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Journal of Human Genetics|November 29, 2023
A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalitiesMasamune Sakamoto, Kenji Kurosawa, Koji Tanoue, et al.Journal of Human Genetics|November 28, 2023
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1CMaha S Zaki, Sherif F Abdel-Ghafar, Mohamed S Abdel-HamidJournal of Human Genetics|February 8, 2024
A splice acceptor variant in RGS6 associated with intellectual disability, microcephaly, and cataracts disproportionately promotes expression of a subset of RGS6 isoformsK E Ahlers-Dannen, J Yang, M M Spicer, et al.Journal of Human Genetics|January 15, 2024
Genotype imputation methods for whole and complex genomic regions utilizing deep learning technologyTatsuhiko Naito, Yukinori OkadaJournal of Human Genetics|March 8, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseasesJessica Zucco, Federica Baldan, Lorenzo Allegri, et al.Journal of Human Genetics|February 29, 2024
Dyssegmental dysplasia Rolland-Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patientsPaniz Farshadyeganeh, Takahiro Yamada, Hirofumi Ohashi, et al.Journal of Human Genetics|February 27, 2024
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart diseaseTadashi Inoue, Ryuta Takase, Keiko Uchida, et al.Journal of Human Genetics|February 15, 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individualsFrancisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, et al.Journal of Human Genetics|February 13, 2024
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese populationHisao Yaoita, Eiichiro Kawai, Jun Takayama, et al.Journal of Human Genetics|August 24, 2023
Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targetsMia Yang Ang, Fumihiko Takeuchi, Norihiro KatoPageof 351