JOURNAL OF MEDICAL GENETICS

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma

Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC)

Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice

H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome

Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families

Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

Impact of DNA source on genetic variant detection from human whole-genome sequencing data

Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)

Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation

Gene editing prospects for treating inherited retinal diseases

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

Reasons for and time to retraction of genetics articles published between 1970 and 2018

Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns

Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

Increasing knowledge in IGF1R defects: lessons from 35 new patients

Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene

Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of SRD5A2 in 190 Chinese patients

De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy

Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review

Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations

Genetic diagnosis of subfertility: the impact of meiosis and maternal effects

Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome

Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression

Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human DIAPH1-related cytoskeletopathy

Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs)

Genetic linkage analysis of a large family identifies FIGN as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension

Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3′-end

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant

Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features

Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome

Mutations in gene regulatory elements linked to human limb malformations

Contribution of spurious transcription to intellectual disability disorders

JMG in 2019: looking forward, looking back