HUMAN MUTATION

Disease‐causing variants of the conserved +2T of 5′ splice sites can be rescued by engineered U1snRNAs

Identification of splice defects due to noncanonical splice site or deep‐intronic variants in ABCA4

Genetic interpretation and clinical translation of minor genes related to Brugada syndrome

Genotype and phenotype variability in Sjögren‐Larsson syndrome

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality

VIPdb, a genetic Variant Impact Predictor Database

Recessive mutations in the neuronal isoforms of DST, encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI

Biallelic variants in DNA2 cause microcephalic primordial dwarfism

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read‐through therapies in cystic fibrosis

Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta

Predicting functional variants in enhancer and promoter elements using RegulomeDB

Genome‐wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome

RECQL5: Another DNA helicase potentially involved in hereditary breast cancer susceptibility

SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants

Screening for rare epigenetic variations in autism and schizophrenia

CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases

Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer

Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype–phenotype correlations

UVEOGENE: An SNP database for investigations on genetic factors associated with uveitis and their relationship with other systemic autoimmune diseases

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations

Functional and cellular localization diversity associated with Fukutin‐related protein patient genetic variants

Comprehensive profiling of BRCA1 and BRCA2 variants in breast and ovarian cancer in Chinese patients

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency

Expression and functional characterization of missense mutations in ATP8A2 linked to severe neurological disorders

A snapshot of some pLI score pitfalls

What went wrong with variant effect predictor performance for the PCM1 challenge

A novel mutation of PANK4 causes autosomal dominant congenital posterior cataract

Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease

Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI‐5 intellectual disability challenge

Multiplex targeted high‐throughput sequencing in a series of 352 patients with congenital limb malformations

Predicting pathogenicity of missense variants with weakly supervised regression

A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy

Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

Heterozygosity mapping for human dominant trait variants

Novel missense mutation in VPS33B is associated with isolated low gamma‐glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome

Novel ACTN1 variants in cases of thrombocytopenia

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

High‐throughput custom capture sequencing identifies novel mutations in coloboma‐associated genes: Mutation in DNA‐binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma

Corrigendum

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish