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Journal of Human Genetics|January 8, 2020
Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delayXiujuan Wei, Miaomiao Du, Jie Xie, et al.Journal of Human Genetics|March 24, 2020
IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutationsMingxing Tang, Yajian Wang, Yuanyuan Xu, et al.Journal of Human Genetics|October 27, 2020
Association of an IGHV3-66 gene variant with Kawasaki diseaseTodd A Johnson, Yoichi Mashimo, Jer-Yuarn Wu, et al.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.Pageof 353