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Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis
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Phenotypic characterisation of SMAD4 variant carriers
Phenotypic characterisation of SMAD4 variant carriers
WHAT IS ALREADY KNOWN ON THIS TOPICBoth hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS)...
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
Novel mutation leading to splice donor loss in a conserved site of DMD gene causes Duchenne muscular dystrophy with cryptorchidism
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSUsing rare variant and genetic burden analysis, we identified candi...
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death
ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death
IntroductionBiallelic complete loss-of-function variants in ZFYVE19 (MIM *619635) are associated with a type of progressiv...
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein
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Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus
Heterozygous deletion of HOXC10-HOXC9 causes lower limb abnormalities in congenital vertical talus
Genes involved in limb patterning are sensitive to the gene dosage effect.1 In this brief communication, we examine the po...
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression
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Expanded targeted preconception screening panel in Israel: findings and insights
Expanded targeted preconception screening panel in Israel: findings and insights
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Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Schaaf-Yang syndrome (SYS) is an ultra-rare neurodevelopmental disorder caused by truncating mutations in MAGEL2. Heterolo...
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers
Comprehensive preimplantation genetic testing for balanced insertional translocation carriers
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Variant classification changes over time in the clinical molecular diagnostic laboratory setting
Variant classification changes over time in the clinical molecular diagnostic laboratory setting
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Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar
Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar
The National Health Service (NHS) in the UK is a publicly funded entity, and decisions regarding allocation of scarce reso...
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations
Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations
MUTYH-associated polyposis (MAP) is an autosomal recessive condition caused by biallelic constitutional pathogenic varian...
Systematic reanalysis of copy number losses of uncertain clinical significance
Systematic reanalysis of copy number losses of uncertain clinical significance
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Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation
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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis
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Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
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Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service
IntroductionWithin the English National Health Service (NHS), all people with motor neuron disease (pwMND) are eligible fo...
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
WHAT IS ALREADY KNOWN ON THIS TOPICHOW THIS STUDY MIGHT AFFECT RESEARCH, PRACTICE OR POLICYThe ZFHX3 gene is a novel patho...
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
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Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis
IntroductionScoliosis, characterized by a lateral curvature of the spine, represents a multifactorial disorder highly infl...
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene
IntroductionTalipes equinovarus (TEV (MIM: 119800)), or clubfoot, is a structural abnormality of leg, ankle and foot, resu...
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability
WHAT IS ALREADY KNOWN ON THIS TOPICPlexins are large transmembrane proteins that act as receptors for the semaphorin famil...
BRCA awareness and testing experience in the UK Jewish population: a qualitative study
BRCA awareness and testing experience in the UK Jewish population: a qualitative study
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Extent of investigation and management of cases of 'unexplained mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
Extent of investigation and management of cases of 'unexplained mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
IntroductionLynch syndrome is defined by the identification of constitutional pathogenic variants in four mismatch repair ...
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
IntroductionRubinstein-Taybi syndrome (RTS) (MIM (Mendelian Inheritance in Man) #180849; #613684; #610543) is a multisyste...
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study
WHAT IS ALREADY KNOWN ON THIS TOPICCurrently available enzyme replacement therapies (ERTs) benefit patients with Fabry dis...
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study--determination of immunogenicity
Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study--determination of immunogenicity
With great interest, we followed the recent studies by Linhart and colleagues1 as well as Wallace and colleagues.2 Especia...
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study - determination of immunogenicity
Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study - determination of immunogenicity
We appreciate the commentary by Lenders and Brand1 that addressed the determination of immunogenicity of pegunigalsidase a...
Genotype and phenotype correlation of PHACTR1-related neurological disorders
Genotype and phenotype correlation of PHACTR1-related neurological disorders
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