| Cover Image, Volume 40, Issue 1 |
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| Autosomal recessive primary microcephaly due to <i>ASPM</i>
mutations: An update |
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| Issue Information |
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| A recurrent mutation in
<i>KCNQ4</i>
in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators |
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| Biallelic loss of function variants in
<i>PPP1R21</i>
cause a neurodevelopmental syndrome with impaired endocytic function |
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| A de novo pathogenic
<i>CSNK1E</i>
mutation identified by exome sequencing in family trios with epileptic encephalopathy |
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| Lamin A mutation impairs interaction with nucleoporin NUP155 and disrupts nucleocytoplasmic transport in atrial fibrillation |
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| The effect of premature termination codon mutations on
<i>CFTR</i>
mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cyst |
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| The homozygous variant c.797G>A/p.(Cys266Tyr) in<i>PISD</i>is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function |
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| Mutational and phenotypic spectra of
<i>KCNE1</i>
deficiency in Jervell and Lange‐Nielsen Syndrome and Romano‐Ward Syndrome |
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| <i>EPCAM</i>mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome |
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| Back Cover, Volume 39, Issue 12 |
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| Issue Information |
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| Cover Image, Volume 39, Issue 12 |
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| Evidence of predisposing epimutation in retinoblastoma |
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| A novel autosomal recessive<i>GJB2</i>-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma |
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| Small supernumerary marker chromosomes: A legacy of trisomy rescue? |
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| Disease-causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs |
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| Construction of cloning-friendly minigenes for mammalian expression of full-length human NF1 isoforms |
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| In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies |
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| Genotype and phenotype variability in Sjögren-Larsson syndrome |
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| The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders |
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| Recessive mutations in the neuronal isoforms of <i>DST</i>
, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI |
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| Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the <i>WWOX</i>
gene in a region of uniparental disomy |
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| Novel<i>POLE</i>pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures |
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| <i>NR5A1</i>gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients |
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| Allele balance bias identifies systematic genotyping errors and false disease associations |
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| Variable population prevalence estimates of germline <i>TP53</i>
variants: A gnomAD-based analysis |
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| Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses |
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| Analysis of the <i>TTR</i>
gene in the investigation of amyloidosis: A 25-year single UK center experience |
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| <i>IQSEC2</i>mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy |
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| The progression of the ClinGen gene clinical validity classification over time |
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| Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group |
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| The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria |
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| On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing |
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| Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community‐driven standards |
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| Cover Image, Volume 39, Issue 11 |
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| Issue Information |
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| Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework |
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| ClinGen advancing genomic data‐sharing standards as a GA4GH driver project |
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| Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss |
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| ClinGen's GenomeConnect registry enables patient‐centered data sharing |
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| ClinVar database of global familial hypercholesterolemia‐associated DNA variants |
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| ClinGen Allele Registry links information about genetic variants |
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| Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes |
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| The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics |
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| ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation |
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| Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene |
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| Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline
<i>CDH1</i>
sequence variants |
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| ClinGen and ClinVar – Enabling Genomics in Precision Medicine |
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| Gene‐specific criteria for
<i>PTEN</i>
variant curation: Recommendations from the ClinGen PTEN Expert Panel |
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| Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach |
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| The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants |
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| Genetic database software as medical devices |
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| ClinVar at five years: Delivering on the promise |
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| Updated recommendation for the benign stand‐alone ACMG/AMP criterion |
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| Framework for microRNA variant annotation and prioritization using human population and disease datasets |
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| Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss |
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| Functional evidence implicating <i>NOTCH2</i>
missense mutations in primary ovarian insufficiency etiology |
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| CardioVAI: An automatic implementation of ACMG-AMP variant interpretation guidelines in the diagnosis of cardiovascular diseases |
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| <i>In vitro</i>functional characterization of the novel<i>DHH</i>mutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis |
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| Is evolutionary loss our gain? The role of
<i>ACTN3</i>
p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease |
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| The mutation-dependent pathogenicity of<i>NPHS2</i>p.R229Q: A guide for clinical assessment |
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| Antisense oligonucleotides modulate dopa decarboxylase function in aromatic <scp>l</scp>
-amino acid decarboxylase deficiency |
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| Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy |
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| Concurrent <i>AFG3L2</i>
and <i>SPG7</i>
mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation |
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| Inhibition of mitochondrial translation in fibroblasts from a patient expressing the KARS p.(Pro228Leu) variant and presenting with sensorineural deafness, developmental delay, and lactic acidosis |
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| <i>matchbox</i>: An open-source tool for patient matching via the Matchmaker Exchange |
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| Current review of<i>TP53</i>pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome |
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| Cover Image, Volume 39, Issue 10 |
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| Issue Information |
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| Diagnosis of Li-Fraumeni Syndrome: Differentiating <i>TP53</i>
germline mutations from clonal hematopoiesis |
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| Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature |
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| <i>BRCA1</i>
and <i>BRCA2</i>
5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding |
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| Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome |
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| Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion |
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| Insights into the genotype-phenotype correlation and molecular function of SLC25A46 |
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| The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function |
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| Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations |
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| Issue Information |
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| Erratum |
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| <i>STAC3</i>variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility |
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| Back Cover, Volume 39, Issue 9 |
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| Cover Image, Volume 39, Issue 9 |
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| Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population |
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✓ |
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European-American population |
| A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a <i>PDCD10</i>
large deletion |
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| Corrigendum |
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| Variable cardiovascular phenotypes associated with <i>SMAD2</i>
pathogenic variants |
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| Functionally significant, novel<i>GATA4</i>variants are frequently associated with Tetralogy of Fallot |
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| Relationship of electrophysiological dysfunction and clinical severity in<i>SCN2A</i>-related epilepsies |
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| hgvs: A Python package for manipulating sequence variants using HGVS nomenclature: 2018 Update |
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| Characterization of mutation spectrum and identification of novel mutations in <i>ATP7B</i>
gene from a cohort of Wilson disease patients: Functional and therapeutic implications |
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| Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the<i>ARSB</i>gene |
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| RheoScale: A tool to aggregate and quantify experimentally determined substitution outcomes for multiple variants at individual protein positions |
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| Exploring genetic modifiers of Gaucher disease: The next horizon |
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| Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks |
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| Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar |
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| Mutations in the gene <i>PDE6C</i>
encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia |
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| LINE- and<i>Alu</i>-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV |
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| Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants |
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| <i>Alu-Alu</i>
mediated intragenic duplications in <i>IFT81</i>
and <i>MATN3</i>
are associated with skeletal dysplasias |
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| Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the<i>SOX9</i>TESCO enhancer |
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| <i>LAMA2</i>gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes |
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| <i>STUB1</i>polyadenylation signal variant AACAAA does not affect polyadenylation but decreases<i>STUB1</i>translation causing SCAR16 |
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| Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing |
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| Disruption of<i>TWIST1</i>translation by 5′ UTR variants in Saethre-Chotzen syndrome |
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| Next generation sequencing identifies double homozygous mutations in two distinct genes (<i>EXPH5</i>
and <i>COL17A1</i>
) in a patient with concomitant simplex and junctional epidermolysis bullosa |
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| Homozygosity for <i>FARSB</i>
mutation leads to Phe-tRNA synthetase-related disease of growth restriction, brain calcification, and interstitial lung disease |
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| Heterozygous missense mutations in<i>NFATC1</i>are associated with atrioventricular septal defect |
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| Mutation update for <i>CYP4F22</i>
variants associated with autosomal recessive congenital ichthyosis |
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| Missense mutations have unexpected consequences: The McArdle disease paradigm |
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| Issue Information |
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| Cover Image, Volume 39, Issue 8 |
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| Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signaling |
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| A mutation of<i>SCN1B</i>associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel |
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| A characterization of postzygotic mutations identified in monozygotic twins |
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| Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing:<i>BRCA2</i>c.7976+5G > T as a case study |
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| Rare<i>RELN</i>variants affect Reelin-DAB1 signal transduction in autism spectrum disorder |
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| Whole genome sequencing and mutation rate analysis of trios with paternal dioxin exposure |
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| The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C-terminal peptide of the ClC-1 channel |
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| Detailed analysis of <i>HTT</i>
repeat elements in human blood using targeted amplification-free long-read sequencing |
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| Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort |
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✓ |
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European cohort |
| Targeted resequencing reveals genetic risks in patients with sporadic idiopathic pulmonary fibrosis |
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| Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders |
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| <i>DMD</i>
genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype |
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| Further delineation of Malan syndrome |
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| Germline variation in the oxidative DNA repair genes<i>NUDT1</i>and<i>OGG1</i>is not associated with hereditary colorectal cancer or polyposis |
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| Cover Image, Volume 39, Issue 7 |
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| Issue Information |
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| Real-world clinical applicability of pathogenicity predictors assessed on<i>SERPINA1</i>mutations in alpha-1-antitrypsin deficiency |
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| Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies |
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| De novo mutations in <i>FLNC</i>
leading to early-onset restrictive cardiomyopathy and congenital myopathy |
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| Issue Information |
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| Cover Image, Volume 39, Issue 6 |
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| Severe neurocognitive and growth disorders due to variation in <i>THOC2</i>
, an essential component of nuclear mRNA export machinery |
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| A novel <i>CLCN5</i>
pathogenic mutation supports Dent disease with normal endosomal acidification |
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| ClinVar Miner: Demonstrating utility of a Web-based tool for viewing and filtering ClinVar data |
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| Autosomal-dominant early-onset spastic paraparesis with brain calcification due to <i>IFIH1</i>
gain-of-function |
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| De novo variants in
<i>RHOBTB2</i>
, an atypical Rho GTPase gene, cause epileptic encephalopathy |
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| A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia |
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| Analysis of intratumor heterogeneity in Neurofibromatosis type 1 plexiform neurofibromas and neurofibromas with atypical features: Correlating histological and genomic findings |
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| Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by <i>TP53</i>
variants |
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| Evidence for <i>GALNT12</i>
as a moderate penetrance gene for colorectal cancer |
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| Clinical and functional characterization of two novel <i>ZBTB20</i>
mutations causing Primrose syndrome |
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| Asthma and allergic rhinitis associate with the <i>rs2229542</i>
variant that induces a p.Lys90Glu mutation and compromises AKR1B1 protein levels |
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| Partial loss-of-function of sodium channel <i>SCN8A</i>
in familial isolated myoclonus |
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| Mutations and common variants in the human arginase 1 (<i>ARG1</i>) gene: Impact on patients, diagnostics, and protein structure considerations |
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| <i>MECP2</i>
variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases |
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| Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes |
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| Seshat: A Web service for accurate annotation, validation, and analysis of<i>TP53</i>variants generated by conventional and next-generation sequencing |
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| NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes |
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| Novel<i>CASK</i>mutations in cases with syndromic microcephaly |
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| Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in <i>DPYD</i>
spanni |
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| Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in <i>IFT140</i> |
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| De novo mutations in the<i>SET</i>nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability |
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| Insight into vitamin B<sub>6</sub>-dependent epilepsy due to<i>PLPBP</i>(previously<i>PROSC</i>) missense mutations |
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| Genotype-specific progression of hereditary medullary thyroid cancer |
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| Cover Image, Volume 39, Issue 5 |
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| Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst |
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| Issue Information |
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| Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism |
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| <i>MERTK</i>
mutation update in inherited retinal diseases |
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| Yet another database? |
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| Mutation update for the<i>GPC3</i>gene involved in Simpson-Golabi-Behmel syndrome and review of the literature |
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| Inferring the effect of genomic variation in the new era of genomics |
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| A<i>PIGH</i>mutation leading to GPI deficiency is associated with developmental delay and autism |
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| A homozygous variant disrupting the <i>PIGH</i>
start-codon is associated with developmental delay, epilepsy, and microcephaly |
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| Compound heterozygosity for loss-of-function <i>FARSB</i>
variants in a patient with classic features of recessive aminoacyl-tRNA synthetase-related disease |
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| Novel approach to functional SNPs discovery from genome-wide data reveals promising variants for colon cancer risk |
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| <i>STX2</i>is a causative gene for nonobstructive azoospermia |
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| MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion |
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| Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers |
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| Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of<i>TTC37</i>and<i>SKIV2L</i>, clinical analysis and future prospects |
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| Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors |
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| Neurofibromin (<i>NF1</i>
) genetic variant structure-function analyses using a full-length mouse cDNA |
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| Issue Information |
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| Cover Image, Volume 39, Issue 4 |
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| ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes |
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| A functional polymorphism in the <i>pre-miR-146a</i>
gene is associated with the risk of nonsyndromic orofacial cleft |
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| Erratum |
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| Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser |
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| The <i>BRCA2</i>
c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity |
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| Text-mined phenotype annotation and vector-based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients |
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| Mutational spectrum in a worldwide study of 29,700 families with<i>BRCA1</i>or<i>BRCA2</i>mutations |
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| MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro |
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| Issue Information |
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| Cover Image, Volume 39, Issue 3 |
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| Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly |
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| A mutation update on the LDS-associated genes<i>TGFB2/3</i>and<i>SMAD2/3</i> |
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| Secretion of wild-type factor IX upon readthrough over<i>F9</i>pre-peptide nonsense mutations causing hemophilia B |
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| Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients |
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| Issue Information |
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| Genotype-phenotype correlations in individuals with pathogenic<i>RERE</i>variants |
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| Mitogenomic differences between the normal and tumor cells of colorectal cancer patients |
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| Cover Image, Volume 39, Issue 2 |
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| Mutation update of transcription factor genes<i>FOXE3</i>,<i>HSF4</i>,<i>MAF</i>, and<i>PITX3</i>causing cataracts and other developmental ocular defects |
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| Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies |
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| Somatic mutations activating Wiskott-Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients |
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| Clinical, biochemical, and genetic features associated with <i>VARS2</i>
-related mitochondrial disease |
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| Genetic contribution of retinoid-related genes to neural tube defects |
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| Loss-of-function mutations in<i>ISCA2</i>disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion |
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| Alu element insertion in<i>PKLR</i>gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients |
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| Targeted copy number screening highlights an intragenic deletion of <i>WDR63</i>
as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish |
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| <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects |
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| Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene |
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| Methods and tools for assessing the impact of genetic variations: The 2017 Annual Scientific Meeting of the Human Genome Variation Society |
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| Thorough in silico and in vitro cDNA analysis of 21 putative<i>BRCA1</i>and<i>BRCA2</i>splice variants and a complex tandem duplication in<i>BRCA2</i>allowing the identification of activated cryptic s |
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| Exonic mutations and exon skipping: Lessons learned from <i>DFNA5</i> |
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| Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant |
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| <i>Cis</i>variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules |
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| <i>MYO5B</i>,<i>STX3</i>, and<i>STXBP2</i>mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update |
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| Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database |
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| Autosomal recessive primary microcephaly due to <i>ASPM</i>
mutations: An update |
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| A noncoding variant in <i>GANAB</i>
explains isolated polycystic liver disease (PCLD) in a large family |
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