Πέμπτη 25 Ιουλίου 2019

Inferring the history of surname Ye based on Y chromosome high-resolution genotyping and sequencing data

Zhen Zeng, Jiaoyang Tian, Chuangui Jiang, Weijian Ye, Kaijun Liu et al. 
Journal of Human Genetics 2019 64 :703 - 709; May 15, 2019; 10.1038/s10038-019-0616-2

Clinical and genetic analysis of patients with primary ciliary dyskinesia caused by novel DNAAF3 mutations

Zhuoyao Guo, Weicheng Chen, Jianfeng Huang, Libo Wang & Liling Qian 
Journal of Human Genetics 2019 64 :711 - 719; June 12, 2019; 10.1038/s10038-019-0609-1

The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers

Giulia Pascolini, Nicole Fleischer, Alessandro Ferraris, Silvia Majore & Paola Grammatico 
Journal of Human Genetics 2019 64 :721 - 728; May 13, 2019; 10.1038/s10038-019-0598-0

Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient

Kiyoshi Yamaguchi, Eigo Shimizu, Rui Yamaguchi, Seiya Imoto, Mitsuhiro Komura et al. 
Journal of Human Genetics 2019 64 :729 - 740; May 14, 2019; 10.1038/s10038-019-0611-7

Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients

Ken Momosaki, Jun Kido, Shinichiro Yoshida, Keishin Sugawara, Tatsuki Miyamoto et al. 
Journal of Human Genetics 2019 64 :741 - 755; May 10, 2019; 10.1038/s10038-019-0603-7

MicroRNAs profiling in fibroblasts derived from patients with Gorlin syndrome

Tadashi Shiohama, Katsunori Fujii, Toshiyuki Miyashita, Tomozumi Takatani, Hajime Ikehara et al. 
Journal of Human Genetics 2019 64 :757 - 765; May 14, 2019; 10.1038/s10038-019-0607-3

PALB2 c.2257C>T truncating variant is a Greek founder and is associated with high breast cancer risk

Andromachi Vagena, Myrto Papamentzelopoulou, Despoina Kalfakakou, Panagoula Kollia, Christos Papadimitriou et al. 
Journal of Human Genetics 2019 64 :767 - 773; May 14, 2019; 10.1038/s10038-019-0612-6

Relating Clans Ao and Aisin Gioro from northeast China by whole Y-chromosome sequencing

Chi-Zao Wang, Lan-Hai Wei, Ling-Xiang Wang, Shao-Qing Wen, Xue-Er Yu et al. 
Journal of Human Genetics 2019 64 :775 - 780; May 31, 2019; 10.1038/s10038-019-0622-4

A statistical approach to fine-mapping for the identification of potential causal variants related to human intelligence

Yun Gong, Jonathan Greenbaum & Hong-Wen Deng 
Journal of Human Genetics 2019 64 :781 - 787; June 05, 2019; 10.1038/s10038-019-0623-3

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan

Hiroyuki Mishima, Hisato Suzuki, Michiko Doi, Mutsuko Miyazaki, Satoshi Watanabe et al.
Journal of Human Genetics 2019 64 :789 - 794; May 29, 2019; 10.1038/s10038-019-0619-z

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

Tay Zar Kyaw, Seiji Yamaguchi, Chihiro Imai, Marina Uematsu & Noriko Sato 
Journal of Human Genetics 2019 64 :795 - 801; May 29, 2019; 10.1038/s10038-019-0621-5

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Hormos Salimi Dafsari, Rosanne Sprute, Gilbert Wunderlich, Hülya-Sevcan Daimagüler, Ezgi Karaca et al. 
Journal of Human Genetics 2019 64 :803 - 813; June 05, 2019; 10.1038/s10038-019-0625-1

BRIEF COMMUNICATION

Molecular genealogy of Tusi Lu’s family reveals their paternal relationship with Jochi, Genghis Khan’s eldest son

Shao-Qing Wen, Hong-Bing Yao, Pan-Xin Du, Lan-Hai Wei, Xin-Zhu Tong et al. 
Journal of Human Genetics 2019 64 :815 - 820; June 05, 2019; 10.1038/s10038-019-0618-0

A novel de novo frameshift variant in SETD1B causes epilepsy

Kouhei Den, Mitsuhiro Kato, Tokito Yamaguchi, Satoko Miyatake, Atsushi Takata et al. 
Journal of Human Genetics 2019 64 :821 - 827; May 20, 2019; 10.1038/s10038-019-0617-1

CORRECTION

Correction: Whole-exome sequencing identifies a novel CCDC151 mutation, c.325GT (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus

Weizhi Zhang, Dongping Li, Shijie Wei, Ting Guo, Jian Wang et al. 
Journal of Human Genetics 2019 64 :829 - 829; June 10, 2019; 10.1038/s10038-019-0624-2

Author Correction: Genotypic variability-based genome-wide association study identifies non-additive loci HLA-C and IL12B for psoriasis

Wen-Hua Wei, Jonathan Massey, Jane Worthington, Anne Barton & Richard B. Warren 
Journal of Human Genetics 2019 64 :831 - 831; May 23, 2019; 10.1038/s10038-019-0605-5

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