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Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry
Disease burden by ALPL variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSPatients who first manifest signs and symptoms of HPP after 6 month...
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
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Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
Lateralised overgrowth (LO) is characterised by the asymmetric increase in the size of any part of the body exceeding 10% ...
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
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Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in England
Parental knowledge, attitudes, satisfaction and decisional conflict regarding whole genome sequencing in the Genomic Medicine Service: a multisite survey study in England
WHAT IS ALREADY KNOWN ON THIS TOPICA diagnosis can have significant clinical as well as psychosocial benefits for patients...
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4
Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4
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Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
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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)
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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
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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
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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
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Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
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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
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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
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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...
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
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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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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops
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GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort
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ZNF142 mutation causes sex-dependent neurologic disorder
ZNF142 mutation causes sex-dependent neurologic disorder
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Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans
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