| Mutations in
<i>KIF7</i>
implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish |
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| GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases |
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| Functional and clinical implications of genetic structure in 1686 Italian exomes |
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| Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance |
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| Issue Information |
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| Functionally deficient
<i>TRPV6</i>
variants contribute to hereditary and familial chronic pancreatitis |
|
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| <i>EFEMP1</i>
rare variants cause familial juvenile‐onset open‐angle glaucoma |
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| Vulnerable exons, like
<i>ACADM</i>
exon 5, are highly dependent on maintaining a correct balance between splicing enhancers and silencers |
|
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| Novel biallelic mutations in<i>SLC26A8</i>cause severe asthenozoospermia in humans owing to midpiece defects: Insights into a putative dominant genetic disease |
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| <i>ROHMM</i>—A flexible hidden Markov model framework to detect runs of homozygosity from genotyping data |
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| Harmonizing variant classification for return of results in the All of Us Research Program |
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| A decade of
<i>RAD51C</i>
and
<i>RAD51D</i>
germline variants in cancer |
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| Generation and mutational analysis of a transgenic mouse model of human<i>SRY</i> |
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| Response to: Phenotypic heterogeneity of Leigh syndrome due to
<i>NDUFA12</i>
variants is multicausal |
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| Phenotypic heterogeneity of Leigh syndrome due to
<i>NDUFA12</i>
variants is multicausal |
|
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| Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor |
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| Variant calling: Considerations, practices, and developments |
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| Long‐read whole genome sequencing reveals HOXD13 alterations in synpolydactyly |
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| The enhancer rare germline variation rs548071605 contributes to lung cancer development |
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| Variant interpretation using population databases: Lessons from gnomAD |
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| The clinical and molecular spectrum of
<i>QRICH1</i>
associated neurodevelopmental disorder |
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| Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods |
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| Imaging‐based evaluation of pathogenicity by novel
<i>DNM2</i>
variants associated with centronuclear myopathy |
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| <i>NR2F1</i>database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome |
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| Pseudoexon activation in disease by non‐splice site deep intronic sequence variation — wild type pseudoexons constitute high‐risk sites in the human genome |
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| Annotating and prioritizing genomic variants using the Ensembl Variant Effect Predictor—A tutorial |
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| GGCX variants leading to biallelic deficiency to γ‐carboxylate GRP cause skin laxity in VKCFD1 patients |
|
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| A novel gene mutation in
<i>ZP3</i>
loop region identified in patients with empty follicle syndrome |
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| Constitutional
<i>POLE</i>
variants causing a phenotype reminiscent of constitutional mismatch repair deficiency |
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| Novel PHEX gene locus‐specific database: Comprehensive characterization of vast number of variants associated with X‐linked hypophosphatemia (XLH) |
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| Issue Information |
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| Cover, Volume 42, Issue 12 |
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| Identification of novel deep intronic
<i>PAH</i>
gene variants in patients diagnosed with phenylketonuria |
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| Clinical variability at the mild end of
<i>BRAT1</i>
‐related spectrum: Evidence from two families with genotype–phenotype discordance |
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| Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single‐center experience |
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| Utilizing ClinGen gene‐disease validity and dosage sensitivity curations to inform variant classification |
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| Analysis of patient‐specific
<i>NF1</i>
variants leads to functional insights for Ras signaling that can impact personalized medicine |
|
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| Issue Information |
|
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| Cover, Volume 42, Issue 11 |
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| A family study implicates
<i>GBE1</i>
in the etiology of autism spectrum disorder |
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| Duplications in the G3 domain or switch II region in
<i>HRAS</i>
identified in patients with Costello syndrome |
|
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| A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjects |
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| A bi‐allelic loss‐of‐function
<i>SARS1</i>
variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever |
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| Correlation between<i>FBN1</i>mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies |
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| Molecular landscape of<i>DYSF</i>mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective |
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| Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel |
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| Noncoding sequence variants define a novel regulatory element in the first intron of the
<i>N</i>
‐acetylglutamate synthase gene |
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| Epidemiological aspects of hereditary fructose intolerance: A database study |
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| Issue Information |
|
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| Validation of low‐coverage whole‐genome sequencing for mitochondrial DNA variants suggests mitochondrial DNA as a genetic cause of preterm birth |
|
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| Actionable genomic variants in 6045 participants from the Qatar Genome Program |
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| VIP‐HL: Semi‐automated ACMG/AMP variant interpretation platform for genetic hearing loss |
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| Issue Information |
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|
| Altered regulation of
<i>BRCA1</i>
exon 11 splicing is associated with breast cancer risk in carriers of
<i>BRCA1</i>
pathogenic variants |
|
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|
| <i>PRPH2</i>
mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease |
|
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|
| Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population‐genetic approach |
|
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|
| Genome sequencing and RNA‐seq analyses of mitochondrial complex I deficiency revealed
<i>Alu</i>
insertion‐mediated deletion in
<i>NDUFV2</i> |
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|
| Broad variation in phenotypes for common
<i>GAA</i>
genotypes in Pompe disease |
|
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|
| Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of
<i>GALNS</i>
gene variants and reporting of 68 novel variants |
|
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|
| GATA2 deficiency syndrome: A decade of discovery |
|
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|
| A domain damage index to prioritizing the pathogenicity of missense variants |
|
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|
| <i>Fumarate Hydratase</i>
(
<i>FH</i>
) c.1431_1433dupAAA (p.Lys477dup) variant is not associated with FH protein deficiency and increased 2SC in two separate patie |
|
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|
| Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit |
|
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|
| SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature |
|
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|
| Epistatic interaction of
<i>PDE4DIP</i>
and
<i>DES</i>
mutations in familial atrial fibrillation with slow conduction |
|
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| Corrigendum |
|
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|
|
| Issue Information |
|
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|
| An updated quantitative model to classify missense variants in the
<i>TP53</i>
gene: A novel multifactorial strategy |
|
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|
| Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes |
|
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| Lack of
<i>MECP2</i>
gene transcription on the duplicated alleles of two related asymptomatic females with Xq28 duplications and opposite X‐chromosome inactivation skewing |
|
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|
| Functional characterization of novel variants in
<i>SMPD1</i>
in Indian patients with acid sphingomyelinase deficiency |
|
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|
| Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers–Danlos syndrome |
|
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|
| Variants of human
<i>CLDN9</i>
cause mild to profound hearing loss |
|
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|
| YMrCA: Improving Y‐chromosomal ancestor time estimation for DNA kinship research |
|
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|
|
| The prevalence of HLA‐I LOH in Chinese pan‐cancer patients and genomic features of patients harboring HLA‐I LOH |
|
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|
| A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the
<i>OCA2</i>
locus |
|
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|
|
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|
|
| Case–case analysis addressing ascertainment bias for multigene panel testing implicates
<i>BRCA1</i>
and
<i>PALB2</i>
in endometrial cancer |
|
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|
|
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|
|
| Genetic landscape of recessive diseases in the Vietnamese population from large‐scale clinical exome sequencing |
|
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|
| A discarded synonymous variant in
<i>NPHP3</i>
explains nephronophthisis and congenital hepatic fibrosis in several families |
|
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|
| Muscarinic acetylcholine receptor M1 mutations causing neurodevelopmental disorder and epilepsy |
|
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|
|
| Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR |
|
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| Issue Information |
|
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|
| Upstream ORF frameshift variants in the<i>PAX6</i>5ʹUTR cause congenital aniridia |
|
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|
|
| CanVaS: Documenting the genetic variation spectrum of Greek cancer patients |
|
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| Myopathy can be a key phenotype of membrin (GOSR2) deficiency |
|
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| Genes affecting ionizing radiation survival identified through combined exome sequencing and functional screening |
|
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|
|
| Global spectrum of population‐specific common missense variation in cytochrome P450 pharmacogenes |
|
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|
|
| Identification of seven exonic variants in the
<i>SLC4A1</i>
,
<i>ATP6V1B1</i>
, and
<i>ATP6V0A4</i>
genes that alter RNA splici |
|
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|
| Prevalence and phenotype associations of complement factor I mutations in geographic atrophy |
|
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|
| A Functional Variant on 9p21.3 Related to Glioma Risk Affects Enhancer Activity and Modulates Expression of
<i>CDKN2B‐AS1</i> |
|
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|
|
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|
|
| Further evidence for
<i>de novo</i>
variants in
<i>SYNCRIP</i>
as the cause of a neurodevelopmental disorder |
|
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|
|
|
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|
|
| Genome sequencing in congenital cataracts improves diagnostic yield |
|
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|
|
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|
|
| Novel
<i>ALDH3A2</i>
mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients |
|
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|
|
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|
|
| Biallelic variants in
<i>RNU12</i>
cause CDAGS syndrome |
|
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|
|
| Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data |
|
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|
|
| Integrated in silico and experimental assessment of disease relevance of
<i>PCDH19</i>
missense variants |
|
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|
|
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|
|
| Biallelic deep intronic variant c.5457+81T>A in
<i>TRIP11</i>
causes loss of function and results in achondrogenesis 1A |
|
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|
|
|
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|
|
| Incorporation of exome‐based CNV analysis makes trio‐WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study |
|
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|
|
|
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|
|
| Common polymorphic
<i>OTC</i>
variants can act as genetic modifiers of enzymatic activity |
|
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|
|
|
|
|
|
| Dissection of contiguous gene effects for deletions around
<i>ERF</i>
on chromosome 19 |
|
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|
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|
|
| Issue Information |
|
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|
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|
|
| Genetic pleiotropy of
<i>ERCC6</i>
loss‐of‐function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries |
|
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|
|
|
|
✓ |
|
diverse ancestries |
| Extending the allelic spectrum at noncoding risk loci of orofacial clefting |
|
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|
|
|
|
|
|
|
| A novel
<i>GSN</i>
variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type |
|
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|
|
|
✓ |
|
Finnish |
| New insights into the role of endoplasmic reticulum‐associated degradation in Bartter Syndrome Type 1 |
|
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|
|
|
|
|
|
| Identification of missense
<i>MAB21L1</i>
variants in microphthalmia and aniridia |
|
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|
|
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|
|
| Exome sequencing as the first‐tier test for pediatric respiratory diseases: A single‐center study |
|
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|
|
|
|
|
|
|
| Bi‐allelic
<i>KARS1</i>
pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease |
|
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|
|
|
|
|
|
| Benchmarking deep learning splice prediction tools using functional splice assays |
|
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|
|
| Broadening the phenotypic spectrum and physiological insights related to<i>EIF2S3</i>variants |
|
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|
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|
|
| von Willebrand factor propeptide missense variants affect anterograde transport to Golgi resulting in ER retention |
|
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|
|
|
|
|
|
| New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder |
|
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|
|
|
|
|
|
|
| Issue Information |
|
|
|
|
|
|
|
|
|
| Cover, Volume 42, Issue 5 |
|
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|
|
|
|
|
|
|
| Cover, Volume 42, Issue 4 |
|
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|
|
|
|
|
|
| Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder |
|
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|
|
|
|
|
|
| Issue Information |
|
|
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|
|
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|
|
| Clinical, neuroimaging, and molecular spectrum of
<i>TECPR2</i>
‐associated hereditary sensory and autonomic neuropathy with intellectual disability |
|
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|
|
|
|
|
|
| Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability |
|
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|
|
|
|
|
|
| <i>CNGB1</i>
‐related rod‐cone dystrophy: A mutation review and update |
|
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|
|
|
|
|
|
|
| Prediction of disease‐associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features |
|
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|
|
|
|
|
|
| Haploinsufficiency of
<i>POU4F1</i>
causes an ataxia syndrome with hypotonia and intention tremor |
|
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|
|
|
|
|
|
|
| More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome |
|
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|
|
|
|
|
|
|
| Beyond copy number: A new, rapid, and versatile method for sequencing the entire
<i>SMN2</i>
gene in SMA patients |
|
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|
|
|
|
|
|
|
| Lung‐specific distant enhancer cis regulates expression of<i>FOXF1</i>and lncRNA<i>FENDRR</i> |
|
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|
|
|
|
|
|
|
| Novel
<i>NDUFA12</i>
variants are associated with isolated complex I defect and variable clinical manifestation |
|
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|
|
|
|
|
|
|
| Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence |
|
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|
|
|
|
|
|
| KATK: Fast genotyping of rare variants directly from unmapped sequencing reads |
|
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|
|
|
|
|
|
|
| Altered DNA repair creates novel Alu/Alu repeat‐mediated deletions |
|
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|
|
|
|
|
|
|
| Comprehensive characterization of
<i>Alu</i>
‐mediated breakpoints in germline
<i>VHL</i>
gene deletions and rearrangements in patients from 71 VHL fami |
|
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|
|
|
|
|
|
|
| Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B |
|
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|
|
|
|
|
|
|
| A single NGS‐based assay covering the entire genomic sequence of the
<i>DMD</i>
gene facilitates diagnostic and newborn screening confirmatory testing |
|
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|
|
|
|
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|
|
| Phenotypic and protein localization heterogeneity associated with
<i>AHDC1</i>
pathogenic protein‐truncating alleles in Xia–Gibbs syndrome |
|
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|
|
|
|
|
|
| The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2) |
|
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|
|
|
|
|
|
|
| Loss‐of‐function variants in
<i>ARHGEF9</i>
are associated with an X‐linked intellectual disability dominant disorder |
|
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|
|
|
|
|
|
|
| Corrigendum |
|
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|
|
|
|
|
|
| A global analysis of the reconstitution of PTEN function by translational readthrough of<i>PTEN</i>pathogenic premature termination codons |
|
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|
|
|
|
|
|
| Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease |
|
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|
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|
|
|
| Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with
<i>MMP20</i> |
|
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|
|
|
|
|
|
| Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model |
|
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|
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|
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|
|
| Diversity of functional alterations of the ClC‐5 exchanger in the region of the proton glutamate in patients with Dent disease 1 |
|
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|
|
|
|
|
|
|
| Re‐evaluating the pathogenicity of the c.783+2T>C
<i>BAP1</i>
germline variant |
|
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|
|
|
|
|
|
|
| MutSpliceDB: A database of splice sites variants with RNA‐seq based evidence on effects on splicing |
|
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|
|
|
|
|
|
|
| Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects |
|
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|
|
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|
|
|
| TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development |
|
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|
| Cancer SIGVAR: A semiautomated interpretation tool for germline variants of hereditary cancer‐related genes |
|
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|
|
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|
|
| Issue Information |
|
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|
| Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum |
|
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| The reversion variant (p.Arg90Leu) at the evolutionarily adaptive p.Arg90 site in CELA3B predisposes to chronic pancreatitis |
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| <i>CHM</i>
mutation spectrum and disease: An update at the time of human therapeutic trials |
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| Relationship of
<i>DUX4</i>
and target gene expression in FSHD myocytes |
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| Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project |
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| Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in
<i>NDUFB7</i> |
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| A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early‐onset monogenic disorders in Indians |
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| Cover, Volume 42, Issue 2 |
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| Erratum |
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| Issue Information |
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| Cover, Volume 42, Issue 2 |
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| Molecular characterization of pathogenic
<i>OTOA</i>
gene conversions in hearing loss patients |
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| SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate
<i>GREM1</i>
gene expression |
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| The genomic landscape of pediatric rheumatology disorders in the Middle East |
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| Functional characterization of
<i>ABCC8</i>
variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accura |
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