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Journal of Human Genetics


Volume 62, Issue 8 (August 2017)

In this issue
Original Articles
Short Communication

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Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Luigi D Notarangelo

J Hum Genet 2017 62: 737-738; advance online publication, April 27, 2017; 10.1038/jhg.2017.47

Full Text

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Tadashi Kaname and Kumiko Yanagi

J Hum Genet 2017 62: 739-740; advance online publication, June 1, 2017; 10.1038/jhg.2017.58

Full Text

Original Articles


ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu and Naomichi Matsumoto

J Hum Genet 2017 62: 741-746; advance online publication, March 2, 2017; 10.1038/jhg.2017.24

Abstract | Full Text

Genetic origin of α0-thalassemia (SEA deletion) in Southeast Asian populations and application to accurate prenatal diagnosis of Hb Bart’s hydrops fetalis syndrome

Wittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Patnaree Charoenwijitkul, Jitpanu Maneesarn, Xiangmin Xu and Supan Fucharoen

J Hum Genet 2017 62: 747-754; advance online publication, April 6, 2017; 10.1038/jhg.2017.41

Abstract | Full Text

Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

Eleonore Bertko, Jürgen Klammt, Petra Dusatkova, Mithat Bahceci, Nazli Gonc, Louise ten Have, Nurgun Kandemir, Georg Mansmann, Barbora Obermannova, Wilma Oostdijk, Heike Pfäffle, Denise Rockstroh-Lippold, Marina Schlicke, Alpaslan Kemal Tuzcu and Roland Pfäffle

J Hum Genet 2017 62: 755-762; advance online publication, March 30, 2017; 10.1038/jhg.2017.34

Abstract | Full Text

Successful newborn screening for Gaucher disease using fluorometric assay in China

Lulu Kang, Xia Zhan, Xuefan Gu and Huiwen Zhang

J Hum Genet 2017 62: 763-768; advance online publication, March 30, 2017; 10.1038/jhg.2017.36

Abstract | Full Text

TFAP2B mutation and dental anomalies

Natchaya Tanasubsinn, Rekwan Sittiwangkul, Yupada Pongprot, Katsushige Kawasaki, Atsushi Ohazama, Thanapat Sastraruji, Massupa Kaewgahya and Piranit Nik Kantaputra

J Hum Genet 2017 62: 769-775; advance online publication, April 6, 2017; 10.1038/jhg.2017.37

Abstract | Full Text

An adaptive strategy for association analysis of common or rare variants using entropy theory

Yu-Mei Li, Chao Xu, Yang Xiang, Cheng Peng and Hong-Wen Deng

J Hum Genet 2017 62: 777-781; advance online publication, April 6, 2017; 10.1038/jhg.2017.39

Abstract | Full Text

The genomic dynamics during progression of lung adenocarcinomas

Bin Yang, Longhai Luo, Wen Luo, Yong Zhou, Chao Yang, Teng Xiong, Xiangchun Li, Xuan Meng, Lin Li, Xiaopin Zhang, Zhe Wang and Zhixin Wang

J Hum Genet 2017 62: 783-788; advance online publication, April 6, 2017; 10.1038/jhg.2017.40

Abstract | Full Text

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

Elena A Bliznetz, Maria R Lalayants, Tatiana G Markova, Oleg P Balanovsky, Elena V Balanovska, Roza A Skhalyakho, Elvira A Pocheshkhova, Natalya V Nikitina, Sergey V Voronin, Elena K Kudryashova, Oleg S Glotov and Alexander V Polyakov

J Hum Genet 2017 62: 789-795; advance online publication, April 13, 2017; 10.1038/jhg.2017.42

Abstract | Full Text

Short Communication


Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura and Shiro Ikegawa

J Hum Genet 2017 62: 797-801; advance online publication, March 23, 2017; 10.1038/jhg.2017.38

Abstract | Full Text


November 2-3, 2017 | Hanover, Germany

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