| Cover, Volume 42, Issue 1 |
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| Issue Information |
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| Rare coding variants in
<i>MAPK7</i>
predispose to adolescent idiopathic scoliosis |
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| The corrected breakpoint sequence of the homozygous
<i>SPINK1</i>
deletion causing severe infantile isolated exocrine pancreatic insufficiency |
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| Whole‐exome sequencing of non‐
<i>BRCA1/BRCA2</i>
mutation carrier cases at high‐risk for hereditary breast/ovarian cancer |
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| Phenotypic differences of mutation‐negative cases in Gitelman syndrome clinically diagnosed in adulthood |
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| Epidemiological and ES cell‐based functional evaluation of
<i>BRCA2</i>
variants identified in families with breast cancer |
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| A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease |
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| Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease‐associated variants, common sequence variants, and results from newborn screening |
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| Expanding the phenotype of X‐linked SSR4–CDG: Connective tissue implications |
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| Specifications of the ACMG/AMP variant interpretation guidelines for germline
<i>TP53</i>
variants |
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| Identification of SRSF10 as a regulator of
<i>SMN2</i>
ISS‐N1 |
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| New clinical and molecular evidence linking mutations in
<i>ARSG</i>
to Usher syndrome type IV |
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| Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy |
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| Biallelic
<i>TMEM251</i>
variants in patients with severe skeletal dysplasia and extreme short stature |
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| <i>GRIN</i>
database: A unified and manually curated repertoire of
<i>GRIN</i>
variants |
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| Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals |
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| Detection and validation of novel mutations in<i>MERTK</i>in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model |
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| New variants and in silico analyses in GRK1 associated Oguchi disease |
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| A high‐content drug screening strategy to identify protein level modulators for genetic diseases: A proof‐of‐principle in autosomal dominant leukodystrophy |
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| Cover, Volume 41, Issue 12 |
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| Issue Information |
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| Aberrant
<i>COL11A1</i>
splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus |
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| Novel homozygous truncating variants in
<i>ZMYND15</i>
causing severe oligozoospermia and their implications for male infertility |
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| A novel variant in
<i>COX16</i>
causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction |
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| The p.Ser64Leu and p.Pro104Leu missense variants of PALB2 identified in familial pancreatic cancer patients compromise the DNA damage response |
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| A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genes |
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| Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in
<i>NDUFB10</i> |
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| Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses |
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| Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy |
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| Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome |
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| Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome |
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| De novo variants in
<i>CELF2</i>
that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy |
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| A commentary on “A Vietnamese human genetic variation database” |
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| Erratum |
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| Single nucleotide polymorphisms in
<i>CEL‐HYB1</i>
increase risk for chronic pancreatitis through proteotoxic misfolding |
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| Heterogeneous phenotypic expression of
<i>C1QBP</i>
variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number |
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| Response to: “Heterogeneous phenotypic expression of
<i>C1QBP</i>
variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number” |
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| Cover, Volume 41, Issue 11 |
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| Issue Information |
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| <i>USF3</i>modulates osteoporosis risk by targeting<i>WNT16</i>,<i>RANKL</i>,<i>RUNX2</i>, and two GWAS lead SNPs rs2908007 and rs4531631 |
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| Comprehensive analysis and ACMG‐based classification of
<i>CHEK2</i>
variants in hereditary cancer patients |
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| <i>SMN1</i>
copy‐number and sequence variant analysis from next‐generation sequencing data |
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| FREQMAX provides an alternative approach for determining high‐resolution allele frequency thresholds in carrier screening |
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| Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment |
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| Cytogenetically visible inversions are formed by multiple molecular mechanisms |
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| Rare hypomorphic human variation in the heptahelical domain of<i>SMO</i>contributes to holoprosencephaly phenotypes |
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| Issue Information |
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| Cover, Volume 41, Issue 10 |
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| Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous
<i>ASNS</i>
splicing variant in a critically ill neonate |
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| Rescue of common exon‐skipping mutations in cystic fibrosis with modified U1 snRNAs |
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| EuroGEMS.org: Guide and links to online genetic and genomic educational resources, valuable for all levels |
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| Novel
<i>F8</i>
and
<i>F9</i>
gene variants from the PedNet hemophilia registry classified according to ACMG/AMP guidelines |
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| Quantification of DNA methylation independent of sodium bisulfite conversion using methylation‐sensitive restriction enzymes and digital PCR |
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| Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern |
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| Phenotypic expansion in
<i>KIF1A</i>
‐related dominant disorders: A description of novel variants and review of published cases |
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| Functional analysis of<i>Sonic Hedgehog</i>variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model |
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| Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the
<i>EVC</i>
g |
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| Comparative analysis of rare
<i>EDAR</i>
mutations and tooth agenesis pattern in
<i>EDAR</i>
‐ and
<i>EDA</i>
‐associated nonsyn |
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| A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants |
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| Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India |
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| Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation |
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| Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration |
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| Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20 |
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| Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP |
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| Retracted: Identification of seven novel mutations in ABCD1 by a DHPLC‐based assay in Italian patients with X‐linked adrenoleukodystrophy |
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✓ |
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Italian patients |
| Novel genotype–phenotype correlation of functionally characterized
<i>LMX1A</i>
variants linked to sensorineural hearing loss |
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| Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in
<i>RRM2B</i> |
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| Expansion of germline
<i>RPS20</i>
mutation phenotype to include Diamond–Blackfan anemia |
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| Functional consequences of
<i>SLC1A3</i>
mutations associated with episodic ataxia 6 |
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| Familial Mediterranean fever: Penetrance of the p.[Met694Val];[Glu148Gln] and p.[Met694Val];[=] genotypes |
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| Large‐scale comparative evaluation of user‐friendly tools for predicting variant‐induced alterations of splicing regulatory elements |
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| Cover, Volume 41, Issue 8 |
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| Issue Information |
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| Response to: A commentary on “A Vietnamese human genetic variation database” |
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| Cover, Volume 41, Issue 8 |
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| Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines |
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| A commentary on “A Vietnamese human genetic variation database” |
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| Cover, Volume 41, Issue 8 |
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| Cover, Volume 41, Issue 8 |
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| Splicing impact of deep exonic missense variants in
<i>CAPN3</i>
explored systematically by minigene functional assay |
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| Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (
<i>KIF1A</i>
) |
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| De novo mutation and skewed X‐inactivation in girl with
<i>BCAP31</i>
‐related syndrome |
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| Homozygous mutations in
<i>C1QBP</i>
as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions |
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| Clinical and laboratory interpretation of mitochondrial mRNA variants |
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| Long‐term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria |
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| Biallelic loss‐of‐function variants in
<i>TBC1D2B</i>
cause a neurodevelopmental disorder with seizures and gingival overgrowth |
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| Variant effect on splicing regulatory elements, branchpoint usage, and pseudoexonization: Strategies to enhance bioinformatic prediction using hereditary cancer genes as exemplars |
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| EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases |
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| The expanding clinical phenotype of germline
<i>ABL1</i>
‐associated congenital heart defects and skeletal malformations syndrome |
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| Human genes differ by their UV sensitivity estimated through analysis of UV‐induced silent mutations in melanoma |
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| Mandibular‐pelvic‐patellar syndrome is a novel<i>PITX1</i>‐related disorder due to alteration of PITX1 transactivation ability |
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| General population ZBTB18 missense variants influence DNA binding and transcriptional regulation |
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| Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database |
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| Expanding the genotypic and phenotypic spectrum of severe serine biosynthesis disorders |
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| Identification and characterization of novel rapidly mutating Y‐chromosomal short tandem repeat markers |
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| A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity |
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| Issue Information |
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| Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9‐year period |
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| Genotype–phenotype associations in a large
<i>PRPH2</i>
‐related retinopathy cohort |
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| An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy |
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| First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in
<i>FLNC</i> |
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| Xdrop: Targeted sequencing of long DNA molecules from low input samples using droplet sorting |
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| Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation |
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| Integrated multi‐omics data analyses for exploring the co‐occurring and mutually exclusive gene alteration events in colorectal cancer |
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| Suggested application of HER2+ breast tumor phenotype for germline
<i>TP53</i>
variant classification within ACMG/AMP guidelines |
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| <i>ASAH1</i>
pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy |
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| Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review |
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| The expanding<i>LARS2</i>phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy |
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| Hypoparathyroidism, deafness, and renal dysplasia syndrome: 20 Years after the identification of the first<i>GATA3</i>mutations |
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| Mutation prevalence tables for hereditary cancer derived from multigene panel testing |
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| Identification of pathogenic variants of<i>ERLEC1</i>in individuals with Class III malocclusion by exome sequencing |
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| AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants |
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| Single‐fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases |
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| The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype–phenotype relationship and a hotspot on the inner DysF domain |
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| Issue Information |
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| Constraint and conservation of paired‐type homeodomains predicts the clinical outcome of missense variants of uncertain significance |
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| <i>TRPV6</i>
variants confer susceptibility to chronic pancreatitis in the Chinese population |
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| Clinical validity of expanded carrier screening: Evaluating the gene‐disease relationship in more than 200 conditions |
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| 5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity |
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| An update on genetic variants of the<i>NKX2‐5</i> |
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| Bi‐allelic mutations in
<i>HARS1</i>
severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome |
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| The EAHAD blood coagulation factor VII variant database |
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| Pathogenic variants of
<i>DNAJC12</i>
and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia |
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| <i>EFTUD2</i>
missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion‐Almeida type |
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| Rare mutations in the autophagy‐regulating gene
<i>AMBRA1</i>
contribute to human neural tube defects |
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| Issue Information |
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| Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in
<i>KRIT1</i>
gene |
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| Response to: Concern regarding classification of c.703G>A/p.Gly235Arg as a novel missense variant in
<i>KRIT1</i>
gene |
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| Front Cover, Volume 41, Issue 5 |
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| Documentation of clinically relevant genomic biomarker allele frequencies in the next‐generation FINDbase worldwide database |
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| Null phenotype of neurofibromatosis type 1 in a carrier of a heterozygous atypical
<i>NF1</i>
deletion due to mosaicism |
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| TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of
<i>RBM8A</i> |
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| <i>CACNA1H</i>
variants are not a cause of monogenic epilepsy |
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| dbMTS: A comprehensive database of putative human microRNA target site SNVs and their functional predictions |
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| Disease‐causing missense mutations within the N‐terminal transmembrane domain of GlcNAc‐1‐phosphotransferase impair endoplasmic reticulum translocation or Golgi retention |
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| Characterization of intellectual disability and autism comorbidity through gene panel sequencing |
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| Damaging de novo missense variants in<i>EEF1A2</i>lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy |
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| A protective polymorphism in<i>MMP16</i>, improved blood gas levels, and chronic obstructive pulmonary diseases: Family and two population‐based studies |
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| Functional characterization of four ATP‐binding cassette transporter A3 gene (<i>ABCA3</i>) variants |
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| Targeted resequencing reveals rare variants enrichment in multiple sclerosis susceptibility genes |
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| LEAP: Using machine learning to support variant classification in a clinical setting |
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| Issue Information |
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| Large‐scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia |
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| <i>Int22h1/Int22h2</i>
‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features |
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| A mutation update for the
<i>FLNC</i>
gene in myopathies and cardiomyopathies |
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| TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling |
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| Pathogenic
<i>PTPN11</i>
variants involving the poly‐glutamine Gln
<sup>255</sup>
‐Gln
<sup>256</sup>
‐Gln
<sup>257< |
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| AG‐exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG‐dinucleotides |
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| Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform |
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| Missense variants in
<i>TAF1</i>
and developmental phenotypes: Challenges of determining pathogenicity |
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| The X‐linked filaminopathies: Synergistic insights from clinical and molecular analysis |
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| <i>ZMYND11</i>
‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum |
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| <i>Retraction</i>
: Exploring the potential role of disease‐causing mutation in a gene desert: Duplication of noncoding elements 5′ of
<i>GRIA3</i>
is associated wi |
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| Exome sequencing identifies the first genetic determinants of sirenomelia in humans |
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| <i>FANCL</i>
gene mutations in premature ovarian insufficiency |
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| Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes |
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| Update of variants identified in the pancreatic β‐cell K
<sub>ATP</sub>
channel genes
<i>KCNJ11</i>
and
<i>ABCC8</i>
in individu |
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| Issue Information |
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| Front Cover, Volume 41, Issue 3 |
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| <i>BAZ2B</i>
haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder |
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| Functional characterization of the first missense variant in
<i>CEP78</i>
, a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility |
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| De Novo
<i>ARID1B</i>
mutations cause growth delay associated with aberrant Wnt/β–catenin signaling |
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| Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency |
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| Single‐molecule detection of cancer mutations using a novel PCR‐LDR‐qPCR assay |
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| From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria |
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| Mutations in<i>FASTKD2</i>are associated with mitochondrial disease with multi‐OXPHOS deficiency |
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| <i>POLD1</i>
variants leading to reduced polymerase activity can cause hearing loss without syndromic features |
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| Protein‐elongating mutations in<i>MYH11</i>are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease |
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| Issue Information |
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| A protein‐centric approach for exome variant aggregation enables sensitive association analysis with clinical outcomes |
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| Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica |
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| A novel gain‐of‐function mutation in
<i>SCN5A</i>
responsible for multifocal ectopic Purkinje‐related premature contractions |
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| Front Cover, Volume 41, Issue 2 |
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| Reclassification of a frequent African‐origin variant from
<i>PMS2</i>
to the pseudogene
<i>PMS2CL</i> |
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✓ |
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African-origin |
| Osteoporosis genome‐wide association study variant c.3781 C>A is regulated by a novel anti‐osteogenic factor miR‐345‐5p |
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| Molecular insights into the mechanism of nonrecurrent
<i>F8</i>
structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmos |
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| Loss of<i>RAD9B</i>impairs early neural development and contributes to the risk for human spina bifida |
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| Further delineation of putative
<i>ACTB</i>
loss‐of‐function variants: A 4‐patient series |
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| Mutation update: Variants of the CYB5R3 gene in recessive congenital methemoglobinemia |
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| Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function |
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| An intellectual disability‐associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity |
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| Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing |
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| Hermansky–Pudlak syndrome: Mutation update |
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| Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for
<i>TP53</i> |
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| A human minisatellite hosts an alternative transcription start site for
<i>NPRL3</i>
driving its expression in a repeat number‐dependent manner |
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| Issue Information |
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| Response to “Should
<i>FANCL</i>
heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency?” |
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| Should
<i>FANCL</i>
heterozygous pathogenic variants be considered as potentially causative of primary ovarian insufficiency? |
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| Cover, Volume 41, Issue 9 |
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| Cover, Volume 41, Issue 8 |
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