| Issue Information ‐ Editorial Board |
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| Microcephaly, intractable seizures and developmental delay caused by biallelic variants in <i><scp>TBCD</scp></i>: further delineation of a new chaperone‐mediated tubulinopathy |
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| Maternal genetic polymorphisms and unexplained recurrent miscarriage: a systematic review and meta‐analysis |
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| A new mutation in <i>TUBB1</i> associated with thrombocytopenia confirms that C‐terminal part of β1‐tubulin plays a role in microtubule assembly |
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| Clinical application of <scp>SNP</scp> array analysis in first‐trimester pregnancy loss: a prospective study |
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| A novel <i>RAD21</i> variant associated with intrafamilial phenotypic variation in Cornelia de Lange syndrome – review of the literature |
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| Emerging roles of <i>RAC1</i> in treating lung cancer patients |
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| Molecular characterization of <i><scp>PI</scp>*Q0<sub>la palma</sub></i>, a new alpha‐1‐antitrypsin null allele that combines two defective genetic variants |
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| Issue Information ‐ Editorial Board |
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| Genetics of primary ovarian insufficiency |
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| Extension of the clinical and molecular phenotype of <i><scp>DIAPH1</scp></i>‐associated autosomal dominant hearing loss (<i><scp>DFNA1</scp></i>) |
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| Single gene defects leading to sperm quantitative anomalies |
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| Issue Information ‐ Editorial Board |
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| Mutation in <scp>JPH2</scp> cause dilated cardiomyopathy |
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| Genetic abnormalities leading to qualitative defects of sperm morphology or function |
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| Recent insights on the genetics and epigenetics of endometriosis |
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| Biallelic truncating <i><scp>SCN9A</scp></i> mutation identified in four families with congenital insensitivity to pain from Pakistan |
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| <i><scp>BRF1</scp></i> mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies |
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| Genetics of mitochondrial dysfunction and infertility |
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| <i><scp>BRCA1</scp></i> and <i><scp>BRCA2</scp></i> mutation testing in Cyprus; a population based study |
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✓ |
✓ |
Cypriot population; Mediterranean countries; other ethnic populations |
| Factors related to genetic testing in adults at risk for Huntington disease: the prospective Huntington at‐risk observational study (<scp>PHAROS</scp>) |
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| A novel gain‐of‐function mutation in <i>ORAI1</i> causes late‐onset tubular aggregate myopathy and congenital miosis |
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✓ |
✓ |
Italian family |
| A genetic risk score is significantly associated with statin therapy response in the elderly population |
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| A lethal neonatal phenotype of mitochondrial short‐chain enoyl‐<scp>CoA</scp> hydratase‐1 deficiency |
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| The biology of germ cell tumors in disorders of sex development |
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| The human knockout phenotype of <i><scp>PADI6</scp></i> is female sterility caused by cleavage failure of their fertilized eggs |
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| Heart‐hand syndrome <scp>IV</scp>: a second family with <i><scp>LMNA</scp></i>‐related cardiomyopathy and brachydactyly |
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| Cardiovascular pharmacogenetics: a promise for genomically‐guided therapy and personalized medicine |
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| Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly |
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| Effects of <scp>S906T</scp> polymorphism on the severity of a novel borderline mutation <scp>I692M</scp> in Na<i><sub>v</sub></i>1.4 cause periodic paralysis |
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central Europe; Germany |
| Genetics of Mayer–Rokitansky–Küster–Hauser (<scp>MRKH</scp>) syndrome |
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| Severe infantile male encephalopathy is a result of early post‐zygotic <i><scp>WDR45</scp></i> somatic mutation |
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| Hematopoietically expressed homeobox (<i>HHEX</i>) gene polymorphism (rs5015480) is associated with increased risk of gestational diabetes mellitus |
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| A large cohort study confirming that specific haplotype <scp>4A161PAS</scp> is exclusively associated with the Chinese <scp>FSHD1</scp> |
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✓ |
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Chinese |
| <scp>RE</scp>: frameshift variant <i><scp>FANCL</scp></i>*c.1096_1099dupATTA is not associated with high breast cancer risk |
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| Issue Information ‐ Editorial Board |
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| Association of genetic polymorphisms of <i>de novo</i> nucleotide biosynthesis with increased <scp>CHD</scp> susceptibility in the northern Chinese population |
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| Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations |
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| Choroidal abnormalities in café‐au‐lait syndromes: a new differential diagnostic tool? |
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| An homozygous mutation in <i>KCNK3</i> is associated with an aggressive form of hereditary pulmonary arterial hypertension |
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✓ |
✓ |
Spanish patients; Romani family |
| Epispadias and the associated embryopathies: genetic and developmental basis |
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| Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review |
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| A <i>de novo</i> mutation in the <i>NALCN</i> gene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis |
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| Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome |
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| The impact of an expanded genetic testing program and selective oophorectomy on the incidence of ovarian cancer in West Pomerania |
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| Genetics of syndromic and non‐syndromic hereditary nail disorders |
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| Baraitser–Winter cerebrofrontofacial syndrome |
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| Further evidence that <i>de novo</i> missense and truncating variants in <i><scp>ZBTB18</scp></i> cause intellectual disability with variable features |
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| The genetic make‐up of ovarian development and function: the focus on the transcription factor <scp>FOXL2</scp> |
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| Loss of the proprioception and touch sensation channel <scp>PIEZO2</scp> in siblings with a progressive form of contractures |
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| Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients |
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| Genetic causes of moderate to severe hearing loss point to modifiers |
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| Homozygous <i><scp>DNAH1</scp></i> frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese |
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✓ |
✓ |
Chinese; East Asian group |
| Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with <i><scp>TIMM50</scp></i> mutations |
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✓ |
✓ |
ethnic specific exome cohort |
| <i>De novo</i> loss of function mutations in <i><scp>KIAA2022</scp></i> are associated with epilepsy and neurodevelopmental delay in females |
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| Issue Information - Editorial Board |
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| Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and <i>de novo</i> duplication 3q26.32‐q27.2 |
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| The clinical spectrum of female epilepsy patients with <i><scp>PCDH19</scp></i> mutations in a Chinese population |
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✓ |
✓ |
Chinese population |
| Integration of 60,000 exomes and <scp>ACMG</scp> guidelines question the role of Catecholaminergic Polymorphic Ventricular Tachycardia‐associated variants |
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| Identification of a second <i><scp>HOXA2</scp></i> nonsense mutation in a family with autosomal dominant non‐syndromic microtia and distinctive ear morphology |
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| Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome |
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| Frameshift variant <i><scp>FANCL</scp></i>*c.1096_1099dupATTA is not associated with high breast cancer risk |
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| Clinical application of whole‐genome low‐coverage next‐generation sequencing to detect and characterize balanced chromosomal translocations |
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| Simple and rapid characterization of novel large germline deletions in <i><scp>SDHB</scp></i>, <i><scp>SDHC</scp></i> and <i><scp>SDHD</scp></i>‐related paraganglioma |
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| Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome |
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| <scp>DJ</scp>‐1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of <scp>PARK7</scp> |
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| Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic |
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✓ |
✓ |
Czech; Czech Republic |
| Phenotypic variability and diffuse arterial lesions in a family with Loeys–Dietz syndrome type 4 |
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| Molecular genetic analysis of 30 families with Joubert syndrome |
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| Congenital heart diseases and their association with the variant distribution features on susceptibility genes |
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| <scp>CLOVES</scp> syndrome: review of a <scp>PIK3CA</scp>‐related overgrowth spectrum (<scp>PROS</scp>) |
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| Issue Information ‐ Editorial Board |
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| Genetic risk factors for venous thrombosis in women using combined oral contraceptives: update of the <scp>PILGRIM</scp> study |
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| <i><scp>KIF5A</scp> de novo</i> mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy |
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| Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants |
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✓ |
✓ |
Ashkenazi Jewish (AJ) population |
| Choices of incidental findings of individuals undergoing genome wide sequencing, a single center's experience |
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| A practical approach to ichthyoses with systemic manifestations |
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| Haplotype analysis reveals that the recurrent <i><scp>BRCA1</scp></i> deletion of exons 23 and 24 is a Greek founder mutation |
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✓ |
✓ |
Greek origin; Greek population; Greek descent; Asia Minor |
| Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders |
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✓ |
✓ |
Korean; "Korean patients"; "Korean cohort" |
| Recent Advances in Imprinting Disorders |
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| Impact of rare variants in <i><scp>ARHGAP29</scp></i> to the etiology of oral clefts: role of loss‐of‐function <i>vs</i> missense variants |
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| Exome sequencing revealed a novel splice site variant in the <i><scp>ALX1</scp></i> gene underlying frontonasal dysplasia |
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✓ |
✓ |
Pakistani; different ethnic groups |
| <scp>EMR</scp>documentation of physician–patient communication following genomic counseling for actionable complex disease and pharmacogenomic results |
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| Identification of <i>C12orf4</i> as a gene for autosomal recessive intellectual disability |
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✓ |
✓ |
Finnish; Dutch; North Eastern sub-isolate of Finland; Arab |
| <i><scp>DNM1L</scp></i>‐related encephalopathy in infancy with Leigh syndrome‐like phenotype and suppression‐burst |
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| Utility of clinical high‐depth next generation sequencing for somatic variant detection in the <i><scp>PIK3CA</scp></i>‐related overgrowth spectrum |
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| Evidence for the founder effect of a novel <i>ACVRL1</i> splice‐site mutation in Hungarian hereditary hemorrhagic telangiectasia families |
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| Association of a type 2 diabetes genetic risk score with insulin secretion modulated by insulin sensitivity among Chinese Hans |
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✓ |
✓ |
Chinese Han |
| Issue Information ‐ Editorial Board |
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| Expanding non‐invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y |
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| Cleidocranial dysplasia and RUNX2‐clinical phenotype–genotype correlation |
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| Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies |
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| The homozygous R504C mutation in <i>MTO1</i> gene is responsible for ONCE syndrome |
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| Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families |
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| Expanding the clinical picture of the <i>MECP2</i> Duplication syndrome |
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| Characterization of <i>SPATA5</i>‐related encephalopathy in early childhood |
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| Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L |
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| Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population |
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| Hypomyelinating leukodystrophies — a molecular insight into the white matter pathology |
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| Next‐generation sequencing of Chinese stage IV lung cancer patients reveals an association between <i>EGFR</i> mutation status and survival outcome |
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| Spinocerebellar ataxia: relationship between phenotype and genotype – a review |
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| <scp>ALTE</scp> and smoking exposure: which role of detoxification genes polymorphisms? |
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| Genetic, epidemiologic and clinicopathologic studies of Japanese Asian patients with Birt–Hogg–Dubé syndrome |
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✓ |
✓ |
Japanese Asian; Japanese; Taiwanese |
| Prenatal diagnosis of congenital myopathies and muscular dystrophies |
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| The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis |
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| Issue Information ‐ Editorial Board |
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| <i><scp>NSD1</scp></i> duplication in Silver–Russell syndrome (<scp>SRS</scp>): molecular karyotyping in patients with <scp>SRS</scp> features |
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| <scp>mRNA</scp>‐based detection of rare <scp>CFTR</scp> mutations improves genetic diagnosis of cystic fibrosis in populations with high genetic heterogeneity |
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| The promoter polymorphisms of receptor for advanced glycation end products were associated with the susceptibility and progression of sepsis |
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✓ |
✓ |
Chinese Han population |
| Advanced diagnostic genetic testing in inherited retinal disease: experience from a single tertiary referral centre in the <scp>UK</scp> National Health Service |
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| Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type <scp>II</scp> |
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✓ |
✓ |
Indian population |
| Whole gene duplication of <i>SCN2A</i> and <i>SCN3A</i> is associated with neonatal seizures and a normal intellectual development |
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| Corrigendum |
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| Issue Information ‐ Editorial Board |
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| Autosomal recessive truncating <i><scp>MAB21L1</scp></i> mutation associated with a syndromic scrotal agenesis |
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| Social anxiety and autism spectrum traits among adult <i><scp>FMR1</scp></i> premutation carriers |
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| Spondyloepimetaphyseal dysplasia with neurodegeneration associated with <i><scp>AIFM1</scp></i> mutation – a novel phenotype of the mitochondrial disease |
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| Autosomal recessive mutations in <i><scp>THOC6</scp></i> cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping |
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| A novel mutation in <i><scp>NDUFB11</scp></i> unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia |
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| Resistance to hypertension and high Cl<sup>−</sup> excretion in humans with <i><scp>SLC26A4</scp></i> mutations |
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| Down syndrome in adults: a 27‐year follow‐up of adaptive skills |
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| National G6PD neonatal screening program in Gaza Strip of Palestine: rationale, challenges and recommendations |
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| Rett‐like phenotypes: expanding the genetic heterogeneity to the <i><scp>KCNA2</scp></i> gene and first familial case of <i><scp>CDKL5</scp></i>‐related disease |
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| Mutations in the <scp>IRBIT</scp> domain of <i><scp>ITPR1</scp></i> are a frequent cause of autosomal dominant nonprogressive congenital ataxia |
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| Autosomal recessive <scp>IFT57</scp> hypomorphic mutation cause ciliary transport defect in unclassified oral–facial–digital syndrome with short stature and brachymesophalangia |
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| A role for<i>TENM1</i>mutations in congenital general anosmia |
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| Refining the phenotypical and mutational spectrum of Taybi‐Linder syndrome |
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| Homozygous <i><scp>PKP2</scp></i> deletion associated with neonatal left ventricle noncompaction |
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| Phenotype‐driven molecular autopsy for sudden cardiac death |
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| <i><scp>RELN</scp></i> and <i><scp>VLDLR</scp></i> mutations underlie two distinguishable clinico‐radiological phenotypes |
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| Is there a link between Holt-Oram Syndrome and ‘Mardini-Nyhan’ association? - need for further research |
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| Specific mosaic <i><scp>KRAS</scp></i> mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis |
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| Expanding the genotypic spectrum of Perrault syndrome |
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| Novel pathogenic <i><scp>SLC25A46</scp></i> splice‐site mutation causes an optic atrophy spectrum disorder |
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✓ |
✓ |
Moroccan |
| Issue Information ‐ Editorial Board |
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| A<i>de novo</i>frameshift in<i>HNRNPK</i>causing a Kabuki-like syndrome with nodular heterotopia |
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| Prenatal diagnosis of trisomy 21, 18 and 13 by quantitative pyrosequencing of segmental duplications |
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| Expanding the phenotype of <i><scp>RTTN</scp></i> variations: a new family with primary microcephaly, severe growth failure, brain malformations and dermatitis |
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| The <i><scp>MECP2</scp></i> variant c.<scp>925C</scp>>T (p.<scp>Arg309Trp</scp>) causes intellectual disability in both males and females without classic features of Rett syndrome |
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| Analysis copy number variation of Chinese children in early‐onset epileptic encephalopathies with unknown cause |
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✓ |
✓ |
Chinese |
| Expanding the phenotype of <scp>CRB2</scp> mutations – A new ciliopathy syndrome? |
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✓ |
✓ |
Ashkenazi Jewish |
| The role of <scp>COMT</scp> and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome |
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| Different X-linked<i>KDM5C</i>mutations in affected male siblings: is maternal reversion error involved? |
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| Diverse prognostic value of the <scp>GTn</scp> promoter polymorphism in squamous cell and adeno carcinoma of the oesophagus |
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| <scp>L1</scp> syndrome diagnosis complemented with functional analysis of <scp>L1CAM</scp> variants located to the two N‐terminal Ig‐like domains |
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| A common variant association study reveals novel susceptibility loci for low <scp>HDL</scp>‐cholesterol levels in ethnic Arabs |
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✓ |
✓ |
ethnic Arabs; Asian population |
| A homozygous nonsense variant in <i><scp>IFT52</scp></i> is associated with a human skeletal ciliopathy |
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| Issue Information ‐ Editorial Board |
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| Decision‐making for non‐invasive prenatal testing for Down syndrome: Hong Kong Chinese women's preferences for individual <i>vs</i> relational autonomy |
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| Identification of a founder <i><scp>BRCA1</scp></i> mutation in the Moroccan population |
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✓ |
✓ |
Moroccan population |
| Salt depletion syndrome as the initial presentation of cystic fibrosis in a toddler with the rare p.Ala309Gly (A309G) CFTR variant |
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| Fetal growth patterns in Beckwith–Wiedemann syndrome |
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| Unclassifiable arrhythmic cardiomyopathy associated with Emery–Dreifuss caused by a mutation in <scp>FHL1</scp> |
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| Structure–function studies of <i><scp>HNF1A</scp></i> (<scp>MODY3</scp>) gene mutations in South Indian patients with monogenic diabetes |
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| Variant haploinsufficiency and phenotypic non‐penetrance in <i><scp>PRPF31</scp></i>‐associated retinitis pigmentosa |
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| When silence is noise: infantile‐onset Barth syndrome caused by a synonymous substitution affecting <i><scp>TAZ</scp></i> gene transcription |
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| <i><scp>NOBOX</scp></i> is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency |
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✓ |
✓ |
Tunisian; ethnically matched women |
| Simpson–Golabi–Behmel syndrome: a prenatal diagnosis in a foetus with <i><scp>GPC3</scp></i> and <i><scp>GPC4</scp></i> gene microduplications |
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| Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring |
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| Developmental dysplasia of the hip: usefulness of next generation genomic tools for characterizing the underlying genes – a mini review |
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| <scp>FGFR2</scp> splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants |
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| A novel <i><scp>HYLS1</scp></i> homozygous mutation in living siblings with Joubert syndrome |
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| Clinical, biochemical and molecular characterization of prosaposin deficiency |
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| Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias |
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| Mutational characteristics of <i><scp>ANK1</scp></i> and <i><scp>SPTB</scp></i> genes in hereditary spherocytosis |
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| Next‐generation sequencing confirms the implication of <i><scp>SLC24A1</scp></i> in autosomal‐recessive congenital stationary night blindness |
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| <scp>HSMNR</scp> belongs to the most frequent types of hereditary neuropathy in the Czech Republic and is twice more frequent than <scp>HMSNL</scp> |
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✓ |
✓ |
Roma origin |
| Hereditary truncating mutations of <scp>DNA</scp> repair and other genes in <i><scp>BRCA1</scp></i>/<i><scp>BRCA2</scp></i>/<i><scp>PALB2</scp></i>‐negatively tested breast cancer patients |
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| Cerebellar ataxia and severe muscle <scp>CoQ<sub>10</sub></scp> deficiency in a patient with a novel mutation in <i><scp>ADCK3</scp></i> |
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| High frequency of<i>OTOF</i>mutations in Chinese infants with congenital auditory neuropathy spectrum disorder |
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| Issue Information ‐ Editorial Board |
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| <scp>WES</scp> in a family trio suggests involvement of <scp>TECPR2</scp> in a complex form of progressive motor neuron disease |
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| Hermansky–Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula |
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| Disrupted nitric oxide signaling due to <i><scp>GUCY1A3</scp></i> mutations increases risk for moyamoya disease, achalasia and hypertension |
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| Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications |
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✓ |
✓ |
Greek origin |
| Relevance of truncating titin mutations in dilated cardiomyopathy |
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| A non‐sense <i><scp>MCM9</scp></i> mutation in a familial case of primary ovarian insufficiency |
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| Genetics of human Bardet–Biedl syndrome, an updates |
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| Wide allelic heterogeneity with predominance of large <i><scp>IDS</scp></i> gene complex rearrangements in a sample of Mexican patients with Hunter syndrome |
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✓ |
✓ |
Mexican |
| Mutational spectrum of Korean patients with corneal dystrophy |
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✓ |
✓ |
Korean patients |
| Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing |
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| Association of <i><scp>COL4A1</scp></i> gene polymorphisms with cerebral palsy in a Chinese Han population |
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| The c.65‐2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA |
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| First‐trimester spontaneous pregnancy loss – molecular analysis using multiplex ligation‐dependent probe amplification |
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| <scp>DMRTA2</scp> (<scp><i>DMRT5</i></scp>) is mutated in a novel cortical brain malformation |
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| Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing |
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| Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test |
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| Lentiginous phenotypes caused by diverse pathogenic genes (<i><scp>SASH1</scp></i> and <i><scp>PTPN11</scp></i>): clinical and molecular discrimination |
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| <i>De novo</i> loss‐of‐function mutations in X‐linked <i><scp>SMC1A</scp></i> cause severe <scp>ID</scp> and therapy‐resistant epilepsy in females: expanding the phenotypic spectrum |
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| Aneuploidy: the impact of chromosome imbalance on nuclear organization and overall genome expression |
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| Acromelic frontonasal dysostosis and<i>ZSWIM6</i>mutation: phenotypic spectrum and mosaicism |
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| A series of 38 novel germline and somatic mutations of <i><scp>NIPBL</scp></i> in Cornelia de Lange syndrome |
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| Spinocerebellar ataxia type 3/Machado–Joseph disease: segregation patterns and factors influencing instability of expanded <scp>CAG</scp> transmissions |
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| Refining the continuum of<scp>CFTR</scp>‐associated disorders in the era of newborn screening |
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| Expanding the clinical spectrum of the ‘<i><scp>HDAC8</scp></i>‐phenotype’ – implications for molecular diagnostics, counseling and risk prediction |
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| Association analysis between <scp><i>HFM1</i></scp> variation and primary ovarian insufficiency in Chinese women |
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✓ |
✓ |
Chinese women; Chinese population; ethnic background |
| Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis |
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| Application of whole‐exome sequencing for detecting copy number variants in CMT1A/HNPP |
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| Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities |
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| Expanding the <i>MYBPC1</i> phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita |
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✓ |
✓ |
Israeli‐Druze |
| Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies |
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| Origin of mutation in sporadic cases of severe haemophilia A in Sweden |
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| Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline |
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| The genetics and pathogenesis of thoracic aortic aneurysm disorder and dissections |
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| Genetic and clinical analysis of spinocerebellar ataxia type 36 in Mainland China |
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| Assessment of <scp>PAX6</scp> alleles in 66 families with aniridia |
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| Early growth and development impairments in patients with ganglioside <scp>GM3</scp> synthase deficiency |
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| Pathogenic <i>FBN1</i> variants in familial thoracic aortic aneurysms and dissections |
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| Systematic review of chronic pain in persons with Marfan syndrome |
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| Exome sequencing revealed a novel biallelic deletion in the<i>DCAF17</i>gene underlying Woodhouse Sakati syndrome |
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| Mutations in <i><scp>WNT9B</scp></i> are associated with Mayer–Rokitansky–Küster–Hauser syndrome |
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| <i>SATB2</i>‐associated syndrome presenting with Rett‐like phenotypes |
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| Value of <scp>MRI</scp> olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet–Biedl syndrome |
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| Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey |
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| Muscle hypertrophy as the presenting sign in a patient with a complete <i><scp>FHL1</scp></i> deletion |
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