| Issue Information |
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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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| <i>KBTBD13</i>
is a novel cardiomyopathy gene |
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| Germline selection of
<i>PTPN11</i>
(HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants re |
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| <i>HOGA1</i>
gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association |
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| Comprehensive analysis of the
<i>PRPF31</i>
gene in retinitis pigmentosa patients: Four novel
<i>Alu</i>
‐mediated copy number variations at the
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| The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals |
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| New clinical and molecular evidence linking mutations in
<i>ARSG</i>
to Usher syndrome type IV |
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| A recurrent single‐exon deletion in
<i>TBCK</i>
might be under‐recognized in patients with infantile hypotonia and psychomotor delay |
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| VariantAlert: A web‐based tool to notify updates in genetic variant annotations |
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| Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole‐exome sequencing |
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| SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing |
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| TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy |
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| Using single molecule Molecular Inversion Probes as a cost‐effective, high‐throughput sequencing approach to target all genes and loci associated with macular diseases |
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| Multiple endocrine neoplasia type 2 (MEN2) and
<i>RET</i>
specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2
<i>RET</i> |
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| High‐yield identification of pathogenic
<i>NF1</i>
variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing |
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| Biallelic
<i>ADAMTSL4</i>
variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships |
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✓ |
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Chinese |
| Front Cover, Volume 43, Issue 11 |
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| MicroRNA binding site variation is enriched in psychiatric disorders |
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| Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel |
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| Revealing the functions of clonal driver gene mutations in patients based on evolutionary dependencies |
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| Issue Information |
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| Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients |
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| Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in
<i>VPS33A</i> |
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| ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus‐specific patient database |
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| Biallelic loss‐of‐function variants in
<i>EXOC6B</i>
are associated with impaired primary ciliogenesis and cause spondylo‐epi‐metaphyseal dysplasia with joint laxity type 3 |
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| Rare surfactant‐related variants in familial and sporadic pulmonary fibrosis |
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| Biallelic loss‐of‐function mutations in
<i>SEPTIN4</i>
(
<i>C17ORF47</i>
), encoding a conserved annulus protein, cause thin midpiece spermatozoa and ma |
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| Mutation update for the
<i>ACTN2</i>
gene |
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| <i>Human Mutation</i>
special issue on innovations in genomic diagnostics |
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| Next‐generation sequencing errors due to genetic variation in
<i>WRAP53</i>
encoding TCAB1 on chromosome 17 |
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| Functional characterization of a novel
<i>TP53RK</i>
mutation identified in a family with Galloway–Mowat syndrome |
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| Destabilization of mutated human PUS3 protein causes intellectual disability |
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| Mutations in the TBX15‐ADAMTS2 pathway associate with a novel soft palate dysplasia |
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| Next‐generation phenotyping contributing to the identification of a 4.7 kb deletion in
<i>KANSL1</i>
causing Koolen‐de Vries syndrome |
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| Long‐read sequencing for molecular diagnostics in constitutional genetic disorders |
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| Rapid genome sequencing for pediatrics |
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| Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions |
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| Long‐read HiFi sequencing of
<i>NUDT15</i>
: Phased full‐gene haplotyping and pharmacogenomic allele discovery |
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| Issue Information |
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| Cancer‐causing
<i>MAP2K1</i>
mutation in a mosaic patient with cardio‐facio‐cutaneous syndrome and immunodeficiency |
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| Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers |
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| de novo variant calling identifies cancer mutation signatures in the 1000 Genomes Project |
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| <i>CIC</i>
missense variants contribute to susceptibility for spina bifida |
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| A calibrated cell‐based functional assay to aid classification of
<i>MLH1</i>
DNA mismatch repair gene variants |
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| Front Cover, Volume 43, Issue 10 |
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| Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in
<i>FKBP14</i>
: Further insights into the phenotypic spectrum and pathogenic mechanisms |
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| Long read sequencing and expression studies of<i>AHDC1</i>deletions in Xia‐Gibbs syndrome reveal a novel genetic regulatory mechanism |
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| Phasing of de novo mutations using a scaled‐up multiple amplicon long‐read sequencing approach |
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| A survey of current methods to detect and genotype inversions |
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| Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting |
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| Biallelic pathogenic variants in
<i>COX11</i>
are associated with an infantile‐onset mitochondrial encephalopathy |
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| A loss‐of‐function cysteine mutant in fibulin‐3 (EFEMP1) forms aberrant extracellular disulfide‐linked homodimers and alters extracellular matrix composition |
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| AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders |
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| Clinical, splicing, and functional analysis to classify
<i>BRCA2</i>
exon 3 variants: Application of a points‐based ACMG/AMP approach |
|
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| Mutations in
<i>OOEP</i>
and
<i>NLRP5</i>
identified in infertile patients with early embryonic arrest |
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| Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform |
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| Issue Information |
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| Front Cover, Volume 43, Issue 9 |
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| De novo putative loss‐of‐function variants in
<i>TAF4</i>
are associated with a neuro‐developmental disorder |
|
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| Expanding the phenotypic variability of
<i>MORC2</i>
gene mutations: From Charcot‐Marie‐Tooth disease to late‐onset pure motor neuropathy |
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| Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders |
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| Characterization of a possible founder synonymous variant in
<i>TECTA</i>
in multiple individuals with autosomal recessive hearing loss |
|
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| Biallelic
<i>NLRP7</i>
variants in patients with recurrent hydatidiform mole: A review and expert consensus |
|
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|
| Clinical and pathophysiological delineation of musculocontractural Ehlers—Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS‐
<i>DSE</i>
): A detailed and c |
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| Deep intronic
<i>NIPBL de novo</i>
mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients |
|
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| Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation |
|
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| Multiple mechanisms contribute to the phenotypic effects of synonymous variants |
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| Issue Information |
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| Human Mutation special issue on “Variant Effect Prediction" |
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| Front Cover, Volume 43, Issue 8 |
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| Isolated aneurysmal disease as an underestimated finding in individuals with
<i>JAG1</i>
pathogenic variants |
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| Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form‐associated genes provides new insights for molecular diagnosis and clinical management |
|
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| Mutation update: The spectra of
<i>PLEC</i>
sequence variants and related plectinopathies |
|
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| Biallelic variants in
<i>WARS1</i>
cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function |
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| Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency |
|
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| <i>WARS1</i>
and
<i>SARS1</i>
: Two tRNA synthetases implicated in autosomal recessive microcephaly |
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| A functional platform for the selection of pathogenic variants of
<i>PMM2</i>
amenable to rescue via the use of pharmacological chaperones |
|
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| Rare germline variants in
<i>PALB2</i>
and
<i>BRCA2</i>
in familial and sporadic chordoma |
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| Polarized trafficking and copper transport activity of ATP7B: A mutational approach to establish genotype–phenotype correlation in Wilson disease |
|
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| First splicing variant in
<i>HECW2</i>
with an autosomal recessive pattern of inheritance and associated with NDHSAL |
|
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| <i>CAPN3</i>
c.1746‐20C>G variant is hypomorphic for LGMD R1 calpain 3‐related |
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| The
<i>MAP3K7</i>
gene: Further delineation of clinical characteristics and genotype/phenotype correlations |
|
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| Better and faster is cheaper |
|
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| Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the
<i>NF1</i>
gene |
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| Screening of potential novel candidate genes in schwannomatosis patients |
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| Issue Information |
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| Front Cover, Volume 43, Issue 7 |
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| Back Cover, Volume 43, Issue 7 |
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| The human ATP‐binding cassette (ABC) transporter superfamily |
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| Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes |
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| Benchmarking of univariate pleiotropy detection methods applied to epilepsy |
|
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| De novo truncating
<i>NOVA2</i>
variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes |
|
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| Three novel
<i>FHL1</i>
variants cause a mild phenotype of Emery‐Dreifuss muscular dystrophy |
|
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| MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants |
|
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| DOCKopathies: A systematic review of the clinical pathologies associated with human
<i>DOCK</i>
pathogenic variants |
|
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| Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking |
|
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| Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patients |
|
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| Autosomal dominantly inherited myopathy likely caused by the
<i>TNNT1</i>
variant p.(Asp65Ala) |
|
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| Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum |
|
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| EFEMP1 rare variants cause familial juvenile‐onset open‐angle glaucoma |
|
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| Partial loss‐of‐function variant in neuregulin 1 identified in family with heritable peripheral neuropathy |
|
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| Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis |
|
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| Mutation update: Variants of the
<i>ENPP1</i>
gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma |
|
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| Large scale genotype‐ and phenotype‐driven machine learning in Von Hippel‐Lindau disease |
|
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| Clinical whole‐genome sequencing in cancer diagnosis |
|
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| Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery |
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| The transmission of human mitochondrial DNA in four‐generation pedigrees |
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| uORF‐introducing variants in the 5′UTR of the
<i>NIPBL</i>
gene as a cause of Cornelia de Lange syndrome |
|
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| Cas9‐guided haplotyping of three truncation variants in autosomal recessive disease |
|
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| The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects |
|
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|
| Predictive functional assay‐based classification of PMS2 variants in Lynch syndrome |
|
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| <i>DNAH14</i>
variants are associated with neurodevelopmental disorders |
|
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| Issue Information |
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| Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders |
|
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| The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both
<i>FBN1</i>
and
<i>FBN2</i> |
|
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|
|
| STRipy: A graphical application for enhanced genotyping of pathogenic short tandem repeats in sequencing data |
|
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|
|
| Comparison of the frequency of loss‐of‐function
<i>LZTR1</i>
variants between schwannomatosis patients and the general population |
|
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| Bioinformatics detection of modulators controlling splicing factor‐dependent intron retention in the human brain |
|
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| Effects of 14
<i>F9</i>
synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expression |
|
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| Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease |
|
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| In Memoriam: Haig H. Kazazian, Jr. (1937–2022) |
|
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| Issue Information |
|
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| Phenotypic and mutational spectrum of
<i>ROR2</i>
‐related Robinow syndrome |
|
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|
|
| Re‐evaluation of missense variant classifications in
<i>NF2</i> |
|
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| Pathogenic missense variants altering codon 336 of
<i>GARS1</i>
lead to divergent dominant phenotypes |
|
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|
| Comprehensive variant spectrum of the
<i>CNGA3</i>
gene in patients affected by achromatopsia |
|
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|
| Beacon v2 and Beacon networks: A “lingua franca” for federated data discovery in biomedical genomics, and beyond |
|
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| Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study |
|
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| A homozygous hypomorphic<i>BNIP1</i>variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo‐epiphyseal dysplasia |
|
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|
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|
|
|
| <i>seqr</i>
: A web‐based analysis and collaboration tool for rare disease genomics |
|
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|
|
| Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases |
|
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| An expanded phenotype centric benchmark of variant prioritisation tools |
|
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| An algorithm for optimal testing in co‐segregation analysis |
|
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| ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research |
|
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|
| Estimating the proportion of pathogenic variants from breast cancer case–control data: Application to calibration of ACMG/AMP variant classification criteria |
|
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| Issue Information |
|
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| PatientMatcher: A customizable Python‐based open‐source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network |
|
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|
|
| Cover, Volume 43, Issue 3 |
|
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| Clinical exome sequencing—Mistakes and caveats |
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|
| Variant‐level matching for diagnosis and discovery: Challenges and opportunities |
|
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|
|
| The heterozygous mutations of
<i>SLC26A8</i>
are not the main actors for male infertility |
|
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|
|
| A clinical laboratory's experience using GeneMatcher—Building stronger gene–disease relationships |
|
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|
|
| The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases |
|
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|
|
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|
|
| Novel
<i>CIC</i>
variants identified in individuals with neurodevelopmental phenotypes |
|
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|
|
| Intron mutations and early transcription termination in Duchenne and Becker muscular dystrophy |
|
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|
|
| PhenomeCentral: 7 years of rare disease matchmaking |
|
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|
| Mutation profiling of the c.1521_1523delCTT (p.Phe508del, F508del) cystic fibrosis transmembrane conductance regulator allele using haplotype‐resolved long‐read next generation sequencing |
|
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|
|
| Discovery of over 200 new and expanded genetic conditions using GeneMatcher |
|
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|
| The impact of GeneMatcher on international data sharing and collaboration |
|
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| Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases |
|
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| Machine learning models for accurate prioritization of variants of uncertain significance |
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| Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher |
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| DECIPHER: Supporting the interpretation and sharing of rare disease phenotype‐linked variant data to advance diagnosis and research |
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| Advances in the development of PubCaseFinder, including the new application programming interface and matching algorithm |
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| Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China |
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| Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study |
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| Qatar genome: Insights on genomics from the Middle East |
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| A novel nonsense variant in the NFE2L1 transcription factor in a patient with developmental delay, hypotonia, genital anomalies, and failure to thrive |
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| Identification of a novel homozygous
<i>synthesis of cytochrome c oxidase 2</i>
variant in siblings with early‐onset axonal Charcot‐Marie‐Tooth disease |
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| Issue Information |
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| Cover, Volume 43, Issue 2 |
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| Variant interpretation: UCSC Genome Browser Recommended Track Sets |
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| Recessive variants in
<i>COL25A1</i>
gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder |
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| Detection of revertant mosaicism in epidermolysis bullosa through Cas9‐targeted long‐read sequencing |
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| Delineation of a novel neurodevelopmental syndrome associated with
<i>PAX5</i>
haploinsufficiency |
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| Expanding the phenotypic and molecular spectrum of
<i>NFS1</i>
‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containi |
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| Novel biallelic loss of
<i>EEF1B2</i>
function links to autosomal recessive intellectual disability |
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| Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the
<i>ARR3</i>
gene |
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| Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE‐diagnosis study (IMPRESsion) |
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| Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases |
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| Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficienc |
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| Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development |
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| Functionally impaired
<i>RPL8</i>
variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype |
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| Distinct sequence features underlie microdeletions and gross deletions in the human genome |
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| Novel germline
<i>MET pathogenic variants in French patients with papillary renal cell carcinomas type I</i> |
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