Wednesday, July 25, 2018

Journal of Human Genetics - Table of Contents alert Volume 63 Issue 8

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Journal of Human Genetics

Volume 63, Issue 8

In this issue
Review Article
Brief Communication
Also new
We are pleased to announce that the Impact Factor* for the Journal of Human Genetics is now 2.952 - an increase of 19.1% from last year. The Journal of Human Genetics is ranked 73 of 171 in the Genetics & Heredity category. The journal would like to thank all our authors, reviewers and readers for their continued support. 

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*2017 Journal Citation Reports (Clarivate Analytics, 2018)


Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism

Marcella Zollino & Paolo Niccolo’ Doronzio

Journal of Human Genetics 2018 63 :859 - 861; June 08, 2018; 10.1038/s10038-018-0476-1


Abstract | Full Text

A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy

Eraldo Fonseca dos Santos-Junior & João Ricardo Mendes de Oliveira

Journal of Human Genetics 2018 63 :863 - 864; June 14, 2018; 10.1038/s10038-018-0475-2


Abstract | Full Text

Review Article

The era of immunogenomics/immunopharmacogenomics

Makda Zewde, Kazuma Kiyotani, Jae-Hyun Park, Hua Fang, Kai Lee Yap et al.

Journal of Human Genetics 2018 63 :865 - 875; May 21, 2018; 10.1038/s10038-018-0468-1


Abstract | Full Text


Characterization and prevalence of two novel CHEK2 large deletions in Greek breast cancer patients

Paraskevi Apostolou, Florentia Fostira, Vasiliki Mollaki, Angeliki Delimitsou, Metaxia Vlassi et al.

Journal of Human Genetics 2018 63 :877 - 886; May 22, 2018; 10.1038/s10038-018-0466-3


Abstract | Full Text

Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome

Natsuki Matsunoshita, Kandai Nozu, Masahide Yoshikane, Azusa Kawaguchi, Naoya Fujita et al.

Journal of Human Genetics 2018 63 :887 - 892; May 30, 2018; 10.1038/s10038-018-0470-7


Abstract | Full Text

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells

Yuichi Kawamura, Akiko Suga, Takuro Fujimaki, Kazutoshi Yoshitake, Kazushige Tsunoda et al.

Journal of Human Genetics 2018 63 :893 - 900; May 14, 2018; 10.1038/s10038-018-0465-4


Abstract | Full Text

Association between the FGFR1 rs13317 single nucleotide polymorphism and orbitale-nasion depth based on cephalometric images

Mohamed Adel, Tetsutaro Yamaguchi, Daisuke Tomita, Yong-Il Kim, Masahiro Takahashi et al.

Journal of Human Genetics 2018 63 :901 - 909; June 05, 2018; 10.1038/s10038-018-0471-6


Abstract | Full Text

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea

Dahye Kim, Jung Min Ko, Yoon-myung Kim, Go Hun Seo, Gu-Hwan Kim et al.

Journal of Human Genetics 2018 63 :911 - 917; May 17, 2018; 10.1038/s10038-018-0467-2


Abstract | Full Text

Brief Communication

De novo nonsense mutation in WHSC1 (NSD2) in patient with intellectual disability and dysmorphic features

Ekaterina R. Lozier, Fedor A. Konovalov, Ilya V. Kanivets, Denis V. Pyankov, Philip A. Koshkin et al.

Journal of Human Genetics 2018 63 :919 - 922; May 14, 2018; 10.1038/s10038-018-0464-5


Abstract | Full Text

A novel frameshift deletion in PLS3 causing severe primary osteoporosis

Alice Costantini, Panagiotis Ν. Krallis, Anders Kämpe, Emmanouil M. Karavitakis, Fulya Taylan et al.

Journal of Human Genetics 2018 63 :923 - 926; June 08, 2018; 10.1038/s10038-018-0472-5


Abstract | Full Text

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Aneek Das Bhowmik, Siddaramappa J. Patil, Dipti Vijayrao Deshpande, Venkatraman Bhat & Ashwin Dalal

Journal of Human Genetics 2018 63 :927 - 933; May 07, 2018; 10.1038/s10038-018-0463-6


Abstract | Full Text

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas & Katta M Girisha

Journal of Human Genetics 2018 63 :935 - 939; April 25, 2018; 10.1038/s10038-018-0462-7


Abstract | Full Text

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