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De novo variants in KCNJ3 are associated with early-onset epilepsy
De novo variants in KCNJ3 are associated with early-onset epilepsy
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Next generation of free? Points to consider when navigating sponsored genetic testing
Next generation of free? Points to consider when navigating sponsored genetic testing
Genetics has been integrated into patient care across many subspecialties. However, genetic and genomic testing (GT) remai...
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey
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Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
Ancestry, race and ethnicity: the role and relevance of language in clinical genetics practice
WHAT IS ALREADY KNOWN ON THIS TOPICPeople are asked to answer questions about ethnicity in many walks of life.In the UK th...
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
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Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
Non-coding CGG repeat expansion in LOC642361/NUTM2B-AS1 is associated with a phenotype of oculopharyngodistal myopathy
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Familial Alzheimers disease associated with heterozygous NPC1 mutation
Familial Alzheimers disease associated with heterozygous NPC1 mutation
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Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: a multisite retrospective study
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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta
IntroductionCollagen type XVII alpha 1 chain (COL17A1), hereafter referred to as collagen XVII, is a hemidesmosomal transm...
Titin copy number variations associated with dominant inherited phenotypes
Titin copy number variations associated with dominant inherited phenotypes
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Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
IntroductionOver the past 10 years, SMAD6 haploinsufficiency has been reported to be significantly associated with discret...
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400
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Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries
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Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals
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Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO
Risk-reducing decisions regarding germline BRCA pathogenic variant: focusing on the timing of genetic testing and RRSO
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSThis study demonstrates the importance of the past/present of HBOC ...
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects
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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
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Variant reclassification and clinical implications
Variant reclassification and clinical implications
IntroductionThe importance of accurate molecular genetic diagnoses for patients has been emphasised in light of the expans...
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome
ResultsVariants in known EDS, HTAD, GJH associated syndromes and known Mendelian entities with EDS symptomatology were cor...
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
Congenital anaemia associated with loss-of-function variants in DNA polymerase epsilon 1
IntroductionDNA replication is an accurate process governed by a multi-protein complex, named a ‘replisome’, which unwinds...
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSThis is the first dedicated whole genome sequencing (WGS) study of ...
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
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Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma
Risk perception and surveillance uptake in individuals at increased risk for pancreatic ductal adenocarcinoma
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CCDC66 mutations are associated with high myopia through affected cell mitosis
CCDC66 mutations are associated with high myopia through affected cell mitosis
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Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
Mosaic BRCA1 promoter methylation contribution in hereditary breast/ovarian cancer pedigrees
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Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
Reduced penetrance of gene variants causing amyotrophic lateral sclerosis
IntroductionAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease affecting upper and lower motor...
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essen...
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
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