Human Mutation

CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

Genome Sequencing of Idiopathic Speech Delay

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin

Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion

Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs41) by Whole-Exome Sequencing in Patients with Crohn’s Disease

COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

Functional Analysis of UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

Human Mutation

Table of Contents

Table of Contents

CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation

The Association of Heterozygous p.R4810K of RNF213 and Long-Term Unfavorable Outcomes after Encephaloduroarteriosynangiosis in Chinese Pediatric Patients with Moyamoya Disease

Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing

Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments

RNA Panel Sequencing Is an Effective Tool to Help Classify Splice Variants for Clinical Oncogenetic Diagnosis

Genome Sequencing of Idiopathic Speech Delay

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin

Whole-Exome Sequencing Analysis Identifies Risk Genes in Atlantoaxial Dislocation Patients with Sandwich Fusion

Identification of a Novel NLRP12 Frameshift Mutation (Val730Glyfs41) by Whole-Exome Sequencing in Patients with Crohn’s Disease

COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese Patient

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

Functional Analysis of UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element