logo
CanyamAI summaries for academic research
language
MobileMobile
  • Phone FeatureWeChat Mini Program
EnglishEnglish
noticeNotice
BlogBlog
delete
arrow
BackJournal Details
Journal of Human Genetics cover

Journal of Human Genetics

IF2.5
Papers216
Citations4879
Journal Papers 206
Publication Date
delete
Genotype–phenotype variability in TRMT10A deficiency: divergent developmental outcomes associated with biallelic loss-of-function variants
deleteJournal of Human Genetics
IF2.5
delete2026-10-08
delete0
PREAI
deleteZeynep Esener; Dilan Genç-Akdağ; Canberk Toprak; Merve Saltık; Burak Esener; Büşra Yeninarcılar; İbrahim Tekedereli
deleteShare
deleteSave
Integrated genetic and epigenetic diagnosis of facioscapulohumeral muscular dystrophy using Oxford Nanopore long-read sequencing
deleteJournal of Human Genetics
IF2.5
delete2026-10-05
delete0
PREAI
deleteXinrong Xu; Liangliang Qiu; Minghui Zeng; Qifang He; Xiaodan Lin; Yuhua Lin; Xinyue Chen; Fuze Zheng; Zeling Zheng; Shuhui Zhu; Yali Hong; Feng Lin; Ning Wang; Minting Lin; Zhiqiang Wang
deleteShare
deleteSave
MC1R variants in four Chinese children with red hair and hypopigmentation
deleteJournal of Human Genetics
IF2.5
delete2026-09-30
delete0
PREAI
deleteYingzi Zhang; Qiaorong Huang; Xiaojing Chen; Xuyun Hu; Aihua Wei
deleteShare
deleteSave
Uptake of cascade testing and the factors affecting its implementation among patients in Japan with Lynch syndrome
deleteJournal of Human Genetics
IF2.5
delete2026-09-29
delete0
PREAI
deleteYoshimi Kiyozumi; Hiroyuki Matsubayashi; Nobuhiro Kado; Seiichiro Nishimura; Satomi Higashigawa; Eiko Ishihara; Rina Harada; Yasue Horiuchi
deleteShare
deleteSave
Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
PREAI
deleteFatemeh Ghermezcheshmeh; Nazila Malekian; Aida Ghasemi; Fatemeh Barshooi; Shahriar Nafissi; Afagh Alavi
deleteShare
deleteSave
Which R2 should be used to benchmark polygenic score performance against heritability?
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
PREAI
deleteCiaran Michael Kelly
deleteShare
deleteSave
Riddle syndrome with RNF168 mutation in first Asian family cluster exhibiting pulmonary fibrosis and achalasia
deleteJournal of Human Genetics
IF2.5
delete2026-09-28
delete0
deleteOAAI
deleteTing-Wei Kao; Jung-Yien Chien; Jo-Yu Chen; Feng-Jung Yang
deleteShare
deleteSave
Characterising the motif composition and allele length distribution of ZFHX3 GGC repeat expansions in amyotrophic lateral sclerosis
deleteJournal of Human Genetics
IF2.5
delete2026-09-15
delete0
deleteOAAI
deleteZoe N. Zussa; Andrew N. Smith; Joke J.F.A van Vugt; Daniel S. O’Shaughnessy; Natalie Grima; Sandrine Chan Moi Fat; Ian P. Blair; Dominic B. Rowe; Roger Pamphlett; Garth A. Nicholson; Matthew C. Kiernan; Wouter van Rheenen; Jan Veldink; Kelly L. Williams; Lyndal Henden
deleteShare
deleteSave
Novel SLC6A9 variants in an adult presenting with GlyT1 encephalopathy
deleteJournal of Human Genetics
IF2.5
delete2026-09-11
delete0
deleteOAAI
deleteMark Mencias; Meneka Kanagaratnam; Emma Matthews
deleteShare
deleteSave
Non-coding repeat expansions within NOTCH2NLC and RFC1 genes contribute to unsolved inherited peripheral neuropathies
deleteJournal of Human Genetics
IF2.5
delete2026-09-10
delete0
PREAI
deleteXin-Yun Zhang; Hao Yu; Gong-Lu Liu; Zhi-Ying Wu; Hai-Lin Dong
deleteShare
deleteSave
Osteoporosis genetic risk prediction using bone mineral density polygenic scores in Japanese: TMM CommCohort study
deleteJournal of Human Genetics
IF2.5
delete2026-09-09
delete0
PREAI
deleteYayoi Otsuka-Yamasaki; Yoichi Sutoh; Tsuyoshi Hachiya; Motoki Nakao; Shiori Minabe; Shohei Komaki; Hideki Ohmomo; Makoto Sasaki; Atsushi Shimizu
deleteShare
deleteSave
Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort
deleteJournal of Human Genetics
IF2.5
delete2026-09-08
delete0
PREAI
deleteÇağrı Doğan; Alper Gezdirici; Hatice Özışık; Samim Özen; Ayça Aykut; Asude Durmaz; Elif Yılmaz Güleç; Mukaddes Feyza Baltacı; Eyyüp Üçtepe; Serdar Ceylaner; Mustafa Tarık Alay; İrem Kalay; Kübra Ateş; Mehmet Burak Mutlu
deleteShare
deleteSave
Biallelic nonsense variants in GAS8 associated with asthenoteratozoospermia and PCD-like symptoms
deleteJournal of Human Genetics
IF2.5
delete2026-09-04
delete0
PREAI
deleteMingjia Zhao; Shuyu Guo; Lanxi Ran; Yue Meng; Yijia Zhao; Jing Wang; Binbin Wang
deleteShare
deleteSave
Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome
deleteJournal of Human Genetics
IF2.5
delete2026-09-04
delete0
deleteOAAI
deleteZ. Kowalzyk; J. Porrmann; P.Y.B. Au; S. Choufani; R. Weksberg; K. Hackmann; A. Kübler; A. Kögler; N. S. Lewis; A. Köhler; J. Wagner; M. Bermudez; C. Hübner; J. Schallner; R. Jauss; C. Vogelberg; B. Mayer; N. Di Donato; E. Schröck; D. Le Duc; A. Jahn
deleteShare
deleteSave
THE1 repeats: Ancient endogenous retroviruses rampaging behind sarcoid myopathy
deleteJournal of Human Genetics
IF2.5
delete2026-09-03
delete0
PREAI
deleteAritoshi Iida; Shunsuke Funaguma; Ichizo Nishino
deleteShare
deleteSave
Cross-biobank comparison of ASCVD heritability and genetic correlation
deleteJournal of Human Genetics
IF2.5
delete2026-08-28
delete0
deleteOAAI
deleteHari B. Acharya; Samuel S. Gidding; Matthew T. Oetjens; Alexander S. F. Berry
deleteShare
deleteSave
Systematic genotype–phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22–q23 deletions
deleteJournal of Human Genetics
IF2.5
delete2026-08-27
delete0
PREAI
deleteKengo Kora; Takeshi Yoshida; Atsuko Ikegawa; Kiyohiro Kim; Shu Hamada; Toshiro Maihara; Takahito Wada
deleteShare
deleteSave
Identification and characterisation of a novel homozygous KDM5A variant associated with severe axial hypotonia, seizures, and cardiac anomalies
deleteJournal of Human Genetics
IF2.5
delete2026-08-19
delete0
deleteOAAI
deleteSerdar Bozlak; Cuneyd Yavas; Yusuf Seflekci; Tunay Dogan; Yunus Emre Arvas
deleteShare
deleteSave
Clinical features of four unrelated Japanese patients with autosomal recessive spinocerebellar ataxia type 32
deleteJournal of Human Genetics
IF2.5
delete2026-08-18
delete0
PREAI
deleteHiromi Fukuda; Hiroshi Doi; Shunsuke Ogata; Eriko Koshimizu; Kohei Hamanaka; Satoko Miyatake; Yuichi Higashiyama; Yosuke Kudo; Rumiko Kato; Takamasa Nukui; Kazuki Yamada; Shinichi Shirai; Ichiro Yabe; Naomichi Matsumoto; Fumiaki Tanaka
deleteShare
deleteSave
Clinical significance of miRNAs and exosomal miRNAs in non-small cell lung cancer: diagnostic, prognostic, and therapeutic perspectives
deleteJournal of Human Genetics
IF2.5
delete2026-08-18
delete0
PREAI
deleteImteyaz Ahmad Khan; Surabhi Gupta; Jagdish Prasad Meena
deleteShare
deleteSave