Monday, August 27, 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 9

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Journal of Human Genetics

Volume 63, Issue 9

In this issue
Brief Communication
Also new


Nearing saturation of cancer driver gene discovery

David Hsiehchen & Antony Hsieh

Journal of Human Genetics 2018 63 :941 - 943; June 15, 2018; 10.1038/s10038-018-0481-4


Abstract | Full Text


Robust imaging and gene delivery to study human lymphoblastoid cell lines

Lachlan A. Jolly, Ying Sun, Renée Carroll, Claire C. Homan & Jozef Gecz

Journal of Human Genetics 2018 63 :945 - 955; June 20, 2018; 10.1038/s10038-018-0483-2


Abstract | Full Text

A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome

Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando et al.

Journal of Human Genetics 2018 63 :957 - 963; June 15, 2018; 10.1038/s10038-018-0482-3


Abstract | Full Text

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome

Robbert-Jan C. A. M. Gielen, Marieke G. H. C. Reinders, Hannele K. Koillinen, Aimée D. C. Paulussen, Klara Mosterd et al.

Journal of Human Genetics 2018 63 :965 - 969; June 21, 2018; 10.1038/s10038-018-0485-0


Abstract | Full Text

The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy

Xiaomeng Yin, Beisha Tang, Xiao Mao, Jinxin Peng, Sheng Zeng et al.

Journal of Human Genetics 2018 63 :971 - 980; June 18, 2018; 10.1038/s10038-018-0478-z


Abstract | Full Text

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37

Joana Rocha Loureiro, Cláudia Louro Oliveira, Jorge Sequeiros & Isabel Silveira

Journal of Human Genetics 2018 63 :981 - 987; June 11, 2018; 10.1038/s10038-018-0474-3


Abstract | Full Text

Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy

Takeharu Hayashi, Kousuke Tanimoto, Kayoko Hirayama-Yamada, Etsuko Tsuda, Mamoru Ayusawa et al.

Journal of Human Genetics 2018 63 :989 - 996; June 15, 2018; 10.1038/s10038-018-0479-y


Abstract | Full Text

Brief Communication

A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay

Joanne Trinh, Irina Hüning, Zafer Yüksel, Nadja Baalmann, Sophie Imhoff et al.

Journal of Human Genetics 2018 63 :997 - 1001; June 13, 2018; 10.1038/s10038-018-0469-0


Abstract | Full Text

Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification

Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Rahşan Göçmen, Zheng Wang et al.

Journal of Human Genetics 2018 63 :1003 - 1007; June 08, 2018; 10.1038/s10038-018-0473-4


Abstract | Full Text

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

Kishin Koh, Hiroyuki Ishiura, Minako Beppu, Haruo Shimazaki, Yuta Ichinose et al.

Journal of Human Genetics 2018 63 :1009 - 1013; June 18, 2018; 10.1038/s10038-018-0477-0


Abstract | Full Text

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