| Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy |
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| Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-<i>ice</i>
-COLD-PCR |
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| An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice |
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| Whole exome sequencing identifies a germline <i>MET</i>
mutation in two siblings with hereditary wild-type <i>RET</i>
medullary thyroid cancer |
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| Issue Information |
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| Cover Image, Volume 39, Issue 1 |
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| Properties of human genes guided by their enrichment in rare and common variants |
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| Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function |
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| Inactivation of <i>AMMECR1</i>
is associated with growth, bone, and heart alterations |
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| Evaluation of exome filtering techniques for the analysis of clinically relevant genes |
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| <i>EYS</i>mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa |
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| A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein |
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| A loss-of-function homozygous mutation in <i>DDX59</i>
implicates a conserved DEAD-box RNA helicase in nervous system development and function |
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| A nonstop variant in <i>REEP1</i>
causes peripheral neuropathy by unmasking a 3′UTR-encoded, aggregation-inducing motif |
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| <i>ERCC4</i>
variants identified in a cohort of patients with segmental progeroid syndromes |
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| Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome |
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| Structural and functional differences in<i>PHOX2B</i>frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome |
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| A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families |
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| Issue Information |
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| Cover Image, Volume 38, Issue 12 |
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| Is Li-Fraumeni syndrome really much more common? |
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| Partial and complete SPINK1 deficiency cause distinct pancreatic phenotypes |
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| Gain-of-function<i>HCN2</i>variants in genetic epilepsy |
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| <i>DCC</i>mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome |
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| Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies |
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| Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification |
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| Enzyme replacement therapy prevents loss of bone and fat mass in murine homocystinuria |
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| Quantitative mapping of genetic similarity in human heritable diseases by shared mutations |
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| A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency |
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| <i>CYP21A2</i>mutation update: Comprehensive analysis of databases and published genetic variants |
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| CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56 |
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| Functional characterization of five<i>NR5A1</i>gene mutations found in patients with 46,XY disorders of sex development |
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| Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development |
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| Cover Image, Volume 38, Issue 11 |
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| Issue Information |
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| Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases |
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| Differential regulation of two<i>FLNA</i>transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies |
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| HUMA: A platform for the analysis of genetic variation in humans |
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| Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome<i>b</i>gene |
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| Missense variants in the X-linked gene<i>PRPS1</i>cause retinal degeneration in females |
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| VariantValidator: Accurate validation, mapping, and formatting of sequence variation descriptions |
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| The evolution of a Web resource: The Galactosemia Proteins Database 2.0 |
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| Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the<i>SPINK1</i>gene |
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| Molecular and clinical spectra of FBXL4 deficiency |
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| Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex |
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| Functional analysis of novel<i>DEAF1</i>variants identified through clinical exome sequencing expands<i>DEAF1</i>-associated neurodevelopmental disorder (DAND) phenotype |
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| Issue Information |
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| Biallelic variants in<i>WARS2</i>encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathy |
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| Cover Image, Volume 38, Issue 10 |
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| Mutations in<i>KARS</i>cause early-onset hearing loss and leukoencephalopathy: Potential pathogenic mechanism |
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| Identification and characterization of three novel mutations in the<i>CASQ1</i>gene in four patients with tubular aggregate myopathy |
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| A disease-associated mutation in the adhesion GPCR BAI2 (<i>ADGRB2</i>) increases receptor signaling activity |
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| Fibroblasts derived from patients with opsismodysplasia display SHIP2-specific cell migration and adhesion defects |
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| Identification and functional analysis of<i>CORIN</i>variants in hypertensive patients |
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| Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification |
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| Higher-than-expected population prevalence of potentially pathogenic germline<i>TP53</i>variants in individuals unselected for cancer history |
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| Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma |
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| Functional and molecular studies in primary carnitine deficiency |
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| Issue Information |
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| Cover Image, Volume 38, Issue 9 |
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| Assessing predictions of fitness effects of missense mutations in SUMO‐conjugating enzyme UBE2I |
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| Novel ID gene
<i>CSNK2B</i>
: The crossover from molecular diagnosis to research continues |
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| Aggregation of population‐based genetic variation over protein domain homologues and its potential use in genetic diagnostics |
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| Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia |
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| <i>CNGB3</i>
mutation spectrum including copy number variations in 552 achromatopsia patients |
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| <i>PAX7</i>mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay |
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| Identification and functional characterization of two missense mutations in
<i>NDRG1</i>
associated with Charcot‐Marie‐Tooth disease type 4D |
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| Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells |
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| Truncating mutation in
<i>CSNK2B</i>
and myoclonic epilepsy |
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| Detection of homozygous deletions in tumor‐suppressor genes ranging from dozen to hundreds nucleotides in cancer models |
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| <i>IDUA</i>
mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I |
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| Implementing pharmacogenomics in modern health care: The 2017 scientific meeting of the Human Genome Variation Society |
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| Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy |
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| IFN-γR1 defects: Mutation update and description of the<i>IFNGR1</i>variation database |
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| Equivalent missense variant in the
<i>FOXP2</i>
and
<i>FOXP1</i>
transcription factors causes distinct neurodevelopmental disorders |
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| FGF9 mutation causes craniosynostosis along with multiple synostoses |
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| Survival among children with “Lethal” congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (
<i>GLDN</i>
) |
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| HDR-del: A tool based on Hamming distance for prioritizing pathogenic chromosomal deletions in exome sequencing |
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| Identification and functional analysis of an<i>ADAMTSL1</i>variant associated with a complex phenotype including congenital glaucoma, craniofacial, and other systemic features in a three‐generation hu |
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| Leveraging splice‐affecting variant predictors and a minigene validation system to identify Mendelian disease‐causing variants among exon‐captured variants of uncertain significance |
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| Rare coding variants in
<i>MAPK7</i>
predispose to adolescent idiopathic scoliosis |
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| The role of de novo mutations in the development of amyotrophic lateral sclerosis |
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| Reports from CAGI: The Critical Assessment of Genome Interpretation |
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| Using whole‐exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology |
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| Issue Information |
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| Pathophysiologic effects of
<i>CHCHD2</i>
variants associated with late‐onset Parkinson disease |
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| Postzygotic single nucleotide mosaicisms and autism risk |
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| When more really means more: WGS standards and quality control |
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| Cover Image, Volume 38, Issue 8 |
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| Analysis of large-scale sequencing cohorts does not support the role of variants in<i>UCP2</i>as a cause of hyperinsulinaemic hypoglycaemia |
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| New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss |
|
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| Characterization of cryptic splicing in germline <i>PTEN</i>
intronic variants in Cowden syndrome |
|
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| <i>BOC</i>
is a modifier gene in holoprosencephaly |
|
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| Compound heterozygosity for loss-of-function<i>GARS</i>variants results in a multisystem developmental syndrome that includes severe growth retardation |
|
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| Investigating DNA-, RNA-, and protein-based features as a means to discriminate pathogenic synonymous variants |
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| Heterozygous variants in<i>ACTL6A</i>, encoding a component of the BAF complex, are associated with intellectual disability |
|
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|
| Quantification of transmission risk in a male patient with a <i>FLNB</i>
mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases |
|
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| Working toward precision medicine: Predicting phenotypes from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges |
|
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| “Matching” consent to purpose: The example of the Matchmaker Exchange |
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| Issue Information |
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| Assessment of variant pathogenicity in a highly admixed population |
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| Cover Image, Volume 38, Issue 7 |
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| MiSynPat: An integrated knowledge base linking clinical, genetic, and structural data for disease-causing mutations in human mitochondrial aminoacyl-tRNA synthetases |
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| Prenatal diagnosis: Down syndrome or more? |
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| DeepBipolar: Identifying genomic mutations for bipolar disorder via deep learning |
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| Semi-automated cancer genome analysis using high-performance computing |
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| <i>CFTR</i>-France, a national relational patient database for sharing genetic and phenotypic data associated with rare<i>CFTR</i>variants |
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| Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function |
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| Hermansky-Pudlak syndrome type 2: Aberrant pre-mRNA splicing and mislocalization of granule proteins in neutrophils |
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| A <i>RAB27A</i>
duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis |
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| <i>CSNK2B</i>
splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy |
|
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|
| Identification of a functional enhancer variant within the chronic pancreatitis‐associated<i>SPINK1</i>c.101A>G (p.Asn34Ser)‐containing haplotype |
|
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| Recessive mutations in
<i>MSTO1</i>
cause mitochondrial dynamics impairment, leading to myopathy and ataxia |
|
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|
| Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI‐blinded contests |
|
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| Mutation of
<i>serine/threonine protein kinase 36</i>
(
<i>STK36</i>
) causes primary ciliary dyskinesia with a central pair defect |
|
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| RettBASE: Rett syndrome database update |
|
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| Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges |
|
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|
| Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4
<i>NAGLU</i>
(Human N‐acetyl‐glucosaminidase) and
<i>UBE2I< |
|
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|
| CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants |
|
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| CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease |
|
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|
| Reporting practices for unsolicited and secondary findings from next‐generation sequencing technologies: Perspectives of laboratory personnel |
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| Missense variant pathogenicity predictors generalize well across a range of function‐specific prediction challenges |
|
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|
| Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
|
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|
| Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge |
|
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|
|
| No significant enrichment of rare functionally defective
<i>CPA1</i>
variants in a large Chinese idiopathic chronic pancreatitis cohort |
|
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|
| Protein destabilization and loss of protein‐protein interaction are fundamental mechanisms in
<i>cblA</i>
‐type methylmalonic aciduria |
|
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|
|
| A recurrent de novo mutation in<i>ACTG1</i>causes isolated ocular coloboma |
|
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|
|
| The novel αB‐crystallin (
<i>CRYAB</i>
) mutation p.D109G causes restrictive cardiomyopathy |
|
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|
| Haplotype reference consortium panel: Practical implications of imputations with large reference panels |
|
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|
| Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy |
|
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|
|
| The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability |
|
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|
| Cover Image, Volume 38, Issue 6 |
|
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|
| Issue Information |
|
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|
|
| Mapping genotype-phenotype associations of nsSNPs in coiled-coil oligomerization domains of the human proteome |
|
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|
|
| De novo<i>IGF2</i>mutation on the paternal allele in a patient with Silver–Russell syndrome and ectrodactyly |
|
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|
| <i>In vitro</i>recapitulation of the site-specific editing (to wild-type) of mutant<i>IDS</i>mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs |
|
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|
| Critical points for an accurate human genome analysis |
|
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|
|
| Exploring the limits of the usefulness of mutagenesis in studies of allosteric mechanisms |
|
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|
|
| Performance of in silico tools for the evaluation of p16INK4a (CDKN2A) variants in CAGI |
|
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|
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|
|
| panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics |
|
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|
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|
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|
|
| Large differences in proportions of harmful and benign amino acid substitutions between proteins and diseases |
|
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|
|
|
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|
|
| Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia |
|
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|
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|
|
| Varied pathological and therapeutic response effects associated with<i>CHCHD2</i>mutant and risk variants |
|
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|
|
| HLA‐HD: An accurate HLA typing algorithm for next‐generation sequencing data |
|
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|
|
|
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|
|
| Stratified polygenic risk prediction model with application to CAGI bipolar disorder sequencing data |
|
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|
|
| The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies |
|
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|
|
| Whole‐protein alanine‐scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanism |
|
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|
| Once doesn't count: Phenotype-driven gene hunting in cohorts |
|
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|
| Bad blood contaminating germline databases? |
|
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|
|
| Issue Information |
|
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|
|
| DaMold: A data-mining platform for variant annotation and visualization in molecular diagnostics research |
|
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|
|
| Cover Image, Volume 38, Issue 5 |
|
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|
|
| Lessons from the CAGI‐4 Hopkins clinical panel challenge |
|
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|
|
| Genetic variants in microRNAs and their binding sites within gene 3′UTRs associate with susceptibility to age-related macular degeneration |
|
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|
|
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|
|
| Aberrant<i>HRAS</i>transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum |
|
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| Detecting<i>PKD1</i>variants in polycystic kidney disease patients by single-molecule long-read sequencing |
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| Microtubule-associated defects caused by <i>EFHC1</i>
mutations in juvenile myoclonic epilepsy |
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| Benchmarking predictions of allostery in liver pyruvate kinase in CAGI4 |
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| Exomic variants of an elderly cohort of Brazilians in the ABraOM database |
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| Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties |
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| Purinergic receptors<i>P2RX4</i>and<i>P2RX7</i>in familial multiple sclerosis |
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| A functional SNP regulated by miR-196a-3p in the 3′UTR of<i>FGF2</i>is associated with bone mineral density in the Chinese population |
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✓ |
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Chinese population |
| Cover Image, Volume 38, Issue 4 |
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| Key insights into the protein tyrosine phosphatase <i>PTPN11</i>
/SHP2 associated with noonan syndrome and cancer |
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| Issue Information |
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| Overstressed response to <i>EIF2S3</i>
variants in MEHMO syndrome |
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| Rare deleterious variants in <i>GRHL3</i>
are associated with human spina bifida |
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| Single-base substitutions in the<i>CHM</i>promoter as a cause of choroideremia |
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| Maternal mutations of<i>FOXF1</i>cause alveolar capillary dysplasia despite not being imprinted |
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| Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy |
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| Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development |
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| Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive |
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| TarSeqQC: Quality control on targeted sequencing experiments in R |
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| Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability |
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| <i>EDNRB</i>mutations cause Waardenburg syndrome type II in the heterozygous state |
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| Nonketotic hyperglycinemia: Functional assessment of missense variants in<i>GLDC</i>to understand phenotypes of the disease |
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| Accurate eQTL prioritization with an ensemble‐based framework |
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| PON‐P and PON‐P2 predictor performance in CAGI challenges: Lessons learned |
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| Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling |
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| Pathogenic <i>ASXL1</i>
somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome |
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| A variant in a<i>cis</i>-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones |
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| Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome |
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| A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans |
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| Predicting gene expression in massively parallel reporter assays: A comparative study |
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| Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i>
) gene |
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| Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications |
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| One Gene, Several Diseases: The Characteristics of Pleiotropic Proteins |
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| Issue Information |
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| Cover Image, Volume 38, Issue 3 |
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| Annotation of functional impact of voltage-gated sodium channel mutations |
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| Loss-of-Function Mutations in <i>KIF15</i>
Underlying a Braddock-Carey Genocopy |
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| An Emerging Female Phenotype with Loss‐of‐Function Mutations in the
<i>Aristaless‐</i>
Related Homeodomain Transcription Factor
<i>ARX</i> |
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| Filamin B Loss-of-Function Mutation in Dimerization Domain Causes Autosomal-Recessive Spondylocarpotarsal Synostosis Syndrome with Rib Anomalies |
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| Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations |
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| Predicting enhancer activity and variant impact using gkm‐SVM |
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| Mutations in the Human Argininosuccinate Synthetase (<i>ASS1</i>) Gene, Impact on Patients, Common Changes, and Structural Considerations |
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| Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications |
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| Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity |
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| Blind prediction of deleterious amino acid variations with SNPs&GO |
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| Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series |
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| Crohn disease risk prediction—Best practices and pitfalls with exome data |
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| <i>FGFR1</i>
Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter Region |
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| Congenital Disorders of Glycosylation: A Pipeline to Treatment? |
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| Cover Image, Volume 38, Issue 2 |
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| Issue Information |
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| Predicting Severity of Disease-Causing Variants |
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| Quantification of Phenotype Information Aids the Identification of Novel Disease Genes |
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| Structural, Functional, and Clinical Characterization of a Novel<i>PTPN11</i>Mutation Cluster Underlying Noonan Syndrome |
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| Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of<i>MYH11</i>and<i>ACTA2</i>Mutations in Aortic Aneurysms |
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| ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy |
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| <i>In Silico</i>Functional Meta-Analysis of 5,962<i>ABCA4</i>Variants in 3,928 Retinal Dystrophy Cases |
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| Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing |
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| Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in<i>TBX6</i>Causes Congenital Scoliosis |
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| <i>EIF2S3</i>Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO |
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| Somatic <i>MED12</i>
Nonsense Mutation Escapes mRNA Decay and Reveals a Motif Required for Nuclear Entry |
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| Non-Coding Variation: The 2016 Annual Scientific Meeting of the Human Genome Variation Society |
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| Heterozygous Pathogenic Variant in<i>DACT1</i>Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome |
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| Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey D |
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| Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications |
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| Doublet-Mediated DNA Rearrangement-A Novel and Potentially Underestimated Mechanism for the Formation of Recurrent Pathogenic Deletions |
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| The Clinical Next-Generation Sequencing Database: A Tool for the Unified Management of Clinical Information and Genetic Variants to Accelerate Variant Pathogenicity Classification |
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| <i>TBK1</i>
Mutation Spectrum in an Extended European Patient Cohort with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis |
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✓ |
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Extended European Patient Cohort |
| PERCH: A Unified Framework for Disease Gene Prioritization |
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| Understanding the Genomic Structure of Copy-Number Variation of the Low-Affinity Fcγ Receptor Region Allows Confirmation of the Association of<i>FCGR3B</i>Deletion with Rheumatoid Arthritis |
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| Assessment of<i>TP53</i>Polymorphisms and<i>MDM2</i>SNP309 in Premenopausal Breast Cancer Risk |
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| Landscape of Pleiotropic Proteins Causing Human Disease: Structural and System Biology Insights |
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| Rare Deleterious<i>PARD3</i>Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation |
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| Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing |
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| Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome |
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