Eamonn R. Maher
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View article: Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome
Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome Open
Context Since the original discovery of the Pacak-Zhuang syndrome (PZS) in 2012, defined by the clinical triad of pheochromocytoma/paraganglioma (PPGL) and/or duodenal ampullar somatostatinoma with erythrocytosis, multiple multisystemic ph…
View article: Multiple [18-F]-Fluorodeoxyglucose-Avid Dermatofibromas Mimicking Cutaneous Metastasis: A Case Report Highlighting a Diagnostic Pitfall in Dermatology
Multiple [18-F]-Fluorodeoxyglucose-Avid Dermatofibromas Mimicking Cutaneous Metastasis: A Case Report Highlighting a Diagnostic Pitfall in Dermatology Open
Introduction: Dermatofibromas are benign skin tumors that are typically diagnosed clinically without the need for biopsy. While they are not commonly associated with PET imaging findings, they have been occasionally reported to exhibit FDG…
View article: Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability
Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability Open
Background: Germline pathogenic variants in NSD1 cause Sotos syndrome, a developmental disorder characterised by overgrowth, intellectual disability, macrocephaly, developmental anomalies, and, in some cases, tumour development. Familial c…
View article: Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer Open
These data provide quantitative measures for very rare missense and truncating variants in FH, which reflect the differing phenotypic specificity of HLRCC and renal cancer and may be applicable in clinical variant classification.
View article: Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease
Multi-Platform Curation in the Development of ACMG/AMP Specifications for Von Hippel Lindau (VHL) Disease Open
Introduction The Clinical Genome Resource (ClinGen) Von Hippel-Lindau (VHL) Variant Curation Expert Panel (VCEP) has created variant classification specifications tailored to the VHL gene, including phenotype-driven and evidence-based crit…
View article: Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations Open
Multiple primary tumours (MPT) is a risk factor for an underlying predisposition to cancer. Renal cell carcinoma (RCC) occurs in several hereditary cancer disorder syndromes, and RCC‐related MPT comprise individuals with multiple primary r…
View article: Yeast MoClo secretion and surface display toolkit 2.0: improvements and applications for analysis of protein-protein interactions and whole-cell biocatalysis
Yeast MoClo secretion and surface display toolkit 2.0: improvements and applications for analysis of protein-protein interactions and whole-cell biocatalysis Open
Saccharomyces cerevisiae is an invaluable model organism for both fundamental biological research and biotechnological applications including recombinant protein production as well as protein and metabolic engineering. We previously develo…
View article: Germline variants in <i>UHRF1</i> are associated with multilocus imprinting disturbance in humans and mice
Germline variants in <i>UHRF1</i> are associated with multilocus imprinting disturbance in humans and mice Open
The investigation of congenital imprinting disorders (CIDs) provides opportunities to elucidate the molecular mechanisms and role of genomic imprinting in development and human disease. Beckwith–Wiedemann spectrum (BWSp) is a prototypic CI…
View article: Inherited Susceptibility to Cancer: Past, Present and Future
Inherited Susceptibility to Cancer: Past, Present and Future Open
Germline pathogenic variants (GPVs, ‘mutations’) causing inherited susceptibility to certain cancers (cancer susceptibility genes, CSGs) broadly belong to one of two main classes—loss of function variants in tumour suppressor genes (TSGs) …
View article: Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity
Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity Open
Genes and Health (G&H) is a biomedical study of adult British-Pakistani and -Bangladeshi research volunteers enriched for autozygosity. We performed whole exome sequencing in 44,028 G&H participants, establishing the largest publicly avail…
View article: Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohorts
Inherited predisposition to pneumothorax: estimating the frequency of Birt-Hogg-Dub� syndrome from genomics and population cohorts Open
Birt-Hogg-Dub� syndrome (BHDS) is the most common monogenic cause of pneumothorax. Most affected families have pathogenic variants in the FLCN gene. Using large genomic registries (UK Biobank (UKB), 100,000 Genomes Project and East London …
View article: Genotype-specific neoplastic risk profiles in patients with VHL disease
Genotype-specific neoplastic risk profiles in patients with VHL disease Open
Hereditary tumor predisposition syndromes pose a challenge for early detection and timely treatment of tumors. In von Hippel–Lindau disease, desirable personalized surveillance programs are lacking due to insufficient data on genotype-spec…
View article: Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline<i>FH</i>variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer Open
Purpose Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH . This paper quantitatively weights the phenotypic context (PP4/PS4) of such ver…
View article: The impact of the new WHO classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma
The impact of the new WHO classification of renal cell carcinoma on the diagnosis of hereditary leiomyomatosis and renal cell carcinoma Open
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is caused by heterozygous germline variants in the fumarate hydratase (FH) gene. Inheritance follows an autosomal dominant pattern. Loss of FH confers a predisposition for…
View article: ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome
ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome Open
Birt-Hogg-Dubé syndrome (BHD syndrome) is an autosomal dominant multisystem disorder with variable expression due to pathogenic constitutional variants in the FLCN gene. Patients with BHD syndrome are predisposed to benign cutaneous fibrof…
View article: Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report Open
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer predisposition genes. TRIM28 has recently been identified as one such gene. Previously, observational…
View article: P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel
P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel Open
Von Hippel-Lindau (VHL) disease is a hereditary tumor predisposition syndrome caused by variants in the VHL gene and has an incidence of ∼1/36,000. The Clinical Genome Resource (ClinGen) VHL Variant Curation Expert Panel (VCEP) recently sp…
View article: When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis
When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta‐analysis Open
Objective Determine the incremental yield of prenatal exome sequencing (PES) over chromosome microarray (CMA) and/or karyotype for urinary tract malformations (UTMs). Method A prospective cohort study encompassing data from the English Gen…