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Integrative regulation of hLMR1 by dietary and genetic factors in nonalcoholic fatty liver disease and hyperlipidemia Hum. Genet. (IF 5.3) Pub Date : 2024-03-17 Marcos E Jaso-Vera, Shohei Takaoka, Ishika Patel, Xiangbo Ruan
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Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency Hum. Genet. (IF 5.3) Pub Date : 2024-03-14
Abstract Premature ovarian insufficiency (POI) is a common reproductive aging disorder due to a dramatic decline of ovarian function before 40 years of age. Accumulating evidence reveals that genetic defects, particularly those related to DNA damage response, are a crucial contributing factor to POI. We have demonstrated that the functional Fanconi anemia (FA) pathway maintains the rapid proliferation
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PdmIRD: missense variants pathogenicity prediction for inherited retinal diseases in a disease-specific manner Hum. Genet. (IF 5.3) Pub Date : 2024-03-13 Bing Zeng, Dong Cheng Liu, Jian Guo Huang, Xiao Bo Xia, Bo Qin
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STEAP3 promotes colon cancer cell proliferation and migration via regulating histone acetylation Hum. Genet. (IF 5.3) Pub Date : 2024-03-13 Jinjuan Lv, Xiaoqian Liu, Zhiwei Sun, Jianfeng Gao, Xiaoqi Yu, Mengyan Zhang, Zhenyu Zhang, Shuangyi Ren, Yunfei Zuo
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PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss Hum. Genet. (IF 5.3) Pub Date : 2024-03-09 Shelby E. Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A. Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A. Indzhykulian, A. Eliot Shearer, Barbara Vona
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Trisomy silencing by XIST: translational prospects and challenges Hum. Genet. (IF 5.3) Pub Date : 2024-03-09 Khusali Gupta, Jan T. Czerminski, Jeanne B. Lawrence
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Clinical and genetic architecture of a large cohort with auditory neuropathy Hum. Genet. (IF 5.3) Pub Date : 2024-03-08
Abstract Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5% in 311 patients), and 14 genes were mutated in two or more patients. Among subgroups
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Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects Hum. Genet. (IF 5.3) Pub Date : 2024-03-07 Elias Oxman, Huili Li, Hong-Yan Wang, Irene E. Zohn
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Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies Hum. Genet. (IF 5.3) Pub Date : 2024-03-07 Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N. Eble, Melanie O’Leary, Ikeoluwa Osei-Owusu, Heidi L. Rehm, Shweta U. Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F. Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Seema Lalani, Jill A. Rosenfeld, Lindsay C. Burrage
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Functional categorization of gene regulatory variants that cause Mendelian conditions Hum. Genet. (IF 5.3) Pub Date : 2024-03-04 Y. H. Hank Cheng, Stephanie C. Bohaczuk, Andrew B. Stergachis
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The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease Hum. Genet. (IF 5.3) Pub Date : 2024-02-29 Claire L. O’Brien, Kim M. Summers, Natalia M. Martin, Dylan Carter-Cusack, Yuanhao Yang, Rasel Barua, Ojas V. A. Dixit, David A. Hume, Paul Pavli
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Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37 Hum. Genet. (IF 5.3) Pub Date : 2024-02-23 Marina Sanchez-Flores, Marc Corral-Juan, Esther Gasch-Navalón, Davide Cirillo, Ivelisse Sanchez, Antoni Matilla-Dueñas
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Bayesian network-based Mendelian randomization for variant prioritization and phenotypic causal inference Hum. Genet. (IF 5.3) Pub Date : 2024-02-21 Jianle Sun, Jie Zhou, Yuqiao Gong, Chongchen Pang, Yanran Ma, Jian Zhao, Zhangsheng Yu, Yue Zhang
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Identification of TACSTD2 as novel therapeutic targets for cisplatin-induced acute kidney injury by multi-omics data integration Hum. Genet. (IF 5.3) Pub Date : 2024-02-18 Zebin Deng, Zheng Dong, Yinhuai Wang, Yingbo Dai, Jiachen Liu, Fei Deng
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Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants Hum. Genet. (IF 5.3) Pub Date : 2024-02-13 Vasantha Jotwani, Stephanie Y. Yang, Heather Thiessen-Philbrook, Chirag R. Parikh, Ronit Katz, Gregory J. Tranah, Joachim H. Ix, Steve Cummings, Sushrut S. Waikar, Michael G. Shlipak, Mark J. Sarnak, Samir M. Parikh, Dan E. Arking
Experimental models suggest an important role for mitochondrial dysfunction in the pathogenesis of chronic kidney disease (CKD) and acute kidney injury (AKI), but little is known regarding the impact of common mitochondrial genetic variation on kidney health. We sought to evaluate associations of inherited mitochondrial DNA (mtDNA) variation with risk of CKD and AKI in a large population-based cohort
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Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants Hum. Genet. (IF 5.3) Pub Date : 2024-02-01 Mona Aminbeidokhti, Jia-Hua Qu, Shweta Belur, Hakan Cakmak, Eleni Jaswa, Ruth B. Lathi, Marina Sirota, Michael P. Snyder, Svetlana A. Yatsenko, Aleksandar Rajkovic
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Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder Hum. Genet. (IF 5.3) Pub Date : 2024-02-01 Ashraf Yahia, Danyang Li, Sanna Lejerkrans, Shyam Rajagopalan, Nelli Kalnak, Kristiina Tammimies
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Screening copy number variations in 35 unsolved inherited retinal disease families Hum. Genet. (IF 5.3) Pub Date : 2024-01-29 Xiaozhen Liu, Hehua Dai, Genlin Li, Ruixuan Jia, Xiang Meng, Shicheng Yu, Liping Yang, Jing Hong
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The pivotal role of long non-coding RNAs as potential biomarkers and modulators of chemoresistance in ovarian cancer (OC) Hum. Genet. (IF 5.3) Pub Date : 2024-01-26 Shika Hanif Malgundkar, Yahya Tamimi
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Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes Hum. Genet. (IF 5.3) Pub Date : 2024-01-24 Julia Schmidt, Silke Kaulfuß, Hagen Ott, Marianne Gaubert, Nadine Reintjes, Felix Bremmer, Steffi Dreha-Kulaczewski, Philipp Stroebel, Gökhan Yigit, Bernd Wollnik
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Vitamin D-binding protein deficiency: an underrecognized Mendelian disorder of vitamin D metabolism Hum. Genet. (IF 5.3) Pub Date : 2024-01-24 Zainab Al Masseri, Mashael Alqahtani, Eman Almoshawer, Fowzan S. Alkuraya
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Bi-allelic missense variants in MEI4 cause preimplantation embryonic arrest and female infertility Hum. Genet. (IF 5.3) Pub Date : 2024-01-22 Zhiqi Pan, Weijie Wang, Ling Wu, Zhongyuan Yao, Wenjing Wang, Yao Chen, Hao Gu, Jie Dong, Jian Mu, Zhihua Zhang, Jing Fu, Qiaoli Li, Lei Wang, Xiaoxi Sun, Yanping Kuang, Qing Sang, Biaobang Chen
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Exploring the effects of missense mutations on protein thermodynamics through structure-based approaches: findings from the CAGI6 challenges Hum. Genet. (IF 5.3) Pub Date : 2024-01-16 Carlos H. M. Rodrigues, Stephanie Portelli, David B. Ascher
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Genome-wide DNA methylation of lesional and peri-lesional skin in vitiligo: a comparative and integrated analysis of multi-omics in Chinese population Hum. Genet. (IF 5.3) Pub Date : 2024-01-06 Lin Liu, Yuzhou Xue, Yuxin Li, Yangmei Chen, Xingyu Pan, Yujing Huang, Tingqiao Chen, Judan Zhong, Xinyi Shao, Yihuan Pu, Jin Chen
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Genome-wide association and Mendelian randomization analysis provide insights into the shared genetic architecture between high-dimensional electrocardiographic features and ischemic heart disease Hum. Genet. (IF 5.3) Pub Date : 2024-01-05
Abstract Observational studies have revealed that ischemic heart disease (IHD) has a unique manifestation on electrocardiographic (ECG). However, the genetic relationships between IHD and ECG remain unclear. We took 12-lead ECG as phenotypes to conduct genome-wide association studies (GWAS) for 41,960 samples from UK-Biobank (UKB). By leveraging large-scale GWAS summary of ECG and IHD (downloaded from
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Genomic analysis of presumed perinatal stroke in Saudi Arabia reveals a strong monogenic contribution Hum. Genet. (IF 5.3) Pub Date : 2024-01-05 Muneera J. Alshammari, Hanan E. Shamseldin, Fahad Essbaiheen, Sara H. Eltahir, Ashwag R. Alruwaili, Firdous Abdulwahab, Fowzan S. Alkuraya
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Predicting the impact of rare variants on RNA splicing in CAGI6 Hum. Genet. (IF 5.3) Pub Date : 2024-01-03
Abstract Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant’s impact on splicing are needed to interpret the growing number of variants of unknown significance (VUS) identified by exome and genome sequencing. Here, we present the results of the CAGI6 Splicing VUS challenge, which invited
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Mining local exome and HLA data to characterize pharmacogenetic variants in Saudi Arabia Hum. Genet. (IF 5.3) Pub Date : 2023-12-30 Mohamed Abouelhoda, Noura Almuqati, Ahmed Abogosh, Feras Alfraih, Sateesh Maddirevula, Fowzan S. Alkuraya
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Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection Hum. Genet. (IF 5.3) Pub Date : 2023-12-29 Bryan L. Dinh, Echo Tang, Kekoa Taparra, Nathan Nakatsuka, Fei Chen, Charleston W. K. Chiang
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Regulation potential of transcribed simple repeated sequences in developing neurons Hum. Genet. (IF 5.3) Pub Date : 2023-12-28 Tek Hong Chung, Anna Zhuravskaya, Eugene V. Makeyev
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Impact of calmodulin missense variants associated with congenital arrhythmia on the thermal stability and the degree of unfolding Hum. Genet. (IF 5.3) Pub Date : 2023-12-28 Giuditta Dal Cortivo, Valerio Marino, Davide Zamboni, Daniele Dell’Orco
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Protein-centric omics integration analysis identifies candidate plasma proteins for multiple autoimmune diseases Hum. Genet. (IF 5.3) Pub Date : 2023-12-24
Abstract It remains challenging to translate the findings from genome-wide association studies (GWAS) of autoimmune diseases (AIDs) into interventional targets, presumably due to the lack of knowledge on how the GWAS risk variants contribute to AIDs. In addition, current immunomodulatory drugs for AIDs are broad in action rather than disease-specific. We performed a comprehensive protein-centric omics
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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals Hum. Genet. (IF 5.3) Pub Date : 2023-12-20 Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Roseline Caumes, Perrine Charles, Nicolas Chatron, Krystyna Chrzanowska, Marta Codina-Solà, Cindy Colson, Ivon Cuscó, Anne-Sophie Denommé-Pichon, Patrick Edery, Laurence Faivre, Andrew Green, Solveig Heide, Tzung-Chien Hsieh, Alexander Hustinx, Lotte Kleinendorst, Cordula Knopp, Florian Kraft, Peter M. Krawitz
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An emerging link between lncRNAs and cancer sex dimorphism Hum. Genet. (IF 5.3) Pub Date : 2023-12-14 Ikrame Naciri, Maria D. Andrade-Ludena, Ying Yang, Mei Kong, Sha Sun
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Unraveling phenotypic variance in metabolic syndrome through multi-omics Hum. Genet. (IF 5.3) Pub Date : 2023-12-14
Abstract Complex multi-omics effects drive the clustering of cardiometabolic risk factors, underscoring the imperative to comprehend how individual and combined omics shape phenotypic variation. Our study partitions phenotypic variance in metabolic syndrome (MetS), blood glucose (GLU), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), and blood pressure through genome, transcriptome
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Plasma-derived exosomal miRNA profiles reveal potential epigenetic pathogenesis of premature ovarian failure Hum. Genet. (IF 5.3) Pub Date : 2023-12-06 Jiaqiong Lin, Zhihong Wu, Yingchun Zheng, Zongrui Shen, Zhongzhi Gan, Shunfei Ma, Yanhui Liu, Fu Xiong
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Genetics and epigenetics of diabetes and its complications in India Hum. Genet. (IF 5.3) Pub Date : 2023-11-24 Ankita Priyadarshini, Riya Madan, Sadhan Das
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rs10924104 in the expression enhancer motif of CD58 confers susceptibility to human autoimmune diseases Hum. Genet. (IF 5.3) Pub Date : 2023-11-23 Yuki Hitomi, Kazuko Ueno, Yoshihiro Aiba, Nao Nishida, Yosuke Kawai, Minae Kawashima, Seik-Soon Khor, Sanami Takada, Chisato Iwabuchi, Masao Nagasaki, Katsushi Tokunaga, Minoru Nakamura
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Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants Hum. Genet. (IF 5.3) Pub Date : 2023-11-14 Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexander Rotenberg, Henry H. C. Lee, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mariarita Bertoldi, Phillip L. Pearl
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage Hum. Genet. (IF 5.3) Pub Date : 2023-11-14 Sandra Martins, Ashraf Yahia, Inês P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Dueñas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, António Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros
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Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project Hum. Genet. (IF 5.3) Pub Date : 2023-11-08 Feifan Xiao, Bingbing Wu, Chenbin Dong, Guoqiang Cheng, Yun Cao, Laishuan Wang, Xinran Dong, Yulan Lu, Lin Yang, Liping Chen, Long Li, Xinnian Pan, Qiufen Wei, Deyi Zhuang, Dongmei Chen, Zhaoqing Yin, Qi Ni, Rencao Liu, Suzhen Xu, Gang Li, Ping Zhang, Yanyan Qian, Xu Li, Xiaomin Peng, Yao Wang, Huijun Wang, Wenhao Zhou
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Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs) Hum. Genet. (IF 5.3) Pub Date : 2023-10-27 Edoardo Giuili, Robin Grolaux, Catarina Z. N. M. Macedo, Laurence Desmyter, Bruno Pichon, Sebastian Neuens, Catheline Vilain, Catharina Olsen, Sonia Van Dooren, Guillaume Smits, Matthieu Defrance
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CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia Hum. Genet. (IF 5.3) Pub Date : 2023-10-25 Shujun Zeng, Shuangyin Lei, Chao Qu, Yue Wang, Shuzhi Teng, Ping Huang
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KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster Hum. Genet. (IF 5.3) Pub Date : 2023-10-20 Meghna Singh, Sarah J. Spendlove, Angela Wei, Leroy M. Bondhus, Aileen A. Nava, Francisca N. de L. Vitorino, Seth Amano, Jacob Lee, Gesenia Echeverria, Dianne Gomez, Benjamin A. Garcia, Valerie A. Arboleda
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Functional implications of paralog genes in polyglutamine spinocerebellar ataxias Hum. Genet. (IF 5.3) Pub Date : 2023-10-16 Daniela Felício, Tanguy Rubat du Mérac, António Amorim, Sandra Martins
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How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism Hum. Genet. (IF 5.3) Pub Date : 2023-10-07 Wanxue Xu, Lacey Plummer, Stephanie B. Seminara, Ravikumar Balasubramanian, Margaret F. Lippincott
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Long noncoding RNAs as versatile molecular regulators of cellular stress response and homeostasis Hum. Genet. (IF 5.3) Pub Date : 2023-10-02 Julia Scholda, Thi Thuy Anh Nguyen, Florian Kopp
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Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation Hum. Genet. (IF 5.3) Pub Date : 2023-09-28 Shiyi Wang, Xinpeng Deng, Yuefei Wu, Yiwen Wu, Shengjun Zhou, Jianhong Yang, Yi Huang
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Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects Hum. Genet. (IF 5.3) Pub Date : 2023-09-28 Huizhen Fan, Zhou Zhou, Wei Zheng, Yichun Guan, Qingxia Meng, Wenjing Wang, Jie Dong, Liuxia Wan, Jiawei Zhu, Yang Zeng, Ruyi Liu, Hao Gu, Ge Lin, Biaobang Chen, Qing Sang, Lei Wang
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N6-methyladenosine modified lncRNAs signature for stratification of biochemical recurrence in prostate cancer Hum. Genet. (IF 5.3) Pub Date : 2023-09-27 Yingke Liang, Wenjun Yin, Zhouda Cai, Hongwei Luo, Qinwei Liu, Chuanfan Zhong, Jiahong Chen, Zhuoyuan Lin, Yaqiang Huang, Zhenguo Liang, Junhong Deng, Weide Zhong, Chao Cai, Jianming Lu
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A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration Hum. Genet. (IF 5.3) Pub Date : 2023-09-27 Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
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Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective Hum. Genet. (IF 5.3) Pub Date : 2023-09-27 Zijun Zhu, Xinyu Chen, Sainan Zhang, Rui Yu, Changlu Qi, Liang Cheng, Xue Zhang
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CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence Hum. Genet. (IF 5.3) Pub Date : 2023-09-27 Karina C. Silveira, Inara Chacon Fonseca, Connor Oborn, Parker Wengryn, Saima Ghafoor, Alexander Beke, Ema S. Dreseris, Cassandra Wong, Aline Iacovone, Carrie-Lynn Soltys, Riyana Babul-Hirji, Osvaldo Artigalas, Arthur Antolini-Tavares, Anne-Claude Gingras, Eric Campos, Denise P. Cavalcanti, Peter Kannu
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Circulating DNA reveals a specific and higher fragmentation of the Y chromosome Hum. Genet. (IF 5.3) Pub Date : 2023-09-25 Alain R. Thierry, Cynthia Sanchez, Jacques Colinge, Ekaterina Pisareva
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Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study Hum. Genet. (IF 5.3) Pub Date : 2023-09-20 Youngjun Kim, Jeong-Min Kim, Hye-Won Cho, Hyun-Young Park, Mi-Hyun Park
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The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review Hum. Genet. (IF 5.3) Pub Date : 2023-09-07 Charles L. Ford, William J. Riggs, Tera Quigley, Orion P. Keifer, Jonathon P. Whitton, Vassili Valayannopoulos
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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes Hum. Genet. (IF 5.3) Pub Date : 2023-09-07 Sarah W. Curtis, Jenna C. Carlson, Terri H. Beaty, Jeffrey C. Murray, Seth M. Weinberg, Mary L. Marazita, Justin L. Cotney, David J. Cutler, Michael P. Epstein, Elizabeth J. Leslie
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CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct Hum. Genet. (IF 5.3) Pub Date : 2023-09-05 Isabelle Roux, Cristina Fenollar-Ferrer, Hyun Jae Lee, Parna Chattaraj, Ivan A. Lopez, Kyungreem Han, Keiji Honda, Carmen C. Brewer, John A. Butman, Robert J. Morell, Donna M. Martin, Andrew J. Griffith
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Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins Hum. Genet. (IF 5.3) Pub Date : 2023-09-05 Cheuk Yan Chung, Dora Jue Pan, Silvia Paracchini, Wenxuan Jiang, Hon-Cheong So, Catherine McBride, Urs Maurer, Mo Zheng, Kwong Wai Choy
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A founder DBR1 variant causes a lethal form of congenital ichthyosis Hum. Genet. (IF 5.3) Pub Date : 2023-09-01 Hanan E. Shamseldin, Mukunth Sadagopan, Javier Martini, Ruslan Al-Ali, Mandy Radefeldt, Mojgan Ataei, Sabrina Lemke, Zuhair Rahbeeni, Fuad Al Mutairi, Faroug Ababneh, Hadeel A. AlRukban, Firdous Abdulwahab, Saleh Mohammed Alhajj, Peter Bauer, Aida Bertoli-Avella, Fowzan S. Alkuraya