Jennie Murray
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View article: Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE Open
View article: Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE
Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: Results from EMBRACE Open
Background Carriers of germline pathogenic variants (PVs) in the BRCA1 and BRCA2 genes are at higher risk of developing breast and ovarian cancer than the general population. It is unclear if these PVs influence other breast or ovarian can…
View article: Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia
Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia Open
Background Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in >50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lo…
View article: Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice
Joint ABS-UKCGG-CanGene-CanVar consensus regarding the use of CanRisk in clinical practice Open
View article: Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus
Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus Open
Background Mismatch repair deficiency (dMMR) is a characteristic feature of cancers linked to Lynch syndrome. However, in most cases, it results from sporadic somatic events rather than hereditary factors. The term ‘Lynch-like syndrome’ (L…
View article: High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia
High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia Open
Aim Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in more than 50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and …
View article: Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome
Clinical practice guidelines for the diagnosis and surveillance of BAP1 tumour predisposition syndrome Open
View article: Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium Open
View article: UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i>
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: <i>RAD51C</i>, <i>RAD51D</i>, <i>BRIP1</i> and <i>PALB2</i> Open
Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1 , BRCA2 , MLH1 , MSH2 , MSH6 , BRIP1 , PALB2 , RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear g…
View article: MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency Open
View article: Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome
Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome Open
Material Linked-read whole genome sequencing (WGS) presents a new opportunity for cost-efficient singleton sequencing in place of traditional trio-based designs while generating informative-phased variants, effective for recessive disorder…
View article: Biallelic variants in <i>DNA2</i> cause microcephalic primordial dwarfism
Biallelic variants in <i>DNA2</i> cause microcephalic primordial dwarfism Open
Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterized by the extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD-associated genes play important roles in…
View article: DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency Open
View article: Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis Open
View article: Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism Open
To ensure efficient genome duplication, cells have evolved numerous factors that promote unperturbed DNA replication and protect, repair and restart damaged forks. Here we identify downstream neighbor of SON (DONSON) as a novel fork protec…
View article: Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis Open
Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, sister chromatid disentanglement, and maintenance of mitotic chrom…
View article: Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis Open
View article: Expanding the genetics of microcephalic primordial dwarfism
Expanding the genetics of microcephalic primordial dwarfism Open
Body mass varies considerably between different mammals and this variation is
\nlargely accounted for by a difference in total cell number rather than individual cell
\nsize. Insights into mechanisms regulating growth can therefore be gain…
View article: Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism Open