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Update of penetrance estimates in Birt-Hogg-Dube syndrome
Update of penetrance estimates in Birt-Hogg-Dube syndrome
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Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSIncluding the PRS313 in addition to family history-based risk predi...
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals
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Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
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MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
MRM2 variants in families with complex dystonic syndromes: evidence for phenotypic heterogeneity
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Axenfeld-Rieger syndrome: more than meets the eye
Axenfeld-Rieger syndrome: more than meets the eye
IntroductionAxenfeld-Rieger syndrome (ARS) is a well-known ocular disorder characterised by a combination of typical ocula...
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome
WHAT IS ALREADY KNOWN ON THIS TOPICThe Retriever subunit VPS35L is the third responsible gene for Ritscher-Schinzel syndro...
Prevalence of Fabry disease-causing variants in the UK Biobank
Prevalence of Fabry disease-causing variants in the UK Biobank
WHAT IS ALREADY KNOWN ON THIS TOPICWHAT THIS STUDY ADDSThis is one of the largest Fabry screening efforts ever undertaken ...
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
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A founder UMOD variant is a common cause of hereditary nephropathy in the British population
A founder UMOD variant is a common cause of hereditary nephropathy in the British population
WHAT IS ALREADY KNOWN ON THIS TOPICA rare uromodulin (UMOD) variant was first reported in a UK pedigree with familial neph...
Histones: coming of age in Mendelian genetic disorders
Histones: coming of age in Mendelian genetic disorders
Histones hold significant interest in development and genetic disorders due to their critical roles in chromatin dynamics,...
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia
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Decision-making and regret in patients with germline CDH1 variants undergoing prophylactic total gastrectomy
Decision-making and regret in patients with germline CDH1 variants undergoing prophylactic total gastrectomy
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Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
Genetic architecture in neonatal intensive care unit patients with congenital heart defects: a retrospective study from the China Neonatal Genomes Project
AbstractBackground Congenital heart defects (CHDs) are the most common type of birth defects. The genetic aetiology of CHD...
FSIP2 plays a role in the acrosome development during spermiogenesis
FSIP2 plays a role in the acrosome development during spermiogenesis
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Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study
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Refining nosology by modelling variation among facial phenotypes: the RASopathies
Refining nosology by modelling variation among facial phenotypes: the RASopathies
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Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
Detection of cryptic balanced chromosomal rearrangements using high-resolution optical genome mapping
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Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree
Identification of RNF13 as cause of recessively inherited ALS in a multi-case pedigree
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Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China
Cystic fibrosis (CF) is the most frequent monogenic disease in Caucasian populations, with incidences ranging from 1/1800 ...
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
Introduction SDHA likely pathogenic or pathogenic germline variants (ie, class 4 or class 5 variants according to ACMG/AMP...
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing
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Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study
Key messagesWhat is already known on this topicIncreased ovarian cancer risk among first-degree relatives of ovarian cance...
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
In this brief communication, we address the possible associations of a 132 bp deletion within the antisense gene KCNQ1OT1 ...
Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction
Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction
In the articles linked to this commentary and also published by the Journal of Medical Genetics, two groups independently ...
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility
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A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
IntroductionSilver-Russell syndrome (SRS) is a rare inherited disorder characterised by phenotypic features such as growth...
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
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