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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
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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
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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
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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
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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
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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
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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?
In 1997, the Journal of Medical Genetics published our paper on the spectrum of clinical features associated with intersti...
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
Clinical and mutational signatures of CRB1-associated retinopathies: a multicentre study
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Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation
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Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes
AbstractPrader-Willi syndrome (PWS) and Angelman syndrome (AS) are imprinting disorders caused by genetic or epigenetic ab...
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy
MethodsCentresWe selected the 15 participating LICE centres based on several criteria, including geographic coverage acros...
Charis Eng: an appreciation
Charis Eng: an appreciation
Dr Charis Eng (17 January 1962–13 August 2024) was a distinguished clinician-scientist whose contributions in research, cl...
Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder
Six at Sixty. Commentary on identification of the PTEN gene as a major contributor to autism spectrum disorder
In 2005, the genetic aetiology of autism was considered elusive. Occasionally individuals with overgrowth disorders and ha...
JMG in 2025
JMG in 2025
We begin 2025 by looking back at the contribution of Charis Eng, a distinguished cancer geneticist and former North Americ...
Authors response to the commentary by Kivela et al on Hany et al (2024)
Authors response to the commentary by Kivela et al on Hany et al (2024)
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Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates
Joubert syndrome (JS) is an inherited neurodevelopmental ciliopathy with wide clinical and genetic heterogeneity, whose pa...
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females
Introduction WD repeat domain 45 (WDR45) is located on Xp11.23 and encodes a protein that functions in the autophagy pathw...
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper
Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited tumour predisposition syndrome caused by pathogenic vari...
Classification of PTEN germline non-truncating variants: a new approach to interpretation
Classification of PTEN germline non-truncating variants: a new approach to interpretation
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Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study
WHAT IS ALREADY KNOWN ON THIS TOPICExisting evidence describes how universal reflex mismatch repair tumour testing, compar...
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression
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