Cover Image, Volume 39, Issue 4
Issue Information
MPV17‐related mitochondrial DNA maintenance defect : New cases and review of clinical, biochemical, and molecular aspects
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish
Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules
Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene
Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion
Genetic contribution of retinoid‐related genes to neural tube defects
Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease
Somatic mutations activating Wiskott–Aldrich syndrome protein concomitant with RAS pathway mutations in juvenile myelomonocytic leukemia patients