| Clinical characterization of novel <scp>HSPA9</scp> splice variant in a Chinese woman |
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| Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children |
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| Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving <i>SATB2</i> |
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| Clinical presentation and molecular characterization of a novel patient with variant <i><scp>POC1A</scp>‐</i>related syndrome |
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| A rare disease and education: Neurofibromatosis type 1 decreases educational attainment |
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| <scp><i>IQSEC2</i></scp> disorder: A new disease entity or a Rett spectrum continuum? |
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| <scp>Smith‐Magenis</scp> syndrome: Clinical and behavioral characteristics in a large retrospective cohort |
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47 European patients |
| Biallelic loss‐of‐function <scp><i>HACD1</i></scp> variants are a bona fide cause of congenital myopathy |
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| Compound heterozygosity for <scp>PTPN11</scp> variants in a subject with Noonan syndrome provides insights into the mechanism of <scp>SHP2</scp>‐related disorders |
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| Phenotypic spectrum of the <scp>RBM10</scp>‐mediated intellectual disability and congenital malformation syndrome beyond classic <scp>TARP</scp> syndrome features |
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| Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing |
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| Tooth agenesis: What do we know and is there a connection to cancer? |
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| Null variants in <scp><i>DYSF</i></scp> result in earlier symptom onset |
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| Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients |
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| A novel heterozygous variant in <scp><i>FGF9</i></scp> associated with previously unreported features of multiple synostosis syndrome 3 |
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| Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in <scp><i>MAFB</i></scp> |
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Italian family |
| Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large <scp>US</scp> health care system |
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| Challenging the traditional approach for interpreting genetic variants: Lessons from Fabry disease |
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| Rare and de novo duplications containing <scp><i>TCF20</i></scp> are associated with a neurodevelopmental disorder |
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| Utility of clinical exome sequencing in progressive myoclonus epilepsy syndromes: An exploratory analysis |
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| Embryonal sarcoma of the liver in a girl with Cockayne syndrome |
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| Issue Information |
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| Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum |
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| A homozygous <scp><i>ABHD16A</i></scp> variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face |
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| Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case‐series study |
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| Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in<scp><i>IMMT</i></scp>gene |
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| Early psychosis in <scp>Thauvin‐Robinet‐Faivre</scp> syndrome, a complication of the disease? |
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| <scp><i>DYRK1B</i></scp> haploinsufficiency in a family with metabolic syndrome and abnormal cognition |
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| Bi‐allelic variants in <scp><i>MDH2</i></scp>: Expanding the clinical phenotype |
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| Identifying biomarkers for prenatal diagnosis of neural tube defects based on “omics” |
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| <scp><i>TAB2</i></scp> variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay |
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| Expanding the spectrum of syndromic <i>PPP2R3C</i>‐related <scp>XY</scp> gonadal dysgenesis to <scp>XX</scp> gonadal dysgenesis |
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✓ |
✓ |
Turkish and Indian descent |
| Issue Information |
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| Expanding the genotypic spectrum of <scp><i>TXNL4A</i></scp> variants in <scp>Burn‐McKeown</scp> syndrome |
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| Biallelic <scp><i>ZNFX1</i></scp> variants are associated with a spectrum of immuno‐hematological abnormalities |
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| Kosaki overgrowth syndrome due to a novel de novo <scp><i>PDGFRB</i></scp> variant |
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| Mono‐allelic loss of <scp><i>YTHDF3</i></scp> and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions |
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| A <scp><i>SPIDR</i></scp> homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability |
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✓ |
✓ |
Indian |
| First case series of Polish patients with cerebrotendinous xanthomatosis and systematic review of cases from the 21st century |
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"Polish patients", "Polish and Asian populations", "Asian and non-Asian populations" |
| <i>In silico</i> genome‐wide gene‐based association analysis reveals new genes predisposing to coronary artery disease |
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| Clinical utility of liquid biopsy in breast cancer: A systematic review |
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| The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene |
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| Use of medical exome sequencing for identification of underlying genetic defects in <scp>NICU</scp>: Experience in a cohort of 2303 neonates in China |
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| Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes |
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"144 Brazilian individuals with ASD of strong European and African ancestries."; "144 Brazilian individuals with ASD of strong European and African ancestries." |
| Genetic and metabolic profiling of individuals with <scp>Phelan‐McDermid</scp> syndrome presenting with seizures |
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| Issue Information |
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| Biallelic <scp><i>TMEM260</i></scp> variants cause truncus arteriosus, with or without renal defects |
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| Prenatal exome sequencing: A useful tool for the fetal neurologist |
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| A homozygous loss‐of‐function mutation in <scp><i>FBXO43</i></scp> causes human non‐obstructive azoospermia |
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Chinese |
| Dominant‐negative pathogenic variant <scp>BRIP1</scp> c.<scp>1045G</scp>>C is a high‐risk allele for non‐mucinous epithelial ovarian cancer: A case‐control study |
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| Correlation of <scp>DUOX2</scp> residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic <scp><i>DUOX2</i></scp> defects |
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| Pathogenic variants in the survival of motor neurons complex gene <scp><i>GEMIN5</i></scp> cause cerebellar atrophy |
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| Bi‐allelic mutations in <scp><i>MCIDA</i>S</scp> and <scp><i>CCNO</i></scp> cause human infertility associated with abnormal gamete transport |
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| <scp><i>RNF43</i></scp> pathogenic Germline variant in a family with colorectal cancer |
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| <scp><i>HK1</i></scp> haemolytic anaemia in association with a neurological phenotype and co‐existing <scp><i>CEP290</i> Meckel–Gruber</scp> in a Romani family |
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✓ |
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Romani family |
| Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria |
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| Novel bi‐allelic <scp><i>HPDL</i></scp> variants cause hereditary spastic paraplegia in a Chinese patient |
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| The Thai reference exome (T‐REx) variant database |
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✓ |
✓ |
✓ |
non‐European ancestry; Thai population; East and Southeast Asian populations; Thai subpopulations; ethno‐geographic groups; |
| <i>GLI3</i> variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third |
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| The clinical efficacy and safety of <scp>anti‐IgE</scp> therapy in recessive dystrophic epidermolysis bullosa |
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| Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort |
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| Diagnostic yield of genetic testing in 324 infants with hypotonia |
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| Issue Information |
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| Novel <scp><i>KMT2B</i></scp> mutation causes cerebellar ataxia: Expanding the clinical phenotype |
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| Hypomorphic alleles pose challenges in rare disease genomic variant interpretation |
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| Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands |
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| Homozygous <scp><i>TRAPPC11</i></scp> truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18 |
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| A <scp>CELSR1</scp> variant in a patient with pulmonary arterial hypertension |
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| A novel <i>POF1B</i> variant in a Chinese patient is associated with premature ovarian failure |
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| Bi‐allelic loss of function variants in <scp>GOLGA2</scp> are associated with a complex neurological phenotype: Report of a second family |
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| Genetic counseling and testing for hereditary hemorrhagic telangiectasia |
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| Clinical and molecular delineation of <scp><i>PUS3</i></scp>‐associated neurodevelopmental disorders |
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| Molecular autopsy by proxy in preconception counseling |
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| Kaposiform hemangioendothelioma further broadens the phenotype of <scp>PIK3CA</scp>‐related overgrowth spectrum |
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| A novel <scp><i>POU1F1</i></scp> pathogenic variant: Two familial case reports with phenotype expansion |
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| Spectrum of neuro‐genetic disorders in the United Arab Emirates national population |
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| Delineating the expanding phenotype of <scp><i>HERC2</i></scp>‐related disorders: The impact of biallelic loss of function versus missense variation |
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| A new synonymous variant involving an <scp><i>mRNA</i></scp> splicing site in <scp><i>CYP21A2</i></scp> detected in 12 unrelated patients with deficiency of 21‐hydroxylase |
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| Psychosocial interventions and needs among individuals and families with <scp>Li‐Fraumeni</scp> syndrome: A scoping review |
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| Issue Information |
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| Clinical variability of neurofibromatosis 1: A modifying role of cooccurring <scp><i>PTPN11</i></scp> variants and atypical brain <scp>MRI</scp> findings |
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| Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms |
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✓ |
✓ |
African ancestry |
| Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities |
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✓ |
✓ |
Indian individuals; our population |
| Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients |
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| A C‐terminal <scp><i>BCOR</i></scp> nonsense variant in a male patient expands the phenotypic spectrum of <scp><i>BCOR</i></scp>‐associated syndromic microphthalmia |
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| Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement |
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| Facioscapulohumeral muscular dystrophy—Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease |
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| The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes |
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| Epileptic encephalopathy caused by <scp>ARV1</scp> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <scp>GPI</scp>‐anchored proteins |
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| Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein <scp>A2</scp> deficiency in a Saudi family |
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| A 24‐generation‐old founder mutation impairs splicing of <scp><i>RBBP8</i></scp> in Pakistani families affected with Jawad syndrome |
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| Exome sequencing of familial adenomatous polyposis‐like individuals identifies both known and novel causative genes |
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| A case of <scp><i>ASAH1</i></scp>‐related pure SMA evolving into adult‐onset Farber disease |
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| A standard of care for individuals with <scp><i>PIK3CA</i></scp>‐related disorders: An international expert consensus statement |
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| Issue Information |
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| Hypermobile <scp>Ehlers–Danlos</scp> syndrome: A review and a critical appraisal of published genetic research to date |
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| Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross‐sectional survey of health professionals |
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| <scp><i>ZMYND11</i></scp> variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder |
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| “I have to start learning how to live with becoming sick”: A scoping review of the lived experiences of people with Huntington's disease |
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| <scp>CHEDDA</scp> syndrome is an underrecognized neurodevelopmental disorder with a highly restricted <scp><i>ATN1</i></scp> mutation spectrum |
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| The first two <scp>non‐Finnish <i>HYLS1</i></scp> variants: Expanding the phenotypic spectrum of hydrolethalus syndrome |
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✓ |
✓ |
Finnish; non-Finnish |
| <scp>KRAS</scp> mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib |
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| Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step‐up |
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| Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features |
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| <scp>EPHA7</scp> haploinsufficiency is associated with a neurodevelopmental disorder |
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| De novo pathogenic <scp><i>DHX30</i></scp> variants in two cases |
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| Expanding the phenotype of <scp><i>SETD5</i></scp>‐related disorder and presenting a novel association with bone fragility |
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| Heterozygous <scp><i>HMGB1</i></scp> loss‐of‐function variants are associated with developmental delay and microcephaly |
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| Expanding the phenotypic spectrum of FINCA (fibrosis, neurodegeneration, and cerebral angiomatosis) syndrome beyond infancy |
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| Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis |
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✓ |
✓ |
✓ |
Europeans; Chinese populations |
| How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies |
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| Two cases of <scp><i>DCDC2</i></scp>‐related neonatal sclerosing cholangitis with developmental delay and literature review |
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| Issue Information |
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| Novel <scp><i>CDK10</i></scp> variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor |
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| <scp><i>PKD2</i></scp> gene variants in Chinese patients with autosomal dominant polycystic kidney disease |
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| Patients with acephalic spermatozoa syndrome linked to novel <i>TSGA10/PMFBP1</i> variants have favorable pregnancy outcomes from intracytoplasmic sperm injection |
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| Biallelic mutations in <scp><i>KATNAL2</i></scp> cause male infertility due to oligo‐astheno‐teratozoospermia |
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| Out‐of‐pocket and private pay in clinical genetic testing: A scoping review |
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| Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review |
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| Triploid pregnancy–Clinical implications |
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| Bi‐allelic loss of <scp><i>ERGIC1</i></scp> causes relatively mild arthrogryposis |
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| A retrospective analysis of growth hormone therapy in children with <scp>Schaaf–Yang</scp> syndrome |
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| Inflammatory factors, <scp>genetic variants</scp>, and predisposition for preterm birth |
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| Homozygous missense <scp><i>VPS16</i></scp> variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings |
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| Isolated‐ and <scp>Beckwith‐Wiedemann</scp> syndrome related‐ lateralised overgrowth (hemihypertrophy): Clinical and molecular correlations in 94 individuals |
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| Current and experimental therapeutics for Fabry disease |
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✓ |
✓ |
pan-ethnic |
| The importance of precision medicine in modern molecular oncology |
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| Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects |
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| Pathogenic variants of <i>ATG4D</i> in infertile men with non‐obstructive azoospermia identified using whole‐exome sequencing |
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| Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta‐analysis |
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| <scp><i>PPP3CA</i></scp> truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy |
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| <scp>COG1‐</scp>congenital disorders of glycosylation: Milder presentation and review |
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| A homozygous missense mutation in <scp><i>TBPL2</i></scp> is associated with oocyte maturation arrest and degeneration |
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| <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond |
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| Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole‐exome sequencing: A retrospective cohort study |
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| Issue Information |
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| Featured Cover |
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| Nonsense‐mediated mRNA decay efficiency influences bleeding severity in <i>ITGA2B</i> c.<scp>2659C</scp> > T (p.<scp>Q887X</scp>) knock‐in mice |
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| Protein kinase <scp>D1</scp> variant associated with human epilepsy and peripheral nerve hypermyelination |
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| Periodontal (formerly type <scp>VIII</scp>) <scp>Ehlers–Danlos</scp> syndrome: Description of 13 novel cases and expansion of the clinical phenotype |
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| Biallelic start loss variant, c.<scp>1A</scp> > G in <scp><i>GCSH</i></scp> is associated with variant nonketotic hyperglycinemia |
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Indian |
| Severe congenital cutis laxa: Identification of novel homozygous <scp><i>LOX</i></scp> gene variants in two families |
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| The genetic underpinnings of anthracycline‐induced cardiomyopathy predisposition |
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| Molecular genetics of inherited retinal degenerations in Icelandic patients |
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ancestral North-Western European nations |
| Clinical management among individuals with variant of uncertain significance in hereditary cancer: A systematic review and meta‐analysis |
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| Zebrafish modeling mimics developmental phenotype of patients with <scp><i>RAPGEF1</i></scp> mutation |
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| Rapid exome sequencing as the first‐tier investigation for diagnosis of acutely and severely ill children and adults in Thailand |
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| Issue Information |
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| Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results |
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| Novel <scp><i>ANO5</i></scp> intronic Roma variant alters splicing causing muscular dystrophy |
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Roma; Iberian Roma population |
| <i><scp>NKX2</scp>.1</i> run‐on mutation associated to familial brain–lung–thyroid syndrome |
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| Biallelic <scp><i>RFC1</i></scp> pentanucleotide repeat expansions in Greek patients with late‐onset ataxia |
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| <scp><i>DYNC2H1</i></scp> variants cause Leber congenital amaurosis without syndromic features |
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| Third case of <scp>Bardet‐Biedl</scp> syndrome caused by a biallelic variant predicted to affect splicing of <scp><i>IFT74</i></scp> |
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| Clinical and molecular delineation of spondylocostal dysostosis type 3 |
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| A novel bi‐allelic loss‐of‐function mutation in <scp><i>STIM1</i></scp> expands the phenotype of <scp>STIM1</scp>‐related diseases |
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| Expansion of the clinical and molecular spectrum of an <scp>XPD</scp>‐related disorder linked to biallelic mutations in <scp><i>ERCC2</i></scp> gene |
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| <scp><i>GCH1</i></scp> mutations in hereditary spastic paraplegia |
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| Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran |
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| Clinical insights and molecular study of three foetuses with <scp><i>DYNC2H1</i></scp> gene mutation causing short rib thoracic dystrophy |
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| Featured Cover |
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Chinese |
| Congenital ataxia due to novel variant in <scp><i>ATP8A2</i></scp> |
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| Issue Information |
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| Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing |
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| Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing |
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| Keratoconus in a patient with <scp><i>B3GALT6</i></scp>‐related disorder |
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| Heterozygous <scp><i>NOTCH1</i></scp> deletion associated with variable congenital heart defects |
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| Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta‐analysis |
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| <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center |
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| Influence of molecular classes and growth hormone treatment on growth and dysmorphology in <scp>Prader‐Willi</scp> syndrome: A multicenter study |
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| <scp>FARS1</scp>‐related disorders caused by bi‐allelic mutations in cytosolic phenylalanyl‐<scp>tRNA</scp> synthetase genes: Look beyond the lungs! |
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| Improving clinical interpretation of five <scp><i>KRIT1</i></scp> and <scp><i>PDCD10</i></scp> intronic variants |
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| Whole genome sequencing reveals biallelic <scp><i>PLA2G6</i></scp> mutations in siblings with cerebellar atrophy and cap myopathy |
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| <scp>Health‐related</scp> quality of life in adults with osteogenesis imperfecta |
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| Novel pathogenic variants in <scp><i>NLRP7</i></scp>, <scp><i>NLRP5</i>,</scp> and <scp><i>PADI6</i></scp> in patients with recurrent hydatidiform moles and reproductive failure |
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| A rare case of fatty <scp>acyl‐CoA</scp> reductase 1 deficiency in an Indian infant manifesting rhizomelic chondrodystrophy phenotype |
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| Immune deficiency, autoimmune disease and intellectual disability: A pleiotropic disorder caused by biallelic variants in the <scp><i>TPP2</i></scp> gene |
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Swiss founder mutation |
| <scp><i>SMPD3</i>‐<i>ALK</i></scp>: A novel <scp><i>ALK</i></scp> fusion gene in lung adenocarcinoma |
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| Issue Information |
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| Forty‐seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs |
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Arabs; Muslim Arabs; Bedouins; Bedouin origin; Saudi Peninsula; Israel; Saudi Arabia; populations |
| Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, <scp>lyso‐Gb3</scp> accumulation and <scp><i>GLA</i></scp> gene sequencing |
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| <scp><i>TBL1XR1</i></scp> associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum |
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| A new case of <scp>Smith‐Kingsmore</scp> syndrome with somatic <scp>MTOR</scp> pathogenic variant expands the phenotypic spectrum to lateralized overgrowth |
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| Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype |
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| <scp>Skraban‐Deardorff</scp> syndrome: Six new cases of <scp><i>WDR</i>26</scp>‐related disease and expansion of the clinical phenotype |
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| Biallelic loss of function variant in the unfolded protein response gene <i>PDIA6</i> is associated with asphyxiating thoracic dystrophy and <scp>neonatal‐onset</scp> diabetes |
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| Two intronic cis‐acting variants in both alleles of the <scp><i>POLR3A</i></scp> gene cause progressive spastic ataxia with hypodontia |
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| Further delineation of the <scp><i>NTHL1</i></scp> associated syndrome: A report from the French Oncogenetic Consortium |
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| Mutation in <scp><i>PHACTR1</i></scp> associated with multifocal epilepsy with infantile spasms and hypsarrhythmia |
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| The sodium/proton exchanger <scp>SLC9C1</scp> (<scp>sNHE</scp>) is essential for human sperm motility and fertility |
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| Bi‐allelic missense variant, p.<scp>Ser35Leu</scp> in <scp><i>EXOSC1</i></scp> is associated with pontocerebellar hypoplasia |
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| Fragile X premutation and associated health conditions: A review |
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| Expanded phenotypic spectrum of <scp><i>JAG1</i></scp>‐associated diseases: Central conducting lymphatic anomaly with a pathogenic variant in <scp><i>JAG1</i></scp> |
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| Novel mutations in <scp><i>ZP1</i></scp>: Expanding the mutational spectrum associated with empty follicle syndrome in infertile women |
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| Issue Information |
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| Adding evidence to the role of <scp><i>NEUROG1</i></scp> in congenital cranial dysinnervation disorders |
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| Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China |
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| Achalasia as a symptom guide in MIRAGE syndrome: A novel case with p.R1293Q and p.R902W variants in the <i>SAMD9</i> gene |
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| Clinical and neuroimaging findings in 33 patients with <scp>MCAP</scp> syndrome: A survey to evaluate relevant endpoints for future clinical trials |
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| A Brazilian case arising from a homozygous canonical splice site <scp><i>SLC35A3</i></scp> variant leading to an in‐frame deletion |
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| Congenital cervical spine malformation due to bi‐allelic <scp>RIPPLY2</scp> variants in spondylocostal dysostosis type 6 |
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| <scp>PLACK</scp> syndrome is potentially treatable with intralipids |
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| Biallelic deletion in a minimal <scp><i>CAPN15</i></scp> intron in siblings with a recognizable syndrome of congenital malformations and developmental delay |
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