| Reassessment and reclassification of variants of unknown significance in patients with cardiomyopathy in a specialist department |
|
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| Faecal incontinence disorders in Wolfram syndrome: a new manifestation |
|
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| Validation of the NCCN/Yale criteria for the identification of<i>CDH1</i>pathogenic variant carriers |
|
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|
✓ |
|
|
European Reference Network on Genetic Tumour Risk Syndromes; European cohort of CDH1 PV carriers |
| Hiding in plain sight: a partial deletion of<i>BRCA1</i>exon 7 undetectable by MLPA is a Nepali founder variant |
|
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| Unveiling non-coding<i>DMD</i>variants: synergising RNA sequencing and DNA sequencing for enhanced molecular diagnosis |
|
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| Predicting the likelihood of<i>BRCA1/2</i>germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals |
|
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| Aortic and arterial manifestations and clinical features in<i>TGFB3</i>-related heritable thoracic aortic disease: results from the Montalcino Aortic Consortium |
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| Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics |
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| Genomic sequencing in paediatric oncology: navigating conflicting roles and responsibilities |
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| Tumour spectrum in<i>AKT1</i>-related Proteus syndrome: a systematic review of clinical reports and series |
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| Six at Sixty. Commentary on identification of the<i>PTEN</i>gene as a major contributor to autism spectrum disorder |
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| <i>KIF21A</i>-associated peripheral neuropathy defined by impaired binding with TUBB3 |
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| Portraying the full picture of Neurofibromatosis–Noonan syndrome: a systematic review of literature |
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| Novel<i>HYLS1</i>variants associated with Joubert syndrome suggest potential genotype-phenotype correlates |
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| National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy |
|
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|
✓ |
|
|
a European country |
| Enhancing variant of uncertain significance (VUS) interpretation in neurogenetics: collaborative experiences from a tertiary care centre |
|
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| Long-read sequencing for detection and subtyping of Prader-Willi and Angelman syndromes |
|
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| Heterozygous de novo variants in<i>HSPD1</i>cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation |
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| Clinical and mutational signatures of<i>CRB1</i>-associated retinopathies: a multicentre study |
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| Six at Sixty. Malignant peripheral nerve sheath tumours in NF1: 20-year review of a highly cited paper |
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| Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing |
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| Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome |
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| <i>WDR45</i>variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females |
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| Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study |
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| Authors’ response to the commentary by Kivela<i>et al</i>on Hany<i>et al</i>(2024) |
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| Commentary on<i>Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank</i> |
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| Canadian College of Medical Geneticists: clinical practice advisory document – responsibility to recontact for reinterpretation of clinical genetic testing |
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| <i>UBTF</i>haploinsufficiency associated with<i>UBTF</i>-related global developmental delay and distinctive facial features without neuroregression |
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| K acetyltransferase 2B (<i>KAT2B</i>) variants can be responsible for early onset steroid-resistant nephrotic syndrome |
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| Classification of<i>PTEN</i>germline non-truncating variants: a new approach to interpretation |
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| Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China |
|
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|
✓ |
✓ |
Chinese, Japanese, Korean, Jewish |
| Pathogenic
<i>SATB2</i>
missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes |
|
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| Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications |
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| Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access |
|
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| Male–female phenotype correlation and dissociation related to mutations in the
<i>ARX</i>
gene |
|
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| Novel germline
<i>TP53</i>
variant (p.(Phe109Ile)) confers high risk of cancer |
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| A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease |
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| Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults |
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| The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification |
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| Biallelic variants in α-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest |
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| Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for
<i>NF2</i>
-related schwannomatosis |
|
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| Heterozygous
<i>COL17A1</i>
variants are a frequent cause of amelogenesis imperfecta |
|
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| Protein-truncating and rare missense variants in
<i>ATM</i>
and
<i>CHEK2</i>
and associations with cancer in UK Biobank whole-exome sequence data |
|
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| Loss-of-function variants in
<i>JPH1</i>
cause congenital myopathy with prominent facial and ocular involvement |
|
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| Splice site variants in the canonical donor site of
<i>MED13L</i>
exon 7 lead to intron retention in patients with
<i>MED13L</i>
syndrome |
|
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| <i>JMG</i>at 60 |
|
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| Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs) |
|
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| From onset to blindness: a comprehensive analysis of
<i>RPGR</i>
-associated X-linked retinopathy in a large cohort in China |
|
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|
| Genetics of prostate cancer: a review of latest evidence |
|
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|
|
|
✓ |
✓ |
PwPs of African descent; ethnicity |
| Genotype–phenotype correlation of
<i>SQSTM1</i>
variants in patients with amyotrophic lateral sclerosis |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Novel truncating germline variant reinforces
<i>TINF2</i>
as a susceptibility gene for familial non-medullary thyroid cancer |
|
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| Is renal cell carcinoma associated with
<i>MITF</i>
c.952G>A (p.E318K)? |
|
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|
| Double gonosomal mosaicism as an unusual hereditary mechanism in familial
<i>GRIN2A</i>
-related disorder |
|
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|
|
| Developmental dysplasia of the hip caused by homozygous
<i>TRIM33</i>
pathogenic variant affecting downstream BMP pathway |
|
|
|
|
|
|
✓ |
✓ |
Bedouin |
| Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30–39 over grade 3 aged 40–49 years? |
|
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|
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| Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank |
|
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|
| Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex |
|
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|
| <i>IFIH1</i>
variants are associated with generalised epilepsy preceded by febrile seizures |
|
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| Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of<i>ATP7A</i>as a novel cause of occipital horn syndrome |
|
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|
| Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome |
|
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|
| Large<i>TRAPPC11</i>gene deletions as a cause of muscular dystrophy and their estimated genesis |
|
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|
|
| Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients |
|
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|
| <i>NF2</i>-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study |
|
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|
| Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China |
|
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|
| Complex structural variation and nonsense variant<i>in trans</i>cause<i>VPS50</i>-related disorder |
|
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|
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|
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|
|
| Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation |
|
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|
|
| Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective |
|
|
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|
|
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|
|
| <i>ZFHX3</i>
variants cause childhood partial epilepsy and infantile spasms with favourable outcomes |
|
|
|
|
|
|
|
|
|
| Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases |
|
|
|
|
|
|
|
|
|
| Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the<i>NF1</i>gene |
|
|
|
|
|
|
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|
|
| Guidelines for NGS procedures applied to prenatal diagnosis by the Spanish Society of Gynecology and Obstetrics and the Spanish Association of Prenatal Diagnosis |
|
|
|
|
|
|
|
|
|
| Validation of the BOADICEA model in a prospective cohort of<i>BRCA1/2</i>pathogenic variant carriers |
|
|
|
|
|
|
|
|
|
| Exome sequencing of 1190 non-syndromic clubfoot cases reveals
<i>HOXD12</i>
as a novel disease gene |
|
|
|
|
|
✓ |
|
|
"European ancestry"; "non-European ancestry" |
| ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death |
|
|
|
|
|
|
|
|
|
| Carrier testing for partners of<i>MUTYH</i>variant carriers: UK Cancer Genetics Group recommendations |
|
|
|
|
|
|
|
|
|
| Variant classification changes over time in the clinical molecular diagnostic laboratory setting |
|
|
|
|
|
|
|
|
|
| Comprehensive preimplantation genetic testing for balanced insertional translocation carriers |
|
|
|
|
|
|
|
|
|
| Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis |
|
|
|
|
|
|
✓ |
✓ |
Han Chinese |
| <i>POT1</i>and multiple primary melanomas: the dermatological phenotype |
|
|
|
|
|
✓ |
|
|
European ancestry |
| Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression |
|
|
|
|
|
|
|
|
|
| Expanded targeted preconception screening panel in Israel: findings and insights |
|
|
|
|
|
|
✓ |
✓ |
"ethnically-based screening tests", "uniquely diverse Israeli population", references to "Israeli" p |
| Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:<i>APC</i>c.3920T>A p.(Ile1307Lys) as an exemplar |
|
|
|
|
|
|
|
|
|
| Homozygous variant in<i>TKFC</i>abolishing triokinase activities is associated with isolated immunodeficiency |
|
|
|
|
|
|
|
|
|
| Genetic evidence for splicing-dependent structural and functional plasticity in CASK protein |
|
|
|
|
|
|
|
|
|
| Novel mutation leading to splice donor loss in a conserved site of<i>DMD</i>gene causes Duchenne muscular dystrophy with cryptorchidism |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Systematic reanalysis of copy number losses of uncertain clinical significance |
|
|
|
|
|
|
|
|
|
| Pathogenic variant detection rate varies considerably in male breast cancer families and sporadic cases: minimal additional contribution beyond<i>BRCA2, BRCA1</i>and<i>CHEK2</i> |
|
|
|
|
|
|
|
|
|
| Response to commentary: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III |
|
|
|
|
|
|
|
|
|
| <i>BRCA</i>
awareness and testing experience in the UK Jewish population: a qualitative study |
|
|
|
|
|
|
✓ |
✓ |
UK Jewish; Jewish; Jewish people; Jewish community |
| Phenotypic characterisation of<i>SMAD4</i>variant carriers |
|
|
|
|
|
|
|
|
|
| Comment to: Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE stud |
|
|
|
|
|
|
|
|
|
| Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis |
|
|
|
|
|
|
|
|
|
| Extent of investigation and management of cases of ‘unexplained’ mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus |
|
|
|
|
|
|
|
|
|
| Subcellular localisation of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome |
|
|
|
|
|
|
|
|
|
| A comparative medical genomics approach may facilitate the interpretation of rare missense variation |
|
|
|
|
|
|
|
|
|
| Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement |
|
|
|
|
|
|
|
|
|
| Cerebral visual impairment: genetic diagnoses and phenotypic associations |
|
|
|
|
|
|
|
|
|
| Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome |
|
|
|
|
|
|
|
|
|
| Biallelic variants in Plexin B2 (
<i>PLXNB2</i>
) cause amelogenesis imperfecta, hearing loss and intellectual disability |
|
|
|
|
|
|
|
|
|
| Survey of service needs to embed genome sequencing for motor neuron disease in neurology in the English National Health Service |
|
|
|
|
|
|
|
|
|
| Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights |
|
|
|
|
|
✓ |
|
|
populations of European descent |
| Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort |
|
|
|
|
|
✓ |
|
|
non-European populations |
| <i>NASP</i>
gene contributes to autism by epigenetic dysregulation of neural and immune pathways |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Novel
<i>TUBA4A</i>
variant causes congenital myopathy with focal myofibrillar disorganisation |
|
|
|
|
|
|
|
|
|
| Skewed X-chromosome inactivation drives the proportion of<i>DNAAF6</i>-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia |
|
|
|
|
|
|
|
|
|
| Exploring the molecular pathways linking sleep phenotypes and<i>POGZ</i>-associated neurodevelopmental disorder |
|
|
|
|
|
|
|
|
|
| Bi-allelic variants in chromatoid body protein TDRD6 cause spermiogenesis defects and severe oligoasthenoteratozoospermia in humans |
|
|
|
|
|
|
✓ |
✓ |
Chinese |
| Improved sensitivity for detection of pathogenic variants in familial<i>NF2</i>-related schwannomatosis |
|
|
|
|
|
|
|
|
|
| <i>ZNF142</i>mutation causes sex-dependent neurologic disorder |
|
|
|
|
|
|
✓ |
✓ |
Bedouin kindred |
| Variant reclassification and clinical implications |
|
|
|
|
|
|
✓ |
✓ |
ancestry (as in 'ancestry studies') |
| Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort |
|
|
|
|
|
|
|
|
|
| Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants |
|
|
|
|
|
|
|
|
|
| Heterozygous deletion of<i>HOXC10-HOXC9</i>causes lower limb abnormalities in congenital vertical talus |
|
|
|
|
|
|
|
|
|
| BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome |
|
|
|
|
|
|
|
|
|
| Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals |
|
|
|
|
|
|
|
|
|
| Mosaic RASopathies concept: different skin lesions, same systemic manifestations? |
|
|
|
|
|
|
|
|
|
| Homozygous<i>SMAD6</i>variants in two unrelated patients with craniosynostosis and radioulnar synostosis |
|
|
|
|
|
|
|
|
|
| De novo heterozygous missense variants in<i>CELSR1</i>as cause of fetal pleural effusions and progressive fetal hydrops |
|
|
|
|
|
|
|
|
|
| Genotype and phenotype correlation of<i>PHACTR1</i>-related neurological disorders |
|
|
|
|
|
|
|
|
|
| Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum |
|
|
|
|
|
|
|
|
|
| <i>GRN</i>mutation spectrum and genotype–phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort |
|
|
|
|
|
|
|
|
|
| Iron and risk of dementia: Mendelian randomisation analysis in UK Biobank |
|
|
|
|
|
✓ |
|
|
European (N=451284); European groups; participants clustered into European |
| Charis Eng: an appreciation |
|
|
|
|
|
|
|
|
|
| <i>JMG</i>in 2025 |
|
|
|
|
|
|
|
|
|
| Advances in research on the mechanism of tsRNA action in tumours |
|
|
|
|
|
|
|
|
|
| Clonazepam repurposing in<i>ARID1B</i>patients through conventional RCT and N-of-1 trials: an experimental strategy for orphan disease development |
|
|
|
|
|
|
|
|
|
| Congenital urinary tract anomalies are a variable finding associated with nevoid basal cell carcinoma syndrome |
|
|
|
|
|
|
|
|
|
| Cystic fibrosis carrier screening in Australia: comparing sequencing and targeted panels across diverse ancestries |
|
|
|
|
|
✓ |
|
|
non-European ancestry groups; Northern Europe group; Southern Asia group |
| <i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies |
|
|
|
|
|
|
|
|
|
| A tandem duplication of exon 42 of the<i>DMD</i>gene is a likely benign variant |
|
|
|
|
|
|
|
|
|
| The NHS England Jewish BRCA Testing Programme: overview after first year of implementation (2023–2024) |
|
|
|
|
|
|
|
|
|