human mutation

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scopus ncbi ulakbim MEP: 2.173 Ödeme: 10000 Yılı: 2020 sci
Short Name hum mutat
Abbreviated Name hum mutat
ISSN 1098-1004
Aim and Scope
URL
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Publications Per Year

Top 10 Most Clicked Articles

2019 Sasorith, Souphatta, Baux, David, Bergougnoux, Anne, Paulet, Damien, Lahure, Alan, Bareil, Corinne, Taulan-Cadars, Magali, Roux, Anne-Françoise, Koenig, Michel, Claustres, Mireille, Raynal, Caroline,

The CYSMA web server: an example of integrative tool for in silico analysis of missense variants identified in Mendelian disorders. ,

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Clicks: 258
2019 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,

De Novo GRIN Variants in NMDA Receptor M2 Channel Pore-Forming Loop Are Associated with Neurological Diseases. ,

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Clicks: 255
2019 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,

Xq22 deletions and correlation with distinct neurological disease traits in females: further evidence for a contiguous gene syndrome. ,

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Clicks: 254
2019 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,

Chinese newborn screening for the incidence of G6PD deficiency and variant of G6PD gene from 2013 to 2017. ,

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Clicks: 228
2019 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,

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. ,

40: 938-951
Clicks: 226
2019 Coffee, Bradford, Cox, Hannah C, Bernhisel, Ryan, Manley, Susan, Bowles, Karla, Roa, Benjamin B, Mancini-DiNardo, Debora,

A Substantial Proportion of Apparently Heterozygous TP53 Pathogenic Variants Detected with a Next-Generation Sequencing Hereditary Pan-Cancer Panel Are Acquired Somatically. ,

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Clicks: 225
2019 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,

A rare heterozygous TREM2 coding variant identified in familial clustering of dementia affects an intrinsically disordered protein region and function of TREM2. ,

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Clicks: 224
2020 Yang, Yajuan, Guo, Ting, Liu, Ran, Ke, Hanni, Xu, Weiwei, Zhao, Shidou, Qin, Yingying,

FANCL gene mutations in premature ovarian insufficiency. ,

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Clicks: 223
2020 Donovan, F.X.

A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India ,

41: 122-128
Clicks: 208
2011 , BANFI-VIQUE, Analía, CABRERA, Oscar A., GÓMEZ-LUGO, Fanny, HEVIA, Martin

the politics of reproductive health rights in uruguay: why the presidential veto (*) to the right to abortion is illegitimate (**) ,

12: 178-205
Clicks: 182

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human mutation

ISSN: 1098-1004

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Indexing started on: August 21, 2019
Certificate issued on: September 10, 2025
Verification link: https://www.journament.com/journal_stat/2875

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