| Rapid reversal of clinical down‐classification of a <i>BRCA1</i> splicing variant avoiding psychological harm |
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| The many faces of peroxisomal disorders: Lessons from a large Arab cohort |
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✓ |
Arab cohort |
| Comprehensive genotyping reveals novel <i>CFTR</i> variants in cystic fibrosis patients from the Russian Federation |
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| Issue Information ‐ Editorial Board |
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| Front Cover |
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| Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability |
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| Mutations in <i>RELT</i> cause autosomal recessive amelogenesis imperfecta |
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| Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA‐KUČINSKAS syndrome |
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| <i>XRCC2</i> mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans |
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| Bi‐allelic recessive loss‐of‐function mutations in <i>FIGLA</i> cause premature ovarian insufficiency with short stature |
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| A <i>HS6ST2</i> gene variant associated with X‐linked intellectual disability and severe myopia in two male twins |
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✓ |
✓ |
Italian |
| Targeted panel sequencing in adult patients with left ventricular non‐compaction reveals a large genetic heterogeneity |
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| Prevalence and associated phenotypes of <i>PLXNA1</i> variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism |
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| Genetic risk score modifies the effect of <i>APOE</i> on risk and age onset of Alzheimer's disease |
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✓ |
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European descent |
| A novel nonsense homozygous variant in the <i>NLGN1</i> gene found in a pair of monozygotic twin brothers with intellectual disability and autism |
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| A novel mutation in <i>MYORG</i> causes primary familial brain calcification with central neuropathic pain |
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| Genetics meets DNA methylation in rare diseases |
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| Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of <i>SULF1</i> without alterations in the <i>SLCOA1</i> gene |
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| <i>FLAD1</i>, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts |
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| Front Cover |
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| Issue Information ‐ Editorial Board |
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| Fragile X syndrome and connective tissue dysregulation |
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| Mosaic <i>MECP2</i> variants in males with classical Rett syndrome features, including stereotypical hand movements |
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| Preferences for in‐person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study |
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| Phenotero: Annotate as you write |
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| Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome |
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| <i>LOXL3</i> novel mutation causing a rare form of autosomal recessive Stickler syndrome |
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| Novel <i>KAT6B</i> proximal familial variant expands genotypic and phenotypic spectrum |
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| Effect of inbreeding on intellectual disability revisited by trio sequencing |
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✓ |
✓ |
"outbred Western populations"; "near‐ and middle‐east countries"; "Iran" |
| A null variant in <i>PUS3</i> confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease |
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| Variability in Phelan‐McDermid syndrome: The impact of the <i>PNPLA3</i> p.I148M polymorphism |
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| Biallelic mutations in <i>PMFBP1</i> cause acephalic spermatozoa |
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| <i>MPV17</i> mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy |
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| High prevalence of congenital deafness on Reunion Island is due to a founder variant of <i>LHFPL5</i> |
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| Correction to: Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins |
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| Issue Information ‐ Editorial Board |
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| A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor‐1 (<i>WT1</i>) pathogenic variant |
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| Novel <i>exostosin‐2</i> missense variants in a family with autosomal recessive exostosin‐2‐related syndrome: further evidences on the phenotype |
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| <i>QRICH1</i> mutations cause a chondrodysplasia with developmental delay |
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| <i>GRIN2D</i> variants in three cases of developmental and epileptic encephalopathy |
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| Complex effects of laminopathy mutations on nuclear structure and function |
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| Whole exome sequencing resolves complex phenotype and identifies <i>CC2D2A</i> mutations underlying non‐syndromic rod‐cone dystrophy |
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✓ |
✓ |
African woman |
| Extending the clinical phenotype associated with biallelic <i>NTHL1</i> germline mutations |
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| Neurodevelopmental phenotype caused by a de novo <i>PTPN4</i> single nucleotide variant disrupting protein localization in neuronal dendritic spines |
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| Genomic screening in rare disorders: New mutations and phenotypes, highlighting <i>ALG14</i> as a novel cause of severe intellectual disability |
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| Genomic duplication in the 19q13.42 imprinted region identified as a new genetic cause of intrauterine growth restriction |
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| Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration |
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| Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1 |
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| New <i>SMARCE1</i> variant in a patient with features overlapping with oculoauriculofrontonasal syndrome |
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| Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects |
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| Corrigendum |
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| Clinical aspects of hereditary spastic paraplegia 76 and novel <i>CAPN1</i> mutations |
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| Issue Information ‐ Editorial Board |
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| Families’ and health care professionals’ attitudes towards Li‐Fraumeni syndrome testing in children: A systematic review |
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| Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross‐sectional study |
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| Genotype and phenotype analysis using an epilepsy‐associated gene panel in Chinese pediatric epilepsy patients |
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| A multicenter study to evaluate pulmonary function in osteogenesis imperfecta |
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| <i>Apolipoprotein A5</i> gene variants are associated with decreased adiponectin levels and increased arterial stiffness in subjects with low high‐density lipoprotein‐cholesterol levels |
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✓ |
✓ |
Korean population |
| Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits |
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| Novel compound heterozygous <i>ABCC2</i> variants in patients with Dubin‐Johnson syndrome and intrahepatic cholestasis of pregnancy |
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| Genetic regulatory pathways of split‐hand/foot malformation |
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| Biparental/androgenetic mosaicism in a male with features of overgrowth and placental mesenchymal dysplasia |
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| Molecular genetics of hypospadias and cryptorchidism recent developments |
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| Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders |
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| Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies |
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| A founder nonsense variant in <i>NUDT2</i> causes a recessive neurodevelopmental disorder in Saudi Arab children |
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| Mechanistic insights into the cellular effects of a novel <i>FN1</i> variant associated with a spondylometaphyseal dysplasia |
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| A novel <i>CYCS</i> mutation in the α‐helix of the CYCS C‐terminal domain causes non‐syndromic thrombocytopenia |
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✓ |
✓ |
Japanese |
| Linking genetics to epigenetics: The role of folate and folate‐related pathways in neurodevelopmental disorders |
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| Whole exome sequencing identified a second pathogenic variant in HOMER2 for autosomal dominant non‐syndromic deafness |
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✓ |
✓ |
Chinese family |
| Novel <i>SBF1</i> splice‐site null mutation broadens the clinical spectrum of Charcot‐Marie‐Tooth type 4B3 disease |
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| Novel <i>SUZ12</i> mutations in Weaver‐like syndrome |
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| Novel <i>SBF2</i> mutations and clinical spectrum of Charcot‐Marie‐Tooth neuropathy type 4B2 |
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| Distal renal tubular acidosis caused by <i>tryptophan‐aspartate repeat domain 72</i> (<i>WDR72</i>) mutations |
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| Family dynamics in transthyretin‐related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning? |
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| A novel homozygous frame‐shift variant in the <i>LHCGR</i> gene is associated with primary ovarian insufficiency in a Pakistani family |
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| The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of <i>MED12</i>‐related disorders |
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| Report of second case and clinical and molecular characterization of Eiken syndrome |
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| Issue Information ‐ Editorial Board |
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| Epilepsy genetics: Current knowledge, applications, and future directions |
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| Aldehyde dehydrogenase 2 polymorphism affects the outcome of methanol poisoning in exposed humans |
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| Evidence for <i>HNRNPH1</i> being another gene for Bain type syndromic mental retardation |
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| <i>IL11RA‐</i>related Crouzon‐like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences |
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| <i>IFT80</i> mutations cause a novel complex ciliopathy phenotype with retinal degeneration |
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| The <i>GBA</i> p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies |
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✓ |
✓ |
French-Canadian |
| Bilateral cerebellar cysts and cerebral white matter lesions with cortical dysgenesis: Expanding the phenotype of <i>LAMB1</i> gene mutations |
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| Issue Information ‐ Editorial Board |
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| How do consent forms for diagnostic high‐throughput sequencing address unsolicited and secondary findings? A content analysis |
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| Genotype‐phenotype correlations of low‐frequency variants in the complement system in renal disease and age‐related macular degeneration |
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| GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia |
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✓ |
✓ |
consanguineous Arab families |
| A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys |
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✓ |
✓ |
New Mexican Hispanic heritage |
| Enrichment of rare copy number variation in children with developmental language disorder |
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✓ |
✓ |
Swedish |
| <i>PPP1R21</i> homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities |
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| Pallister‐Killian syndrome: Review of fetal phenotype |
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| Mutational analysis of <i>CCM1</i>, <i>CCM2</i> and <i>CCM3</i> in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan |
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| Confirmation of <i>SLC5A7</i>‐related distal hereditary motor neuropathy 7 in a family outside Wales |
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| <i>PRUNE1</i>‐related disorder: Expanding the clinical spectrum |
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✓ |
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✓ |
✓ |
Japanese; Turkish; Italian |
| <i>NR4A2</i> haploinsufficiency is associated with intellectual disability and autism spectrum disorder |
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| Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease |
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| Risk communication in genetic counseling: Exploring uptake and perception of recurrence numbers, and their impact on patient outcomes |
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| Genome‐wide compound heterozygosity analysis highlighted 4 novel susceptibility loci for congenital heart disease in Chinese population |
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✓ |
✓ |
Chinese population; Han Chinese population |
| Factors associated with <i>ATXN2</i> CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2 |
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| New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation |
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| Phenotypic variability in xeroderma pigmentosum group G: An uncommon case with severe prenatal‐onset Cockayne syndrome features |
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| Issue Information ‐ Editorial Board |
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| p.D313Y is more than just a polymorphism in Fabry disease |
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| Association between glutathione S‐transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta‐analysis |
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✓ |
✓ |
"Subgroup analysis by ethnicity" and "Asian COPD patients" |
| Discovery of 4 exonic and 1 intergenic novel susceptibility loci for leprosy |
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| EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients |
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| Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog |
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| Genetic analysis of adult leukoencephalopathy patients using a custom‐designed gene panel |
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| Pathogenetic implication of fusion genes in acute promyelocytic leukemia and their diagnostic utility |
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| Clinical, molecular genetics and therapeutic aspects of syndromic obesity |
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| Refining the phenotype associated with biallelic <i>DNAJC21</i> mutations |
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| Identification of 4 novel mutations of androgen receptor gene in 8 Chinese families with complete androgen insensitivity syndrome |
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✓ |
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Chinese |
| Further audiovestibular characterization of DFNB77, caused by deleterious variants in <i>LOXHD1</i>, and investigation into the involvement of Fuchs corneal dystrophy |
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| Clinical and molecular insights into Glanzmann's thrombasthenia in China |
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✓ |
✓ |
Han population; ethnic populations; consanguineous populations; GT-prone countries |
| A founder mutation <i>MLC1</i> c.736delA associated with megalencephalic leukoencephalopathy with subcortical cysts‐1 in north Indian kindred |
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✓ |
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north Indian |
| A known pathogenic variant in the essential mitochondrial translation gene <i>RMND1</i> causes a Perrault‐like syndrome with renal defects |
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| Developmental disorders with intellectual disability driven by chromatin dysregulation: Clinical overlaps and molecular mechanisms |
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| Erratum |
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| Correction to: Reassessing the clinical spectrum associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome in French <i>FH</i> mutation carriers |
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| Correction to: PUGS: A novel scale to assess perceptions of uncertainties in genome sequencing |
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| Issue Information ‐ Editorial Board |
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| Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of <i>PRF1</i>, <i>UNC13D</i>, <i>STX11</i>, <i>STXBP2</i>, <i>SH2D1A</i>, and <i>XIAP</i> |
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✓ |
✓ |
"Chinese patients", "Western cohorts", "Korean patients", "racial difference", "genetic background" |
| Polymorphisms of genes involved in inflammation and blood vessel development influence the risk of varicose veins |
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✓ |
✓ |
ethnic Russian individuals; British residents |
| Systematic reanalysis of genomic data improves quality of variant interpretation |
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| Expanding the clinical spectrum of biallelic <i>ZNF335</i> variants |
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| <i>TASP1</i> is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies |
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| Clinical implication of <i>FMR1</i> intermediate alleles in a Spanish population |
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✓ |
✓ |
Spanish population |
| Children and young people's understanding of inherited conditions and their attitudes towards genetic testing: A systematic review |
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| Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases |
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| Prevalence of <i>BRCA1/2</i> large genomic rearrangements in Chinese women with sporadic triple‐negative or familial breast cancer |
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| Single, short in‐del, and copy number variations detection in monogenic dyslipidemia using a next‐generation sequencing strategy |
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| Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in <i>FLNB</i> |
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| Splice‐site mutations in <i>VEGFC</i> cause loss of function and Nonne‐Milroy‐like primary lymphedema |
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| Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai‐Barrow syndrome |
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| Corrigendum |
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| Issue Information ‐ Editorial Board |
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| Corrigendum |
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| The D313Y genotype—Pathogenic mutation or polymorphism? |
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| Kidney enlargement and multiple liver cyst formation implicate mutations in <i>PKD1/2</i> in adult sporadic polycystic kidney disease |
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| <i>EFNB2</i>haploinsufficiency causes a syndromic neurodevelopmental disorder |
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| Unexpected diagnosis of a <i>SHH</i> nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly |
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| Rare compound heterozygous variants in <i>PNKP</i> identified by whole exome sequencing in a German patient with ataxia‐oculomotor apraxia 4 and pilocytic astrocytoma |
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| <i>ZNF687</i> mutations are frequently found in pagetic patients from South Italy: implication in the pathogenesis of Paget's disease of bone |
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✓ |
✓ |
Italian; South Italy; Avellino |
| 2p24.2 (rs7552) is a susceptibility locus for nonsyndromic cleft lip with or without cleft palate in the Brazilian population |
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✓ |
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Amerindian, European and African ancestry |
| Regulatory network analysis of <i>LINC00472</i>, a long noncoding RNA downregulated by DNA hypermethylation in colorectal cancer |
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| Issue Information ‐ Editorial Board |
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| <i>CKAP2L</i> mutation confirms the diagnosis of Filippi syndrome |
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| Molecular and clinical studies in 8 patients with Temple syndrome |
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| Expanding the histopathological spectrum of <i>CFL2</i>‐related myopathies |
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| Truncating variants of the <i>DLG4</i> gene are responsible for intellectual disability with marfanoid features |
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| <i>INTU</i>‐related oral‐facial‐digital syndrome type VI: A confirmatory report |
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| Genetic investigation of 93 families with microphthalmia or posterior microphthalmos |
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| A <i>B3GALT6</i> variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6‐pathy mutations |
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| Exome sequencing reveals three homozygous missense variants in <i>SNRPA</i> in two sisters with syndromic intellectual disability |
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| Cancer gene‐panel testing identifies two loss‐of‐function alleles in <i>PALB2</i> and <i>PTEN</i> |
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| Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal <i>TUBB</i> gene |
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| Characteristics of genetic diseases in consanguineous populations in the genomic era: Lessons from Arab communities in North Israel |
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| Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP‐glucose ceramide glucosyltransferase deficiency |
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| Rare, genetically conditioned forms of rickets: Differential diagnosis and advances in diagnostics and treatment |
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| Genetic and clinical findings in a Chinese cohort of patients with collagen VI‐related myopathies |
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✓ |
✓ |
Chinese |
| Phenotypic characterization of <i>KCTD3</i>‐related developmental epileptic encephalopathy |
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| Spectrum of APC and MUTYH germ‐line mutations in Russian patients with colorectal malignancies |
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✓ |
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European founder alleles p.Y179C and p.G396D |
| Novel <i>NALCN</i> biallelic truncating mutations in siblings with IHPRF1 syndrome |
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| Prenatal detection of uniparental disomy of chromosome 2 carrying a <i>CHRND</i> pathogenic variant that causes lethal multiple pterygium syndrome |
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| SAAMP 2.0: An algorithm to predict genotype‐phenotype correlation of lysosomal storage diseases |
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| Lack of clear and univocal genotype‐phenotype correlation in familial Mediterranean fever patients: A systematic review |
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| Worldwide distribution of common <i>IDUA</i> pathogenic variants |
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✓ |
✓ |
✓ |
European countries; Northern and Eastern Europe; East Asians; Western populations; North African countries; Morocco; America; Australia |
| De novo variants in <i>CDK13</i> associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review |
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| Expanding the clinical and genetic spectra of <i>NKX6‐2</i>‐related disorder |
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| Issue Information ‐ Editorial Board |
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| Three‐dimensional genome architecture in health and disease |
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| Disclosure of cardiac variants of uncertain significance results in an exome cohort |
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| Are all Xq26.2 duplications overlapping <i>GPC3</i> on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis? |
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| Tylosis associated with squamous cell carcinoma of the oesophagus (TOC): Report of an African family with a novel <i>RHBDF2</i> variant |
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✓ |
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African |
| Intellectual developmental disorder with cardiac arrhythmia syndrome in a child with compound heterozygous <i>GNB5</i> variants |
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| Autosomal‐dominant myopia associated to a novel <i>P4HA2</i> missense variant and defective collagen hydroxylation |
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✓ |
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| <i>WNT10B</i> mutations associated with isolated dental anomalies |
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| <i>NDUFAF3</i> variants that disrupt mitochondrial complex I assembly may associate with cavitating leukoencephalopathy |
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| Genetics of patella hypoplasia/agenesis |
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| Expanding the phenotype of <i>SLC25A42</i>‐associated mitochondrial encephalomyopathy |
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| UK families with children with rare chromosome disorders: Changing experiences of diagnosis and counselling (2003‐2013) |
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| Identification of a single MPV17 nonsense‐associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy |
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| Patient actions and reactions after receiving negative results from expanded carrier screening |
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| Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice |
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| Homozygous <i>TMEM127</i> mutations in 2 patients with bilateral pheochromocytomas |
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| The changing landscape of Lynch syndrome due to <i>PMS2</i> mutations |
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| Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact |
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| Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10‐year Prospective Cohort |
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| De novo variants in <i>KLF7</i> are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms |
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| How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe |
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| Application of next‐generation sequencing to improve cancer management: A review of the clinical effectiveness and cost‐effectiveness |
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| Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion |
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| Phenotype expansion and development in Kosaki overgrowth syndrome |
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| Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA‐related overgrowth spectrum |
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| Clinical sequencing: From raw data to diagnosis with lifetime value |
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| A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly |
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| The risk of breast cancer in <i>BRCA1</i> and <i>BRCA2</i> mutation carriers without a first‐degree relative with breast cancer |
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| Collective effects of common single nucleotide polymorphisms and genetic risk prediction in type 1 diabetes |
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| Genetic association of molecular traits: A help to identify causative variants in complex diseases |
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| Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel <i>SLC30A10</i> mutations and further phenotype delineation |
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✓ |
✓ |
various ethnic groups; Egyptian; same ethnic group |
| Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model |
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✓ |
✓ |
Middle Eastern populations; Turkish; American |
| Effect of <i>LSR</i> polymorphism on blood lipid levels and age‐specific epistatic interaction with the <i>APOE</i> common polymorphism |
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| Targeted next‐generation sequencing and parental genotyping in sporadic Chinese Han deaf patients |
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| Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies |
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| Pharmacogenetics: A strategy for personalized medicine for autoimmune diseases |
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| Homozygous <i>XYLT2</i> variants as a cause of spondyloocular syndrome |
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| Patient outcomes of genetic counseling: Assessing the impact of different approaches to family history collection |
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| Genetic prediction of type 2 diabetes using deep neural network |
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✓ |
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mostly of European ethnicity |
| A critical appraisal of pharmacogenetic inference |
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| <i>FOXE3</i> mutations: genotype‐phenotype correlations |
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| Diagnosis and genetics of alacrima |
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| A novel nonsense variant in <i>REEP6</i> is involved in a sporadic rod‐cone dystrophy case |
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| Biallelic mutations in mitochondrial tryptophanyl‐tRNA synthetase cause Levodopa‐responsive infantile‐onset Parkinsonism |
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| Review of patient decision‐making factors and attitudes regarding preimplantation genetic diagnosis |
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| Richieri‐Costa‐Pereira syndrome: Expanding its phenotypic and genotypic spectrum |
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✓ |
✓ |
African ancestry |
| Variants in <i>CIB2</i> cause DFNB48 and not USH1J |
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✓ |
✓ |
multiethnic cohort |
| Epidemiology of Huntington disease in Cyprus: A 20‐year retrospective study |
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✓ |
|
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western European descent; western European populations; western European origin |
| Conversations with French medical geneticists. A personal perspective on the origins and early years of medical genetics in France |
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| Homozygous mutation in <i>ELMO2</i> may cause Ramon syndrome |
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| Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics |
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| Array‐comparative genomic hybridization analysis in patients with Müllerian fusion anomalies |
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| Genetic profile and mutation spectrum of Leber congenital amaurosis in a larger Indian cohort using high throughput targeted re‐sequencing |
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✓ |
✓ |
Indian cohort |
| Cell‐free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: A systematic review of economic evaluations |
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| Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature |
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| Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population |
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✓ |
✓ |
Japanese population; racially, ethnically, and socially homogeneous population |
| First direct evidence of involvement of a homozygous loss‐of‐function variant in the <i>EPS15L1</i> gene underlying split‐hand/split‐foot malformation |
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✓ |
✓ |
consanguineous family of Pakistani origin |
| Prader‐Willi syndrome genetic subtypes and clinical neuropsychiatric diagnoses in residential care adults |
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| Axenfeld‐Rieger syndrome |
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| Malectin gene polymorphisms promote cerebral palsy via M2‐like macrophage polarization |
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✓ |
✓ |
Chinese Han population |
| Digenic inheritance and genetic modifiers |
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| Hypoglycaemia represents a clinically significant manifestation of <i>PIK3CA</i>‐ and <i>CCND2</i>‐associated segmental overgrowth |
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| <i>INPP5K</i> variant causes autosomal recessive congenital cataract in a Pakistani family |
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| Detection of copy number variations in epilepsy using exome data |
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| Common variants in <i>DLG1</i> locus are associated with non‐syndromic cleft lip with or without cleft palate |
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| Genetic and epigenetic insights into uveal melanoma |
|
✓ |
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| Expanding the clinical and molecular spectrum of <i>PRMT7</i> mutations: 3 additional patients and review |
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| <i>TSGA10</i> is a novel candidate gene associated with acephalic spermatozoa |
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| Management of Leigh syndrome: Current status and new insights |
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| Novel spondyloepimetaphyseal dysplasia due to <i>UFSP2</i> gene mutation |
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South African family of Dutch origin |
| <i>mTOR</i> mutations in Smith‐Kingsmore syndrome: Four additional patients and a review |
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| Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance |
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| Diagnostic exome sequencing in early‐onset Parkinson's disease confirms <i>VPS13C</i> as a rare cause of autosomal‐recessive Parkinson's disease |
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| Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? |
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| Biallelic mutations in <i><scp>DYNC2LI1</scp></i> are a rare cause of Ellis‐van Creveld syndrome |
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| Gene‐panel testing of breast and ovarian cancer patients identifies a recurrent <i><scp>RAD51C</scp></i> duplication |
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|
✓ |
✓ |
Finnish population; population controls |