SCI Abstract

search
+
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
Commentary on Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant
Hiding in plain sight: a partial deletion of BRCA1 exon 7 undetectable by MLPA is a Nepali founder variant
Multiplex ligation-dependent probe amplification (MLPA) has been used diagnostically for the BRCA1/BRCA2 genes for >20 ...
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers
Validation of the NCCN/Yale criteria for the identification of CDH1 pathogenic variant carriers
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals
Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)
The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023-2024)
IntroductionPeople of Jewish ancestry have an increased carrier frequency of germline pathogenic variants (gPVs) in BRCA1 ...
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium
Aortic and arterial manifestations and clinical features in TGFB3-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series
Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series
Abstract AKT1-related Proteus syndrome is an ultra-rare mosaic overgrowth disorder with tumour predisposition. We conducte...
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
Unveiling non-coding DMD variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics
Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics
IntroductionConstitutional genetic testing currently uses a wide range of standard-of-care (SOC) methods to detect possibl...
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature
Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature
IntroductionNeurofibromatosis–Noonan syndrome (NFNS) (OMIM 601321) is an extremely rare genetic entity described for the f...
Foecal incontinence disorders in Wolfram syndrome: a new manifestation
Foecal incontinence disorders in Wolfram syndrome: a new manifestation
Type 1 Wolfram syndrome (WS) (MIM#222300) is a rare, autosomal recessive neurodegenerative pathology due to mutation of th...
A tandem duplication of exon 42 of the DMD gene is a likely benign variant
A tandem duplication of exon 42 of the DMD gene is a likely benign variant
Deletions and duplications of DMD exons are detected in 75–88% of probands with Duchenne or Becker muscular dystrophy (D/B...
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3
KIF21A encodes a kinesin motor protein associated with isolated congenital fibrosis of the extraocular muscles (CFEOM), wh...
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities
Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies
IntroductionThe transcription factor activator protein 2 (TFAP2) family consists of five genes TFAP2 A–E that are closely ...
Six at Sixty. 'Have you tested for 22q?
Six at Sixty. 'Have you tested for 22q?
This paper was a multicentre study aimed at a survey of the clinical phenotypes associated with deletion of 22q11.2 (22q11...
Genetics of prostate cancer: a review of latest evidence
Genetics of prostate cancer: a review of latest evidence
The UK Cancer Genomic National Test Directory outlines eligibility for genomic testing funded by the NHS. The directory wa...
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline genetic testing for pathogenic variants (PVs) in breast cancer (BC) genes is currently triggered by algorithms th...
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
MITF c.952G>A (p.E318K) (the variant nomenclature is reported by MANE Plus Clinical as MITF NM_000248.4:c.952G>A (p...
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Recently, Hany et al 1 found that several heterozygous COL17A1 variants caused dominantly inherited, non-syndromic ameloge...
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Cleara...
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
WHAT IS ALREADY KNOWN ON THIS TOPICPrevious studies have shown that pathogenic variants in genes encoding triad proteins l...
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification
WHAT IS ALREADY KNOWN ON THIS TOPIC The 2015 American College of Medical Genetics/Association of Molecular Pathology (ACMG...
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
We aim to describe double gonosomal mosaicism in the GRIN2A gene in a mother who passed on two different pathogenic varian...
Load More
format_indent_increase