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Journal of Human Genetics|October 11, 2020
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophyMasamune Sakamoto, Kazuhiro Iwama, Futoshi Sekiguchi, et al.Journal of Human Genetics|October 11, 2020
DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6AAkane Terasaki, Masayuki Nakamura, Yuka Urata, et al.Journal of Human Genetics|October 3, 2020
Deep neural network improves the estimation of polygenic risk scores for breast cancerAdrien Badré, Li Zhang, Wellington Muchero, et al.Journal of Human Genetics|October 10, 2020
Incidence of contralateral and ipsilateral breast cancers and prognosis in BRCA1/2 pathogenic variant carriers based on the Japanese HBOC Consortium registrationAkiyo Yoshimura, Shiro Yokoyama, Hiroji Iwata, et al.Journal of Human Genetics|January 18, 2019
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutationsYi Liu, Lulu Kang, Dongxiao Li, et al.Journal of Human Genetics|December 13, 2019
A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated familiesLeigh A M Demain, Erica H Gerkes, Richard J H Smith, et al.Journal of Human Genetics|December 13, 2019
Exome sequencing identifies de novo splicing variant in XRCC6 in sporadic case of autismCalvin P Sjaarda, Shalandra Wood, Amy J M McNaughton, et al.Journal of Human Genetics|November 1, 2019
Visualization tools for human structural variations identified by whole-genome sequencingToshiyuki T Yokoyama, Masahiro KasaharaJournal of Human Genetics|February 15, 2019
A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencingTakeshi Mizuguchi, Takeshi Suzuki, Chihiro Abe, et al.Journal of Human Genetics|November 24, 2020
Genome-wide association study of individual differences of human lymphocyte profiles using large-scale cytometry dataDaigo Okada, Naotoshi Nakamura, Kazuya Setoh, et al.Pageof 351