Contribution of de novo and inherited rare CNVs to very preterm birth.
Published in Journal of medical genetics
The genomic contribution to adverse health sequelae in babies born very preterm (
Chemoresistant pleomorphic rhabdomyosarcoma: whole exome sequencing reveals underlying cancer predisposition and therape...
...Published in Journal of medical genetics
Rhabdomyosarcoma (RMS) is rare cancer affecting children and adults. Pleomorphic RMS histology is almost exclusive to adult patients and often resistant to chemotherapy. We report the case of a 19-year-old patient who presented with a metastatic chemoresistant pleomorphic RMS. Considering the poor prognosis and the few systemic therapeutic options,...
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility.
...Published in Journal of medical genetics
Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. Previous studies revealed several MMAF-associated genes, which account for approximately 60% of human MMAF cases. The pathogenic mechanisms of MMAF remain to be illuminated. We conducted genetic analyses using whole-exo...
Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremiti...
Published in Journal of medical genetics
During mouse embryonic development the protein kinase domain containing, cytoplasmic (Pkdcc) gene, also known as Vlk, is expressed in several tissues including the ventral midbrain, with particularly strong expression in branchial arches and limb buds. Homozygous Pkdcc knockout mice have dysmorphic features and shortened long bones as the most obvi...
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled...
...Published in Journal of medical genetics
Germline TP53 gene pathogenic variants (pv) cause a very high lifetime risk of developing cancer, almost 100% for women and 75% for men. In the UK, annual MRI breast screening is recommended for female TP53 pv carriers. The SIGNIFY study (Magnetic Resonance Imaging screening in Li Fraumeni syndrome: An exploratory whole body MRI) study reported out...
Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features.
...Published in Journal of medical genetics
Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work is to expand the knowledge about this disorder by delineating phenotypic features of an unreported COPA family. A heterozygous missense variant (c.698 G>A, p.Arg233His) in COPA was identified in four members of a three-gen...
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations...
...Published in Journal of medical genetics
The genetic causes for most male infertility due to severe asthenozoospermia remain unclear. Our objective was to identify unknown genetic factors in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. We performed whole exome sequencing of 47 individuals with severe asthenozoospermia from 45 unrelated families. Mutation s...
Reasons for and time to retraction of genetics articles published between 1970 and 2018.
Published in Journal of medical genetics
Between 0.02% and 0.04% of articles are retracted. We aim to: (a) describe the reasons for retraction of genetics articles and the time elapsed between the publication of an article and that of the retraction notice because of research misconduct (ie, fabrication, falsification, plagiarism); and (b) compare all these variables between retracted med...
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic sympto...
...Published in Journal of medical genetics
Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and situs inversus. Apart from the typical forms of PCD, rare syndromic PCD forms exist. Mutations of the X-linked OFD1 gene cause several syndromic ciliopathies, including oral-facial-digital syndrome type 1, Joubert syndrome type 10...
Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibi...
Published in Journal of medical genetics
Clinical testing with chromosomal microarray (CMA) is most commonly undertaken for clinical indications such as intellectual disability, dysmorphic features and/or congenital abnormalities. Identification of a structural aberration (SA) involving a cancer susceptibility gene (CSG) constitutes a type of incidental or secondary finding. Laboratory re...
