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

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TABLE OF CONTENTS Volume 63, Issue 8 In this issue Comment Review Article Article Brief Communication Also new AOP   Advertisement 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.  Submit your research >>>  *2017 Journal Citation Reports (Clarivate Analytics, 2018)   Comment 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 Article 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 Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. 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