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Journal of Human Genetics|July 13, 2020
Paleolithic genetic link between Southern China and Mainland Southeast Asia revealed by ancient mitochondrial genomesFan Bai, Xinglong Zhang, Xueping Ji, et al.Journal of Human Genetics|July 15, 2020
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in JapanMio Tsuchiya, Takahiro Yamada, Rina Akaishi, et al.Journal of Human Genetics|August 9, 2020
METAP1 mutation is a novel candidate for autosomal recessive intellectual disabilityAhmet Okay Caglayan, Fesih Aktar, Kaya Bilguvar, et al.Journal of Human Genetics|August 8, 2020
Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levelsJenna C Carlson, Daniel E Weeks, Nicola L Hawley, et al.Journal of Human Genetics|August 8, 2020
New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicinHamoud Alhebbi, Abdul Ali Peer-Zada, Abdulrahman A Al-Hussaini, et al.Journal of Human Genetics|August 12, 2020
Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent claviclesEsra Yıldız Bölükbaşı, Rana Muhammad Kamran Shabbir, Sajid Malik, et al.Journal of Human Genetics|August 2, 2020
Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphismQandeel Zahra, Çağla Çakmak, Mine Koprulu, et al.Journal of Human Genetics|July 14, 2020
ALG3-CDG: lethal phenotype and novel variants in Chinese siblingsYue Bian, Chong Qiao, ShuGuang Zheng, et al.Journal of Human Genetics|July 14, 2020
Two novel TCTN2 mutations cause Meckel-Gruber syndromeManli Zhang, Zhijie Chang, Yaping Tian, et al.Journal of Human Genetics|August 10, 2020
Polygenic risk score as clinical utility in psychiatry: a clinical viewpointMasashi Ikeda, Takeo Saito, Tetsufumi Kanazawa, et al.Pageof 353