| Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype |
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| Increased<i>TBX6</i>gene dosages induce congenital cervical vertebral malformations in humans and mice |
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| Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort |
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✓ |
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✓ |
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white European |
| Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma |
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| Mutations in gene regulatory elements linked to human limb malformations |
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| A novel autosomal recessive lipodystrophy syndrome due to homozygous<i>LMNA</i>variant |
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✓ |
✓ |
Hispanic |
| Gene editing prospects for treating inherited retinal diseases |
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| Linked-read genome sequencing identifies biallelic pathogenic variants in <i>DONSON</i> as a novel cause of Meier-Gorlin syndrome |
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| Retesting of women who are negative for a<i>BRCA1</i>and<i>BRCA2</i>mutation using a 20-gene panel |
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| Three-step site-directed mutagenesis screen identifies pathogenic <i>MLH1</i> variants associated with Lynch syndrome |
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| Genetic variability and potential effects on clinical trial outcomes: perspectives in Parkinson’s disease |
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✓ |
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5851 patients with Parkinson’s disease of European ancestry data |
| Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia |
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| Cardiac valve involvement in <i>ADAR</i>-related type I interferonopathy |
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| Review of: ‘Bone dysplasia—an atlas of genetic disorders of skeletal development (fourth edition)’ Edited by: Jürgen W Spranger, Paula W Brill, Christine Hall, Gen Nishimura, Andrea Superti-Furga, She |
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| Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex |
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| Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic<i>TP53</i>mutation carriers: a case-controlled study (SIGNIFY) |
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| Homozygous mutations in <i>REC114</i> cause female infertility characterised by multiple pronuclei formation and early embryonic arrest |
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| <i>NEK11</i> as a candidate high-penetrance melanoma susceptibility gene |
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✓ |
✓ |
Dutch family |
| Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach |
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| Novel phenotypes observed in patients with<i>ETV6</i>-linked leukaemia/familial thrombocytopenia syndrome and a biallelic<i>ARID5B</i>risk allele as leukaemogenic cofactor |
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| Intronic<i>SMCHD1</i>variants in FSHD: testing the potential for CRISPR-Cas9 genome editing |
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| Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development |
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| Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy |
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| Risk of metastatic pheochromocytoma and paraganglioma in <i>SDHx</i> mutation carriers: a systematic review and updated meta-analysis |
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| Review of the scientific evolution of gene therapy for the treatment of homozygous familial hypercholesterolaemia: past, present and future perspectives |
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| Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with <i>APC</i> mutation at the extreme 3′-end |
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| Increasing knowledge in <i>IGF1R</i> defects: lessons from 35 new patients |
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| Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia |
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| Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies |
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| Recurrent homozygous damaging mutation in <i>TMX2</i>, encoding a protein disulfide isomerase, in four families with microlissencephaly |
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| Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic status |
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| Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease |
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| Impact of DNA source on genetic variant detection from human whole-genome sequencing data |
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| Distal hereditary motor neuronopathy of the Jerash type is caused by a novel <i>SIGMAR1</i> c.500A>T missense mutation |
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| Germline <i>BRCA1</i> and <i>BRCA2</i> testing for breast cancer survivors |
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| Enrichment of damaging missense variants in genes related with axonal guidance signalling in sporadic Meniere’s disease |
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✓ |
✓ |
Spanish |
| High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers |
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| Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy |
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| Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD) |
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| Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome |
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| Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency |
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| Biallelic mutations in<i>CFAP65</i>cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice |
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✓ |
✓ |
Han Chinese; Tunisian; Iranian ancestries; various human populations |
| Genetic aetiology of early infant deaths in a neonatal intensive care unit |
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| Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma–paraganglioma |
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| Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelines |
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| Open questions on the nature of Parkinson’s disease: from triggers to spreading pathology |
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| Differential disruption of autoinhibition and defect in assembly of cytoskeleton during cell division decide the fate of human<i>DIAPH1</i>-related cytoskeletopathy |
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| Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice |
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| Postzygotic mosaicism in cerebral cavernous malformation |
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| <i>De novo</i> SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures |
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| <i>De novo</i> variants in <i>SLC12A6</i> cause sporadic early-onset progressive sensorimotor neuropathy |
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| Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions |
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| Biallelic mutations in<i>CFAP65</i>lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations |
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✓ |
✓ |
Chinese |
| Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome |
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| Long-read sequencing identified repeat expansions in the 5′UTR of the<i>NOTCH2NLC</i>gene from Chinese patients with neuronal intranuclear inclusion disease |
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✓ |
✓ |
Chinese; Japanese |
| ‘Metaphyseal dysplasia without hypotrichosis’ can present with late-onset extraskeletal manifestations |
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| Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies |
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| Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicity |
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| Truncating mutations in exons 20 and 21 of<i>OFD1</i>can cause primary ciliary dyskinesia without associated syndromic symptoms |
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✓ |
✓ |
Polish |
| Segregation of two variants suggests the presence of autosomal dominant and recessive forms of <i>WFS1</i>-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome |
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| <i>RASA1</i>mosaic mutations in patients with capillary malformation-arteriovenous malformation |
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| CCMG practice guideline: laboratory guidelines for next-generation sequencing |
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| Reasons for and time to retraction of genetics articles published between 1970 and 2018 |
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| One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene |
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| Clinical features and cancer risk in families with pathogenic<i>CDH1</i>variants irrespective of clinical criteria |
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| SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase doma |
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| <i>JMG</i>in 2019: looking forward, looking back |
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| Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns |
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✓ |
✓ |
Finns |
| Genetic T-type calcium channelopathies |
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| Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients |
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✓ |
✓ |
Japanese; East Asian; non-East Asian; East Asian-specific; Japanese population |
| <i>TNFRSF21</i> mutations cause high myopia |
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✓ |
✓ |
Chinese (uses phrases 'A large Chinese family' and 'Chinese population') |
| New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype–phenotype profiling of<i>SRD5A2</i>in 190 Chinese patients |
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| Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-<i>BRCA1/2</i>breast cancer families |
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| Familial bilateral cryptorchidism is caused by recessive variants in<i>RXFP2</i> |
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| Loss-of-function mutations in SPEF2 cause multiple morphological abnormalities of the sperm flagella (MMAF) |
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| Pathogenic variants in <i>PLOD3</i> result in a Stickler syndrome-like connective tissue disorder with vascular complications |
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| Gastric cancer in Lynch syndrome is associated with underlying immune gastritis |
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| Homozygous mutations in<i>SPEF2</i>induce multiple morphological abnormalities of the sperm flagella and male infertility |
|
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|
|
✓ |
✓ |
Han Chinese; Iranian |
| Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era |
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| Prevalence of germline pathogenic <i>BRCA1/2</i> variants in sequential epithelial ovarian cancer cases |
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| Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases |
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| Structural Aberrations with Secondary Implications (SASIs): consensus recommendations for reporting of cancer susceptibility genes identified during analysis of Copy Number Variants (CNVs) |
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| Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex develo |
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| Bi-allelic loss of function variants of<i>TBX6</i>causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis |
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| Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy |
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| Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy |
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|
✓ |
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| A novel mutation in the<i>GFAP</i>gene expands the phenotype of Alexander disease |
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| Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African–American youth |
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|
|
✓ |
✓ |
✓ |
children of European ancestry; Hispanic American; African–American |
| Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA |
|
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| Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883) |
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| Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report |
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| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders |
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| Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation |
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| Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variants |
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| Genetic linkage analysis of a large family identifies <i>FIGN</i> as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension |
|
|
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|
|
|
✓ |
✓ |
Iberian; Iberian family |
| Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report |
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| Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma |
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| Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome |
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| Mutations in <i>NLRP2</i> and <i>NLRP5</i> cause female infertility characterised by early embryonic arrest |
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| Evidence for heightened genetic instability in precancerous spasmolytic polypeptide expressing gastric glands |
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| Promising member of the short interspersed nuclear elements (<i>Alu</i> elements): mechanisms and clinical applications in human cancers |
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| Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review |
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| Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing |
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| <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia |
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| Parkinson’s disease GWAS-linked Park16 carriers show greater motor progression |
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| Genotype–phenotype correlations in ataxia telangiectasia patients with <i>ATM</i> c.3576G>A and c.8147T>C mutations |
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| Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes |
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| Distal chromosome 16p11.2 duplications containing <i>SH2B1</i> in patients with scoliosis |
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| Contribution of spurious transcription to intellectual disability disorders |
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| Associations of CDH1 germline variant location and cancer phenotype in families with hereditary diffuse gastric cancer (HDGC) |
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| Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients |
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| Genetic diagnosis of subfertility: the impact of meiosis and maternal effects |
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| <i>H2AFY</i> promoter deletion causes <i>PITX1</i> endoactivation and Liebenberg syndrome |
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| Features, genetics and their correlation in Jalili syndrome: a systematic review |
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| Diagnosis of ‘possible’ mitochondrial disease: an existential crisis |
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| <i>SMAD3</i>pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium |
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| Clinical spectrum and pleiotropic nature of<i>CDH1</i>germline mutations |
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