Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1 Laurence PacotValerie PelletierDominique Vidaud Original Investigation 09 August 2022 Pages: 1 - 9
Hemizygosity can reveal variant pathogenicity on the X-chromosome Timothy H. CiesielskiJacquelaine BartlettScott M. Williams Original Investigation 22 August 2022 Pages: 11 - 19
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis Andrew T. TimberlakeEmre KiziltugRichard P. Lifton Original Investigation 23 August 2022 Pages: 21 - 32
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss Jiale XiangXiangzhong SunZhiyu Peng Original Investigation 01 September 2022 Pages: 33 - 43
Comprehensive analysis of microsatellite polymorphisms in human populations Leo GochiYosuke KawaiAkihiro Fujimoto Original Investigation 01 September 2022 Pages: 45 - 57
RNA-seq analysis, targeted long-read sequencing and in silico prediction to unravel pathogenic intronic events and complicated splicing abnormalities in dystrophinopathy Mariko OkuboSatoru NoguchiIchizo Nishino Original Investigation 01 September 2022 Pages: 59 - 71
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes–Brocks syndrome 2 Anne ChristiansEsra KesdirenRuthild G. Weber Original Investigation Open access 06 September 2022 Pages: 73 - 88
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation Zhenlei LiuHuakang DuNan Wu Original Investigation 13 September 2022 Pages: 89 - 101
Truncation mutations in MYRF underlie primary angle closure glaucoma Jiamin OuyangWenmin SunQingjiong Zhang Original Investigation 21 September 2022 Pages: 103 - 123
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy Myriam VezainChristel Thauvin-RobinetPascale Saugier-Veber Original Investigation 23 September 2022 Pages: 125 - 138
PMEL is mutated in oculocutaneous albinism Lama AlAbdiMuneera AlshammariFowzan S. Alkuraya Original Article 27 September 2022 Pages: 139 - 144
Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity Arwin RalfDiego Montiel GonzálezManfred Kayser Original Investigation Open access 03 October 2022 Pages: 145 - 160