cyclin A2 promoter

scientific article

Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility

scientific article published on 01 March 2018

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

scientific article

Tumor suppressor activity and epigenetic inactivation of hepatocyte growth factor activator inhibitor type 2/SPINT2 in papillary and clear cell renal cell carcinoma

scientific article

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

scientific article published on 31 January 2018

Tumour specific promoter region methylation of the human homologue of the Drosophila Roundabout gene DUTT1 (ROBO1) in human cancers

scientific article (publication date: 2 May 2002)

UBE2QL1 is disrupted by a constitutional translocation associated with renal tumor predisposition and is a novel candidate renal tumor suppressor gene

scientific article

VHL mutation analysis in patients with isolated central nervous system haemangioblastoma.

scientific article

VHL, the story of a tumour suppressor gene

scientific article

VHL-dependent regulation of a β-dystroglycan glycoform and glycogene expression in renal cancer

scientific article published on 21 August 2013

Von Hippel-Lindau Disease

scientific article published on 01 December 2004

Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

scientific article published on 25 April 2016

Von Hippel-Lindau disease and endocrine tumour susceptibility

scientific article

Whole-exome-sequencing-based discovery of human FADD deficiency

scientific article

Whole-genome sequencing of patients with rare diseases in a national health system

scientific article published on 24 June 2020

X-linked cataract and Nance-Horan syndrome are allelic disorders

scientific article published on 04 May 2009

X-linked cone dystrophy caused by mutation of the red and green cone opsins

scientific article

von Hippel-Lindau disease: a clinical and scientific review

scientific article

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