| An Update on Reported Variants in the Skeletal Muscle <i>α</i>‐Actin (<i>ACTA1</i>) Gene |
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| Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease |
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| Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review |
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| Exonic Deletions and Deep Intronic Variants of the <i>SLC26A4</i> Gene Contribute to the Genetic Diagnosis of Unsolved Patients With Enlarged Vestibular Aqueduct |
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Chinese |
| Clinical, Pathologic, and Genetic Spectrum of Collagen VI–Related Disorder in China—A Retrospective Observational Multicenter Study |
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| Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG |
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| Phenotype Correlations With Pathogenic DNA Variants in the <i>MUTYH</i> Gene: A Review of Over 2000 Cases |
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| Long‐Read Sequencing Identified a <i>PKD1</i> Gene Conversion in ADPKD Rather Than the False‐Positive Exon Deletion Indicated by WES and MLPA |
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| Constitutional <i>BRCA1</i> Epimutations: A Key for Understanding Basal‐Like Breast and High‐Grade Serous Ovarian Cancer |
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| Clinical and Genetic Characteristics of Two Cases With Developmental and Epileptic Encephalopathy 93 Caused by Novel ATP6V1A Mutations and Literature Review |
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| Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases |
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| Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus |
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non-Finnish European; East Asian; admixed American populations |
| Novel Pathogenic Variants in <i>POLR3K</i> Cause POLR3‐Related Leukodystrophy |
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| Application of Targeted Y‐Chromosomal Capture Enrichment to Increase the Resolution of Native American Haplogroup Q |
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| Homozygous <i>HOXC13</i> Variant Causes Pure Hair and Nail Ectodermal Dysplasia via Reduction in Protein Stability |
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| <i>Pi*S</i> and <i>Pi*Z</i> Alleles of <i>SERPINA1</i> Gene Are Associated With Specific Variants of a BRD4‐Independent Enhancer |
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| Biallelic Recessive Mutations in <i>TLE6</i> and <i>NLRP5</i> Cause Female Infertility Characterized by Human Early Embryonic Arrest |
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| Characterization and Engineered U1 snRNA Rescue of Splicing Variants in a Turkish Neurodevelopmental Disease Cohort |
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Turkish |
| Treatability of the KMT2-Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide-Based Treatments |
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| Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 |
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| Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based Cases |
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| CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation |
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| The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease |
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Chinese |
| Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing |
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| Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments |
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| RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis |
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| Genome Sequencing of Idiopathic Speech Delay |
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| Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency |
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| Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin |
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"Kashubs, a minority West-Slavic ethnic group"; "Kashubian-only"; "ancestry-specific Kashubian patho |
| Whole‐Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion |
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| Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs<a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"><a:msup><a:mrow/><a:mrow><a:mo>∗</a:mo></a:mrow></a:msup></a:math>41) by W |
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| The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study |
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| COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient |
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Han Chinese; Chinese |
| Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa |
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Finnish |
| Functional Analysis of <a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"><a:msup><a:mrow><a:mn>3</a:mn></a:mrow><a:mrow><a:mo>′</a:mo></a:mrow></a:msup></a:math>UTR Variants at the LDLR and |
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| A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element |
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| Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3) |
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| Disruption of OVOL2 Distal Regulatory Elements as a Possible Mechanism Implicated in Corneal Endothelial Dystrophy |
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