human mutation | Journament

Journal Ranking

#3529 / 33,968
📉 Poor
Overall Score
39.5/100
Score Breakdown
Engagement
31
Accessibility
35
Timeliness
50
Diversity
30
Innovation
40
Community Impact
33
Ethics & Transparency
0
Content Quality
0
Editorial Diversity
0
Publication Regularity
0
Geographic Reach
0
Updated 2 weeks ago

human mutation

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Indexings
scopus ncbi ulakbim sci
Short Name hum mutat
Abbreviated Name hum mutat
ISSN 1098-1004
Aim and Scope
URL http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004
Author Instructions

Publications Per Year

Recent Articles (26 total)

2019
The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders.
Sasorith, Souphatta;Baux, David;Bergougnoux, Anne;Paulet, Damien;Lahure, Alan;Bareil, Corinne;Taulan-Cadars, Magali;Roux, Anne-Françoise;Koenig, Michel;Claustres, Mireille;Raynal, Caroline;
343 views DOI Abstract
2019
Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome.
Hijazi, Hadia;Coelho, Fernanda S;Gonzaga-Jauregui, Claudia;Bernardini, Laura;Mar, Soe S;Manning, Melanie A;Hanson-Kahn, Andrea;Naidu, SakkuBai;Srivastava, Siddharth;Lee, Jennifer A;Jones, Julie R;Friez, Michael J;Alberico, Thomas;Torres, Barbara;Fang, Ping;Cheung, Sau Wai;Song, Xiaofei;Davis-Williams, Angelique;Jornlin, Carly;Wight, Patricia A;Patyal, Pankaj;Taube, Jennifer;Poretti, Andrea;Inoue, Ken;Zhang, Feng;Pehlivan, Davut;Carvalho, Claudia M B;Hobson, Grace M;Lupski, James R;
328 views DOI Abstract
2019
Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017.
Liu, Zhidai;Yu, Chaowen;Li, Qingge;Cai, Ren;Qu, Yiping;Wang, Weipeng;Wang, Jie;Feng, Jinwen;Zhu, Wenbin;Ou, Mingcai;Huang, Weitong;Tang, Deguo;Guo, Wei;Liu, Fangjie;Chen, Yanhua;Fu, Lifang;Zhou, Yanxia;Lv, Wenqiong;Zhang, Hang;Zhang, Juan;Wang, Ming;Yang, Jing;Wan, Kexing;Miao, Jingkun;Yuan, Zhaojian;Liu, Hao;He, Xiaoyan;Li, Wenjie;Chen, Wengao;Ye, Lixin;Chen, Yajun;Huang, Shuodan;Liu, Haiping;Ding, Hongxiang;Gan, Xinhui;Wang, Shuyuan;Qiang, Rong;Gong, Minhong;Teng, Ping;Wang, Hua;Zhou, Muping;Wei, Hongwei;Liu, Xiangju;Tang, Kai;Ma, Yahong;Wu, Hongliang;Shu, Xiaoli;Chen, Yizhen;Zhuang, Danyan;Li, Hui;Liu, Zhi;Liu, Xiulian;Chen, Yao;Zhu, Lidan;Zhu, Xiaoyan;Mo, Caihong;Tang, Hua;Yin, Feng;Shao, Zhibing;Zhang, Penghui;Peng, Bin;Lu, Qing;Wang, Zhiguo;Zou, Lin;
306 views DOI Abstract
2019
De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases.
Li, Jia;Zhang, Jin;Tang, Weiting;Mizu, Ruth K;Kusumoto, Hirofumi;XiangWei, Wenshu;Xu, Yuchen;Chen, Wenjuan;Amin, Johansen B;Perozo, Eduardo;Hu, Chun;Kannan, Varun;Keller, Stephanie R;Wilcox, William R;Lemke, Johannes R;Myers, Scott J;Swanger, Sharon A;Wollmuth, Lonnie P;Petrovski, Slavé;Traynelis, Stephen F;Yuan, Hongjie;
293 views DOI Abstract
2019
A Substantial Proportion of Apparently Heterozygous TP53 Pathogenic Variants Detected with a Next-Generation Sequencing Hereditary Pan-Cancer Panel Are Acquired Somatically.
Coffee, Bradford;Cox, Hannah C;Bernhisel, Ryan;Manley, Susan;Bowles, Karla;Roa, Benjamin B;Mancini-DiNardo, Debora;
279 views DOI Abstract
2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus.
Himmelreich, Nastassja;Dimitrov, Bianca;Geiger, Virginia;Zielonka, Matthias;Hutter, Anna-Marlen;Beedgen, Lars;Hüllen, Andreas;Breuer, Maximilian;Peters, Verena;Thiemann, Kai-Christian;Hoffmann, Georg F;Sinning, Irmgard;Dupré, Thierry;Vuillaumier-Barrot, Sandrine;Barrey, Catherine;Denecke, Jonas;Kölfen, Wolfgang;Düker, Gesche;Ganschow, Rainer;Lentze, Michael J;Moore, Stuart;Seta, Nathalie;Ziegler, Andreas;Thiel, Christian;
Vol. 40 , No. 7 , pp. 938-951
276 views DOI Abstract
2020
FANCL gene mutations in premature ovarian insufficiency.
Yang, Yajuan;Guo, Ting;Liu, Ran;Ke, Hanni;Xu, Weiwei;Zhao, Shidou;Qin, Yingying;
274 views DOI Abstract
2019
A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2.
Karsak, Meliha;Glebov, Konstantin;Scheffold, Marina;Bajaj, Thomas;Kawalia, Amit;Karaca, Ilker;Rading, Sebastian;Kornhuber, Johannes;Peters, Oliver;Diez-Fairen, Monica;Frölich, Lutz;Hüll, Michael;Wiltfang, Jens;Scherer, Martin;Riedel-Heller, Steffi;Schneider, Anja;Heneka, Michael T;Fliessbach, Klaus;Sharaf, Ahmed;Thiele, Holger;Lennarz, Martina;Jessen, Frank;Maier, Wolfgang;Kubisch, Christian;Ignatova, Zoya;Nürnberg, Peter;Pastor, Pau;Walter, Jochen;Ramirez, Alfredo;
269 views DOI Abstract
2020
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India
Donovan, F.X.
Vol. 41 , pp. 122-128
258 views DOI
2011
the politics of reproductive health rights in uruguay: why the presidential veto (*) to the right to abortion is illegitimate (**)
;BANFI-VIQUE, Analía;CABRERA, Oscar A.;GÓMEZ-LUGO, Fanny;HEVIA, Martin
Vol. 12 , No. 2 , pp. 178-205
239 views Abstract
View All 26 Articles
40
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35
30
40
33
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Journament

Overall Quality Score

39.5/100

Tier: Poor

The Journament Overall Quality Score is a comprehensive metric that evaluates academic journals across multiple dimensions including engagement, accessibility, diversity, innovation, and community impact.

This score helps researchers, institutions, and publishers understand the holistic quality and impact of a journal beyond traditional metrics.

Engagement Score

30.6/100

Measures user interactions, views, citations, and community involvement with this journal's content.

Higher engagement scores indicate that the journal's content is actively being read, cited, and discussed within the academic community.

Accessibility Score

35.0/100

Evaluates how easily researchers can access journal content, including open access availability, ISSN registration, and indexing.

This metric considers factors such as paywalls, open access policies, and availability across different academic databases and search engines.

Diversity Score

30.0/100

Assesses geographic and institutional diversity of authors, editorial board composition, and topic breadth.

A diverse journal publishes work from various geographic regions, institutions, and covers a broad range of topics within its field.

Innovation Score

40.0/100

Evaluates research novelty, interdisciplinary work, and emerging topics based on AI analysis of article abstracts.

This score reflects how much the journal publishes cutting-edge research, explores new methodologies, and bridges different academic disciplines.

Community Impact Score

33.0/100

Measures scholarly contribution and real-world applications of published research.

This metric evaluates how the journal's research translates into practical applications, policy changes, and benefits to society beyond academia.

Timeliness Score

50.0/100

Evaluates recent publication activity, publication frequency, and currency of research topics.

Higher scores indicate consistent publishing schedules and timely coverage of current research trends.

Ethics & Transparency Score

0.0/100

Research Integrity (10% weight)

Assesses COPE standards compliance, ethical considerations in research, transparency in methodologies, and reproducibility practices.

This metric ensures the journal maintains high ethical standards and promotes transparent, trustworthy research.

Content Quality Score

0.0/100

Academic Rigor (20% weight) + Methodology Quality (12%)

Evaluates research methodology soundness, statistical rigor, theoretical framework strength, appropriateness of research methods, data quality, and clarity & readability.

This comprehensive metric ensures published research meets the highest academic standards.

Editorial Diversity Score

0.0/100

Author Diversity + Interdisciplinary Value (8%)

Measures geographic diversity of authors, institutional variety, editorial board composition, and cross-disciplinary connections.

Diverse editorial teams bring varied perspectives and reduce bias in academic publishing.

Publication Regularity Score

0.0/100

Assesses consistency of publication schedule, frequency stability, and predictable output patterns.

Regular publication schedules indicate reliable journal operations and consistent workflow management.

Geographic Reach Score

0.0/100

Evaluates international author representation, global readership distribution, and cross-border research collaboration.

Wide geographic reach indicates global impact and international recognition of the journal's research.