| The following articles for this Special Issue were published after the original collection was released. They can be found in their respective issues or online: |
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| Front Cover, Volume 41, Issue 1 |
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| Issue Information |
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| Inside Back Cover, Volume 41, Issue 1 |
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| Comprehensive profiling of
<i>BRCA1 and BRCA2</i>
variants in breast and ovarian cancer in Chinese patients |
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| Pred‐MutHTP: Prediction of disease‐causing and neutral mutations in human transmembrane proteins |
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| The recurrent postzygotic pathogenic variant p.Glu47Lys in
<i>RHOA</i>
causes a novel recognizable neuroectodermal phenotype |
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| High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing oc |
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| Comparison of the functional and structural characteristics of rare
<i>TSC2</i>
variants with clinical and genetic findings |
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| Analysis of<i>CLCNKB</i>mutations at dimer‐interface, calcium‐binding site, and pore reveals a variety of functional alterations in ClC‐Kb channel leading to Bartter syndrome |
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| <i>SCN1A</i>
variants from bench to bedside—improved clinical prediction from functional characterization |
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| Issue Information |
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| Back Cover, Volume 40, Issue 12 |
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| Front Cover, Volume 40, Issue 12 |
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| Inside Back Cover, Volume 40, Issue 12 |
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| Recurrent arginine substitutions in the
<i>ACTG2</i>
gene are the primary driver of disease burden and severity in visceral myopathy |
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| Congenital myasthenic syndrome due to mutations in
<i>MUSK</i>
suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure |
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| Whole
<i>MYBPC3</i>
NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy |
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| DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility |
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| DualWMDR: Detecting epistatic interaction with dual screening and multifactor dimensionality reduction |
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| CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age |
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| Exonic rearrangements in
<i>DMD</i>
in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies |
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✓ |
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Chinese Han |
| <i>TJP2</i>
hepatobiliary disorders: Novel variants and clinical diversity |
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| Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways |
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| Truncating variants in
<i>UBAP1</i>
associated with childhood‐onset nonsyndromic hereditary spastic paraplegia |
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| Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia |
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| The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition |
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| A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders |
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| Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype‐weighted knowledge in the CAGI SickKids5 clinical genomes challenge |
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| Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants |
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| Trio‐whole‐exome sequencing and preimplantation genetic diagnosis for unexplained recurrent fetal malformations |
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| Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel
<i>GFM1</i>
mutations |
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| The CYSMA web server: An example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders |
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| Recurrent
<i>TTN</i>
metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy |
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| Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in<i>AP4S1</i>in a sibling pair with progressive spastic paraplegia |
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| Long‐read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel–Gruber syndrome |
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| Front Cover, Volume 40, Issue 11 |
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| Issue Information |
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| Missense variants in
<i>TAF1</i>
and developmental phenotypes: Challenges of determining pathogenicity |
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| A DM1 family with interruptions associated with atypical symptoms and late onset but not with a milder phenotype |
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| Disease‐associated polymorphisms within the conserved ECR1 enhancer differentially regulate the tissue‐specific activity of the cannabinoid‐1 receptor gene promoter; implications for cannabinoid pharm |
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| Systematic quantification of the anion transport function of pendrin (SLC26A4) and its disease‐associated variants |
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| Clinical spectrum of individuals with pathogenic
<i>
<b>N</b>
F1
</i>
missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: g |
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| Combined in vitro and in silico analyses of missense mutations in
<i>GNPTAB</i>
provide new insights into the molecular bases of mucolipidosis II and III alpha/beta |
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| Next‐generation sequencing for the diagnosis of<i>MYH9</i>‐RD: Predicting pathogenic variants |
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| Front Cover, Volume 40, Issue 10 |
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| Issue Information |
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| Deep‐intronic variants in
<i>CNGB3</i>
cause achromatopsia by pseudoexon activation |
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| Curating the gnomAD database: Report of novel variants in the globin‐coding genes and bioinformatics analysis |
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| Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon? |
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| Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity‐onset diabetes of the young |
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| Novel<i>IQCE</i>variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish |
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| Heterozygous pathogenic variants in<i>GLI1</i>are a common finding in isolated postaxial polydactyly A/B |
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| Front Cover, Volume 40, Issue 9 |
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| Back Cover, Volume 40, Issue 9 |
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| Issue Information |
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| SERPING1 mutation update: Mutation spectrum and C1 Inhibitor phenotypes |
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| A founder variant in the South Asian population leads to a high prevalence of<i>FANCL</i>Fanconi anemia cases in India |
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✓ |
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South Asian population |
| Expanding the genetic and phenotypic relevance of
<i>KCNB1</i>
variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature |
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| Mutation update for the<i>NR5A1</i>gene involved in DSD and infertility |
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| Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations |
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| Mutations in<i>RPSA</i>and<i>NKX2‐3</i>link development of the spleen and intestinal vasculature |
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| Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017 |
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| A substantial proportion of apparently heterozygous<i>TP53</i>pathogenic variants detected with a next‐generation sequencing hereditary pan‐cancer panel are acquired somatically |
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| Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics |
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| <i>TBX6</i>
missense variants expand the mutational spectrum in a non‐Mendelian inheritance disease |
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| Novel missense mutation in
<i>VPS33B</i>
is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfun |
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| A key leader in homocystinuria research: Jan P. Kraus (1942–2019) |
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| Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele |
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| A rare heterozygous
<i>TREM2</i>
coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2 |
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| A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC) |
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| Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome |
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| From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic
<i>PARN</i>
pathogenic variants |
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| Tubular aggregate myopathy and Stormorken syndrome: Mutation spectrum and genotype/phenotype correlation |
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| <i>CRAT</i>
missense variants cause abnormal carnitine acetyltransferase function in an early‐onset case of Leigh syndrome |
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| Fumarate hydratase<i>FH</i>c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma |
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| Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data |
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| De novo<i>GRIN</i>variants in NMDA receptor M2 channel pore‐forming loop are associated with neurological diseases |
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| <i>CAPN5</i>
genetic inactivation phenotype supports therapeutic inhibition trials |
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| Issue Information |
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| Efficient variant data preparation for <i>Human Mutation</i>
manuscripts: Variants and phenotypes |
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| Mutations in
<i>PLS1</i>
, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss |
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| Back Cover, Volume 40, Issue 8 |
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| Front Cover, Volume 40, Issue 8 |
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| Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders |
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| Identification of splice defects due to noncanonical splice site or deep‐intronic variants in
<i>ABCA4</i> |
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| Dominant‐negative<i>SOX9</i>mutations in campomelic dysplasia |
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| Corrigendum |
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| Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light |
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| Genome‐wide transcriptomic and proteomic studies of Rett syndrome mouse models identify common signaling pathways and cellular functions as potential therapeutic targets |
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| <i>ATP1A1</i>mutations cause intermediate Charcot‐Marie‐Tooth disease |
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| Congenital disorders of glycosylation and the challenge of rare diseases |
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| Issue Information |
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| Pitfalls in the interpretation of
<i>CFTR</i>
variants in the context of incidental findings |
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| Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples |
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| Checklist for gene/disease‐specific variation database curators to enable ethical data management |
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| Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in
<i>NIPAL4</i> |
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| In Memoriam: Emeritus Professor Sue (Margaret Susan) Povey [1942–2019] |
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| Assessment of predicted enzymatic activity of α‐
<i>N</i>
‐acetylglucosaminidase variants of unknown significance for CAGI 2016 |
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| Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification |
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| Iranome: A catalog of genomic variations in the Iranian population |
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| Incorporation of semi‐quantitative analysis of splicing alterations for the clinical interpretation of variants in<i>BRCA1</i>and<i>BRCA2</i>genes |
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| <i>GAA</i>
variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry |
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| Ten years of
<i>DICER1</i>
mutations: Provenance, distribution, and associated phenotypes |
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| Reports from the fifth edition of CAGI: The Critical Assessment of Genome Interpretation |
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| CAGI5: Objective performance assessments of predictions based on the Evolutionary Action equation |
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| Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in
<i>GAA</i>
exon 2 and their recovery using antis |
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| Assessing computational predictions of the phenotypic effect of cystathionine‐beta‐synthase variants |
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| Assessing predictions of the impact of variants on splicing in CAGI5 |
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| Biallelic variants in
<i>CTU2</i>
cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34 |
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| CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases |
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| A functional variant in the miR‐142 promoter modulating its expression and conferring risk of Alzheimer disease |
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| The novel p.Ser263Phe mutation in the human high‐affinity choline transporter 1 (CHT1/
<i>SLC5A7</i>
) causes a lethal form of fetal akinesia syndrome |
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| Future directions for high‐throughput splicing assays in precision medicine |
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| Compound heterozygous<i>ZP1</i>mutations cause empty follicle syndrome in infertile sisters |
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| Novel SCA19/22‐associated
<i>KCND3</i>
mutations disrupt human K
<sub>V</sub>
4.3 protein biosynthesis and channel gating |
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| Assessment of blind predictions of the clinical significance of
<i>BRCA1</i>
and
<i>BRCA2</i>
variants |
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| LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies |
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| Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes |
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| VIPdb, a genetic Variant Impact Predictor Database |
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| Mutation update: Review of
<i>TPP1</i>
gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease |
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| Assessing predictions on fitness effects of missense variants in calmodulin |
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| Rs2262251 in lncRNA
<i>RP11‐462G12.2</i>
is associated with nonsyndromic cleft lip with/without cleft palate |
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| Mutation update on
<i>ACAT1</i>
variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency |
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| Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants |
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| What went wrong with variant effect predictor performance for the PCM1 challenge |
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| Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome |
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| Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations |
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| Extension of the Pompe mutation database by linking disease‐associated variants to clinical severity |
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| Structural variation at the
<i>CYP2C</i>
locus: Characterization of deletion and duplication alleles |
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| Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI‐5 |
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| <i>TAB2</i>
c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasis |
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| Predicting changes in protein stability caused by mutation using sequence‐and structure‐based methods in a CAGI5 blind challenge |
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| Contribution to colonic polyposis of recently proposed predisposing genes and assessment of the prevalence of
<i>NTHL1</i>
‐ and
<i>MSH3</i>
‐associated |
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| Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer |
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✓ |
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Hispanic females |
| Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis |
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| Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder |
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| Contribution of functionally assessed
<i>GHRHR</i>
mutations to idiopathic isolated growth hormone deficiency in patients without
<i>GH1</i>
mutations |
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| Novel<i>ACTN1</i>variants in cases of thrombocytopenia |
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| Functional interrogation of Lynch syndrome‐associated<i>MSH2</i>missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cells |
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| Predicting functional variants in enhancer and promoter elements using RegulomeDB |
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| Gene‐specific features enhance interpretation of mutational impact on acid α‐glucosidase enzyme activity |
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| Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease |
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| Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans |
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| Cost‐effective molecular inversion probe‐based
<i>ABCA4</i>
sequencing reveals deep‐intronic variants in Stargardt disease |
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| Characterization of intellectual disability and autism comorbidity through gene panel sequencing |
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| The spectrum of
<i>BRCA1</i>
and
<i>BRCA2</i>
pathogenic sequence variants in Middle Eastern, North African, and South European countries |
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✓ |
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South European |
| Evaluating the predictions of the protein stability change upon single amino acid substitutions for the FXN CAGI5 challenge |
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| Homozygous loss‐of‐function variants of
<i>TASP1</i>
, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, |
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| Deleterious de novo variants of X‐linked
<i>ZC4H2</i>
in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita |
|
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| A mutation creating an upstream translation initiation codon in
<i>SLC22A5</i>
5′UTR is a frequent cause of primary carnitine deficiency |
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| Assessment of methods for predicting the effects of PTEN and TPMT protein variants |
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| Large‐scale functional<i>LIPA</i>variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency |
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| A Vietnamese human genetic variation database |
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| Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment |
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| Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge |
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| Identifying mutation‐driven changes in gene functionality that lead to venous thromboembolism |
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| Predicting pathogenicity of missense variants with weakly supervised regression |
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| Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges |
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| First estimate of the scale of canonical 5′ splice site GT>GC variants capable of generating wild‐type transcripts |
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| Single‐nucleotide editing: From principle, optimization to application |
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| Large scale multifactorial likelihood quantitative analysis of
<i>BRCA1</i>
and
<i>BRCA2</i>
variants: An ENIGMA resource to support clinical variant cl |
|
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| Meta‐analysis of massively parallel reporter assays enables prediction of regulatory function across cell types |
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| Disease‐associated missense variants in ZBTB18 disrupt DNA binding and impair the development of neurons within the embryonic cerebral cortex |
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| <i>BRCA1</i>and<i>BRCA2</i>pathogenic sequence variants in women of African origin or ancestry |
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✓ |
|
women of African origin or ancestry |
| <i>BRCA1</i>
‐ and
<i>BRCA2</i>
‐specific in silico tools for variant interpretation in the CAGI 5 ENIGMA challenge |
|
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| Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay |
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| Exploring the use of molecular dynamics in assessing protein variants for phenotypic alterations |
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| Functional analysis of new variants at the Low Density Lipoprotein Receptor associated with familial hypercholesterolemia |
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| Issue Information |
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| Front Cover, Volume 40, Issue 6 |
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| Back Cover, Volume 40, Issue 6 |
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| Mutations in<i>KARS</i>cause a severe neurological and neurosensory disease with optic neuropathy |
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| MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains |
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| A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β‐thalassemia major |
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| Predicting the impact of single nucleotide variants on splicing via sequence‐based deep neural networks and genomic features |
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| Using secondary structure to predict the effects of genetic variants on alternative splicing |
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| Characterization of human frataxin missense variants in cancer tissues |
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| CAGI 5 splicing challenge: Improved exon skipping and intron retention predictions with MMSplice |
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| Predicting the change of exon splicing caused by genetic variant using support vector regression |
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| CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools |
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| Are machine learning based methods suited to address complex biological problems? Lessons from CAGI‐5 challenges |
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| Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus |
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| A fully‐automated event‐based variant prioritizing solution to the CAGI5 intellectual disability gene panel challenge |
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| Neurofibromatosis type 1‐related pseudarthrosis: Beyond the pseudarthrosis site |
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| A functional assay to classify
<i>ZBTB24</i>
missense variants of unknown significance |
|
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| Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the
<i>GNAT2</i>
gene |
|
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| Mutations in
<i>TIMM50</i>
cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology |
|
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| Heterozygous variants in
<i>MYBPC1</i>
are associated with an expanded neuromuscular phenotype beyond arthrogryposis |
|
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| Clinical and functional characterization of a novel RASopathy‐causing<i>SHOC2</i>mutation associated with prenatal‐onset hypertrophic cardiomyopathy |
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| The TALE homeodomain of PBX1 is involved in human primary testis‐determination |
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| Biallelic variants in
<i>DNA2</i>
cause microcephalic primordial dwarfism |
|
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| Mutations in<i>ELAC2</i>associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing |
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| Functional classification of
<i>ATM</i>
variants in ataxia‐telangiectasia patients |
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| eDiVA—Classification and prioritization of pathogenic variants for clinical diagnostics |
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| Modified U1 snRNA and antisense oligonucleotides rescue splice mutations in
<i>SLC26A4</i>
that cause hereditary hearing loss |
|
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| Multigenic truncation of the semaphorin–plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome |
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| Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect |
|
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| Mutation update for the
<i>SATB2</i>
gene |
|
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| Concern regarding classification of germline
<i>TP53</i>
variants as likely pathogenic |
|
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| Heterozygosity mapping for human dominant trait variants |
|
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| <i>A2ML1</i>and otitis media: novel variants, differential expression, and relevant pathways |
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| Cover Image, Volume 40, Issue 5 |
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| Issue Information |
|
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| Functional characterization of
<i>CEP250</i>
variant identified in nonsyndromic retinitis pigmentosa |
|
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|
| Response to: Concern regarding classification of germline
<i>TP53</i>
variants as likely pathogenic |
|
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| A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant |
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| Characterizing variants of unknown significance in rhodopsin: A functional genomics approach |
|
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| A snapshot of some pLI score pitfalls |
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| Functional and structural analysis of rare<i>SLC2A2</i>variants associated with Fanconi‐Bickel syndrome and metabolic traits |
|
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| <i>PMS2</i>
expression decrease causes severe problems in mismatch repair |
|
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|
| Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N
<i>‐</i>
related myopathies |
|
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|
| p.Ser891Ala
<i>RET</i>
gene mutations in medullary thyroid cancer: Phenotypical and genealogical characterization of 28 apparently unrelated kindreds and founder effect uncover |
|
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|
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|
|
| Primary microcephaly, primordial dwarfism, and brachydactyly in adult cases with biallelic skipping of
<i>RTTN</i>
exon 42 |
|
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|
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| TP63‐truncating variants cause isolated premature ovarian insufficiency |
|
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|
| Biallelic mutation in
<i>MYH7</i>
and
<i>MYBPC3</i>
leads to severe cardiomyopathy with left ventricular noncompaction phenotype |
|
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|
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|
|
| Identification of a p.Trp403* nonsense variant in
<i>PHEX</i>
causing X‐linked hypophosphatemia by inhibiting p38 MAPK signaling |
|
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|
| Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (
<i>DES</i>
) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly d |
|
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| D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of
<i>D2HGDH</i>
missense variants |
|
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| Screening for rare epigenetic variations in autism and schizophrenia |
|
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| The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on<i>GNPTAB</i>and<i>GNPTG</i>mutations |
|
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|
|
| Issue Information |
|
|
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|
|
| Cover Image, Volume 40, Issue 4 |
|
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|
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| Cover Image, Volume 40, Issue 4 |
|
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|
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| Functional characterization of <i>CHEK2</i>
variants in a <i>Saccharomyces cerevisiae</i>
system |
|
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|
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| Two CFTR mutations within codon 970 differently impact on the chloride channel functionality |
|
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|
| Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in<i>PC</i>and analysis of the genotype–phenotype correlation |
|
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|
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|
|
| Proposition of adjustments to the ACMG‐AMP framework for the interpretation of
<i>MEN1</i>
missense variants |
|
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|
|
|
|
|
|
|
| A quantitative model to predict pathogenicity of missense variants in the
<i>TP53</i>
gene |
|
|
|
|
|
|
|
|
|
| UniProt genomic mapping for deciphering functional effects of missense variants |
|
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|
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|
| Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of
<i>CACNA1F</i>
‐mediated inherited retinal diso |
|
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|
|
|
|
|
|
|
| Prevalence, spectrum, and founder effect of
<i>BRCA1</i>
and
<i>BRCA2</i>
mutations in epithelial ovarian cancer from the Middle East |
|
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|
|
|
|
|
|
|
| <i>NBAS</i>
pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations |
|
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|
|
|
|
|
|
|
| Mutation update:<i>TGFBI</i>pathogenic and likely pathogenic variants in corneal dystrophies |
|
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|
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|
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|
|
| Genetic interpretation and clinical translation of minor genes related to Brugada syndrome |
|
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|
|
| A new in silico approach to investigate molecular aspects of factor IX missense causative mutations and their impact on the hemophilia B severity |
|
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|
|
| SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals |
|
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|
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|
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|
|
| <i>Alu</i>
element insertion in the
<i>MLH1</i>
exon 6 coding sequence as a mutation predisposing to Lynch syndrome |
|
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|
|
| <i>RECQL5</i>: Another DNA helicase potentially involved in hereditary breast cancer susceptibility |
|
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|
| Clinical-genetic features and peculiar muscle histopathology in infantile<i>DNM1L</i>-related mitochondrial epileptic encephalopathy |
|
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|
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|
|
| Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations |
|
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|
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|
|
| <i>MT-ATP6</i>mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases |
|
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|
|
| Issue Information |
|
|
|
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|
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|
|
| Corrigendum |
|
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|
|
| Corrigendum |
|
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|
| Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of<i>SLC12A2</i> |
|
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|
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|
|
| Cover Image, Volume 40, Issue 3 |
|
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|
|
| Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human<i>OTOA</i>variants associated with deafness |
|
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|
| Cerebral hypomyelination associated with biallelic variants of <i>FIG4</i> |
|
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| A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes |
|
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|
|
| Corrigendum |
|
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| High prevalence of cancer‐associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering |
|
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|
|
| Unique noncoding variants upstream of <i>PRDM13</i>
are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy |
|
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|
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|
|
| Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta |
|
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|
|
| Complex <i>ATP7B</i>
mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants |
|
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|
| Phenylalanine hydroxylase variants interact with the co‐chaperone DNAJC12 |
|
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|
|
|
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|
|
| The N‐terminal p.(Ser38Cys)
<i>TIMP3</i>
mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond |
|
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|
|
|
|
|
|
|
| Biochemical and structural characterization of two variants of uncertain significance in the
<i>PMS2</i>
gene |
|
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|
|
|
|
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|
|
| Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variants |
|
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|
|
| Toward mechanistic models for genotype–phenotype correlations in phenylketonuria using protein stability calculations |
|
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|
| Comutation and exclusion analysis in human tumors: A tool for cancer biology studies and for rational selection of multitargeted therapeutic approaches |
|
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|
|
| Cover Image, Volume 40, Issue 2 |
|
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|
| Aberrant RNA splicing is the major pathogenic effect in a knock‐in mouse model of the dominantly inherited c.1430A>G human<i>RPE65</i>mutation |
|
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|
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|
|
| Issue Information |
|
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| UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases |
|
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|
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|
|
| Spectrum of
<i>SLC20A2</i>
,
<i>PDGFRB</i>
,
<i>PDGFB</i>
, and
<i>XPR1</i>
mutations in a large cohort |
|
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|
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|
| A novel mutation of<i>PANK4</i>causes autosomal dominant congenital posterior cataract |
|
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|
|
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|
| Mutational mechanism for
<i>DAB1</i>
(ATTTC)
<sub>n</sub>
insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution |
|
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|
| Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families |
|
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|
| A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern |
|
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| Molecular subtyping of gastric cancer combining genetic and epigenetic anomalies provides distinct clinicopathological features and prognostic impacts |
|
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| Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection |
|
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| New molecular diagnostic trends and biomarkers for amyotrophic lateral sclerosis |
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