| Adult phenotype in Koolen-de Vries/<i>KANSL1</i> haploinsufficiency syndrome |
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| Calibration of polygenic risk scores is required prior to clinical implementation: results of three common cancers in UKB |
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| Deep exploration of a<i>CDKN1C</i>mutation causing a mixture of Beckwith-Wiedemann and IMAGe syndromes revealed a novel transcript associated with developmental delay |
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| Adopted individuals’ interest in elective genomic testing |
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| Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy |
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✓ |
✓ |
Chinese |
| Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis |
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| Dysfunction of VIPR2 leads to myopia in humans and mice |
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✓ |
✓ |
Chinese Han |
| Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in<i>BRCA1/2</i>: results of the observational AGO-TR1 study (NCT02222883) |
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| Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region |
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| Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma |
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✓ |
✓ |
Korean; Asian |
| Screening of CNVs using NGS data improves mutation detection yield and decreases costs in genetic testing for hereditary cancer |
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| A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1 |
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| Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations |
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| MELAS-associated m.5541C>T mutation caused instability of mitochondrial tRNA<sup>Trp</sup> and remarkable mitochondrial dysfunction |
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| Heterogeneity of PNPT1 neuroimaging: mitochondriopathy, interferonopathy or both? |
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| Canadian College of Medical Geneticists (CCMG) points to consider: resuming genetic services in a pandemic—a summary |
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| Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome |
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| Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility |
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| Using chatbots to screen for heritable cancer syndromes in patients undergoing routine colonoscopy |
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| Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies <i>KRAS</i> mutation as a biomarker of poor prognosis |
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| Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing |
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| Phenotypes in adult patients with Rett syndrome: results of a 13-year experience and insights into healthcare transition |
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| Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences |
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| Biallelic cGMP-dependent type II protein kinase gene (<i>PRKG2</i>) variants cause a novel acromesomelic dysplasia |
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| CRISPR–Cas9/long-read sequencing approach to identify cryptic mutations in <i>BRCA1</i> and other tumour suppressor genes |
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| Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics |
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| Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2 |
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| A germline 1;3 translocation disrupting the <i>VHL</i> gene: a novel genetic cause for von Hippel-Lindau |
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| Stay at home: implementation and impact of virtualising cancer genetic services during COVID-19 |
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| Blood functional assay for rapid clinical interpretation of germline <i>TP53</i> variants |
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| Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature |
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| Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma |
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| Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective |
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✓ |
✓ |
Chinese population; Europe; Finns; South Asians; 'ethnicity'; 'population' |
| Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy |
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| Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic era |
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| Ethnic-specific <i>BRCA1/2</i> variation within Asia population: evidence from over 78 000 cancer and 40 000 non-cancer cases of Indian, Chinese, Korean and Japanese populations |
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| Globotriaosylsphingosine (lyso-Gb<sub>3</sub>) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish co |
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| Biallelic variant in cyclin B3 is associated with failure of maternal meiosis II and recurrent digynic triploidy |
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| De novo mutations of <i>SCN1A</i> are responsible for arthrogryposis broadening the <i>SCN1A</i>-related phenotypes |
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| Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies |
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| Assessment of mismatch repair deficiency in ovarian cancer |
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| Constitutional de novo deletion CNV encompassing <i>REST</i> predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN) |
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| Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways |
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| Loss-of-function variants in<i>POT1</i>predispose to uveal melanoma |
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| Convergent lines of evidence support <i>NOTCH4</i> as a schizophrenia risk gene |
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| Bi-allelic <i>SHOC1</i> loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia |
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✓ |
✓ |
Two Chinese families |
| Delineation of a new fibrillin-2-opathy with evidence for a role of <i>FBN2</i> in the pathogenesis of carpal tunnel syndrome |
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| <i>RASA1</i> phenotype overlaps with hereditary haemorrhagic telangiectasia: two case reports |
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| Assessing performance of pathogenicity predictors using clinically relevant variant datasets |
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| A novel homozygous variant in <i>TRAPPC2L</i> results in a neurodevelopmental disorder and disrupts TRAPP complex function |
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✓ |
✓ |
Ashkenazi Jewish |
| Biallelic variants in <i>BRCA1</i> gene cause a recognisable phenotype within chromosomal instability syndromes reframed as BRCA1 deficiency |
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| Determinants of quality of life in Rett syndrome: new findings on associations with genotype |
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| Association between genetic polymorphisms and endometrial cancer risk: a systematic review |
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| De novo missense variants in <i>LMBRD2</i> are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features |
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| <i>CIC de novo</i> loss of function variants contribute to cerebral folate deficiency by downregulating <i>FOLR1</i> expression |
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| Frameshift mutation of <i>Timm8a1</i> gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment |
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| Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in <i>protein kinase D1</i> |
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| Pathogenic variants in<i>IMPG1</i>cause autosomal dominant and autosomal recessive retinitis pigmentosa |
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| Can population <i>BRCA</i> screening be applied in non-Ashkenazi Jewish populations? Experience in Macau population |
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| Biallelic mutations in the<i>TOGARAM1</i>gene cause a novel primary ciliopathy |
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| Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations |
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| Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy |
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| Prenatal clinical manifestations in individuals with<i>COL4A1/2</i>variants |
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| Heterozygous <i>KIF1A</i> variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders |
|
✓ |
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| Biallelic loss-of-function<i>ZFYVE19</i>mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis |
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✓ |
✓ |
Han Chinese |
| Congenital sensorineural hearing loss as the initial presentation of<i>PTPN11</i>-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms |
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| Biallelic variants in <i>ADARB1</i>, encoding a dsRNA-specific adenosine deaminase, cause a severe developmental and epileptic encephalopathy |
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| Comprehensive characteristics of somatic mutations in the normal tissues of patients with cancer and existence of somatic mutant clones linked to cancer development |
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| Otitis media susceptibility and shifts in the head and neck microbiome due to <i>SPINK5</i> variants |
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| A<i>RIPOR2</i>in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss |
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| <i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypes |
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| Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in<i>GNPNAT1</i> |
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✓ |
✓ |
Pakistani family |
| Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes |
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| Retinal nerve fibre layer thickness associates with phenylketonuria control and cognition |
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| Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits |
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| Polygenic and multifactorial scores for pancreatic ductal adenocarcinoma risk prediction |
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✓ |
|
|
European origin |
| Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study |
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| Loss of imprinting of the human-specific imprinted gene <i>ZNF597</i> causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome |
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| Sporadic vestibular schwannoma: a molecular testing summary |
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| Co-occurrence of germline <i>BRCA1</i> and <i>CDH1</i> pathogenic variants |
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| Wide range of reduced penetrance alleles in spinal and bulbar muscular atrophy: a model-based approach |
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| Clinical spectrum and genetic variations of <i>LMNA</i>-related muscular dystrophies in a large cohort of Chinese patients |
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| Defining the phenotypical spectrum associated with variants in <i>TUBB2A</i> |
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| Novel loss-of-function mutation in <i>HERC2</i> is associated with severe developmental delay and paediatric lethality |
|
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| UKCGG Consensus Group guidelines for the management of patients with constitutional<i>TP53</i>pathogenic variants |
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| Haploinsufficiency of the<i>NF1</i>gene is associated with protection against diabetes |
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|
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| Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting |
|
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|
✓ |
✓ |
Chinese Han population |
| <i>SETD1B</i>-associated neurodevelopmental disorder |
|
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|
|
| Population-based targeted sequencing of 54 candidate genes identifies<i>PALB2</i>as a susceptibility gene for high-grade serous ovarian cancer |
|
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|
✓ |
|
|
controls of broad European ancestry |
| Absence of SCAPER causes male infertility in humans and<i>Drosophila</i>by modulating microtubule dynamics during meiosis |
|
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|
✓ |
✓ |
across ethnicities |
| Treatment switch in Fabry disease- a matter of dose? |
|
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| Rare and<i>de novo</i>duplications containing<i>SHOX</i>in clubfoot |
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| <i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum |
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| Genetic and functional insights into CDA-I prevalence and pathogenesis |
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| Mutation in<i>CATIP</i>(C2orf62) causes oligoteratoasthenozoospermia by affecting actin dynamics |
|
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|
|
✓ |
✓ |
Bedouin |
| TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents |
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| Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic <i>CDKN2A</i> variants |
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|
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| Homozygous hypomorphic<i>BRCA2</i>variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait |
|
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|
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|
|
✓ |
✓ |
Turkish |
| Analysis of genotype–phenotype correlations in <i>PAX6</i>-associated aniridia |
|
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|
|
| Arterial complications in classical Ehlers-Danlos syndrome: a case series |
|
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| Prevalence of<i>BRCA1</i>/<i>BRCA2</i>pathogenic variation in Chinese Han population |
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| Integrated case-control and somatic-germline interaction analyses of soft-tissue sarcoma |
|
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|
|
European ancestry |
| Paternal 132 bp deletion affecting <i>KCNQ1OT1</i> in 11p15.5 is associated with growth retardation but does not affect imprinting |
|
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| Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome |
|
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| Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant |
|
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| Bi-allelic<i>TTC5</i>variants cause delayed developmental milestones and intellectual disability |
|
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|
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| Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features |
|
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| ‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects |
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| Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome |
|
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| De novo variants in <i>SIAH1,</i> encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features |
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| Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex |
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| Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis |
|
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| <i>De novo</i>mutations in the X-linked<i>TFE3</i>gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features |
|
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|
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| Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis |
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| Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadism |
|
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|
✓ |
✓ |
Chinese |
| Autosomal dominant polycystic kidney disease in absence of renal cyst formation illustrates genetic interaction between<i>WT1</i>and<i>PKD1</i> |
|
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| Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) |
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| Exome sequencing analysis identifies frequent oligogenic involvement and<i>FLNB</i>variants in adolescent idiopathic scoliosis |
|
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| Human X chromosome exome sequencing identifies<i>BCORL1</i>as contributor to spermatogenesis |
|
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|
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| Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients |
|
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| Understanding polygenic models, their development and the potential application of polygenic scores in healthcare |
|
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|
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| 15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connection |
|
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|
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| Uptake of pre-symptomatic testing for<i>BRCA1</i>and<i>BRCA2</i>is age, gender, offspring and time-dependent |
|
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|
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| TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms |
|
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|
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| Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study |
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|
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| Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development |
|
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| Homozygous variants in <i>SYCP2L</i> cause premature ovarian insufficiency |
|
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|
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| Low grade mosaicism in hereditary haemorrhagic telangiectasia identified by bidirectional whole genome sequencing reads through the 100,000 Genomes Project clinical diagnostic pipeline |
|
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| Identifying novel oncogenic<i>RET</i>mutations and characterising their sensitivity to RET-specific inhibitors |
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| Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology |
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| Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability |
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| Correction:<i>Reasons for and time to retraction of genetics articles published between 1970 and 2018</i> |
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| Variable expression of subclinical phenotypes instead of reduced penetrance in families with mild triphalangeal thumb phenotypes |
|
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|
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| Germline <i>RET</i> variants underlie a subset of paediatric osteosarcoma |
|
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| A homozygous<i>UBA5</i>pathogenic variant causes a fatal congenital neuropathy |
|
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| Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility |
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| Diverse types of genomic evidence converge on alcohol use disorder risk genes |
|
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| Heterogeneity of MSI-H gastric cancer identifies a subtype with worse survival |
|
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|
✓ |
✓ |
Asian |
| Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy |
|
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|
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| Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder |
|
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| Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network |
|
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| Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia |
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| Biallelic variants in <i>MAATS1</i> encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility |
|
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| Use of a rare disease registry for establishing phenotypic classification of previously unassigned <i>GLA</i> variants: a consensus classification system by a multispecialty Fabry disease genotype–phe |
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| Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome |
|
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| Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank |
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| Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation |
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| Pathogenic variants in <i>TNRC6B</i> cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD |
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| Gene discoveries in autism are biased towards comorbidity with intellectual disability |
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| Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation |
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| Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes |
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| MicroRNA-4516-mediated regulation of <i>MAPK10</i> relies on 3′ UTR <i>cis</i>-acting variants and contributes to the altered risk of Hirschsprung disease |
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| Mendelian randomisation study of the effects of known and putative risk factors on pancreatic cancer |
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| Redefinition of familial intestinal gastric cancer: clinical and genetic perspectives |
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| Investigating the genetic susceptibility to exertional heat illness |
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| Excess of singleton loss-of-function variants in Parkinson’s disease contributes to genetic risk |
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| Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood |
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| Homozygous mutations in <i>DZIP1</i> can induce asthenoteratospermia with severe MMAF |
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| Variants in <i>LRRC34</i> reveal distinct mechanisms for predisposition to papillary thyroid carcinoma |
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| Contribution of de novo and inherited rare CNVs to very preterm birth |
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| <i>CDK5RAP2</i>primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects |
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| Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp <i>HBB</i> deletion |
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| Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort |
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| ATR-16 syndrome: mechanisms linking monosomy to phenotype |
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| Germline mutations in the new E1’ cryptic exon of the <i>VHL</i> gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma |
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| Characterisation of heterozygous <i>PMS2</i> variants in French patients with Lynch syndrome |
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| Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing |
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| Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis |
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| Impacts of genomics on the health and social costs of intellectual disability |
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| Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine |
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| Cancer patients’ views and understanding of genome sequencing: a qualitative study |
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| Molecular characterisation of oncogenic urothelial mosaic mutations in patients with extensive keratinocytic epidermal naevi |
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| Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations |
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| <i>POT1</i> mutation spectrum in tumour types commonly diagnosed among <i>POT1</i>-associated hereditary cancer syndrome families |
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| The clinical relevance of intragenic <i>NRXN1</i> deletions |
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| <i>FLNC</i> truncations cause arrhythmogenic right ventricular cardiomyopathy |
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| De novo variants in <i>SUPT16H</i> cause neurodevelopmental disorders associated with corpus callosum abnormalities |
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| Xq28 copy number gain causing moyamoya disease and a novel moyamoya syndrome |
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