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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19 Hum. Genet. (IF 5.3) Pub Date : 2024-04-12 Noam Hadar, Vadim Dolgin, Katya Oustinov, Yuval Yogev, Tomer Poleg, Amit Safran, Ofek Freund, Nadav Agam, Matan M. Jean, Regina Proskorovski-Ohayon, Ohad Wormser, Max Drabkin, Daniel Halperin, Marina Eskin-Schwartz, Ginat Narkis, Sufa Sued-Hendrickson, Ilana Aminov, Maya Gombosh, Sarit Aharoni, Ohad S. Birk
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Examination of the shared genetic architecture between multiple sclerosis and systemic lupus erythematosus facilitates discovery of novel lupus risk loci Hum. Genet. (IF 5.3) Pub Date : 2024-04-12 Sophia Kerns, Katherine A. Owen, Dana Schwalbe, Amrie C. Grammer, Peter E. Lipsky
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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy Hum. Genet. (IF 5.3) Pub Date : 2024-04-09 Johannes Kopp, Leonard A. Koch, Hristiana Lyubenova, Oliver Küchler, Manuel Holtgrewe, Andranik Ivanov, Christele Dubourg, Erika Launay, Sebastian Brachs, Stefan Mundlos, Nadja Ehmke, Dominik Seelow, Mélanie Fradin, Uwe Kornak, Björn Fischer-Zirnsak
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Genotype-phenotype correlation in CLCN4-related developmental and epileptic encephalopathy Hum. Genet. (IF 5.3) Pub Date : 2024-04-05 Ahmed N. Sahly, Juan Sierra-Marquez, Stefanie Bungert-Plümke, Arne Franzen, Lina Mougharbel, Saoussen Berrahmoune, Christelle Dassi, Chantal Poulin, Myriam Srour, Raul E. Guzman, Kenneth A. Myers
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Phenotypic and genetic effect of carotid intima-media thickness on the risk of stroke Hum. Genet. (IF 5.3) Pub Date : 2024-04-05 Wenqiang Zhang, Jingwei Zhu, Xuan Wu, Tianle Feng, Wei Liao, Xuan Li, Jianci Chen, Li Zhang, Chenghan Xiao, Huijie Cui, Chao Yang, Peijing Yan, Yutong Wang, Mingshuang Tang, Lin Chen, Yunjie Liu, Yanqiu Zou, Xueyao Wu, Ling Zhang, Chunxia Yang, Yuqin Yao, Jiayuan Li, Zhenmi Liu, Xia Jiang, Ben Zhang
While carotid intima-media thickness (cIMT) as a noninvasive surrogate measure of atherosclerosis is widely considered a risk factor for stroke, the intrinsic link underlying cIMT and stroke has not been fully understood. We aimed to evaluate the clinical value of cIMT in stroke through the investigation of phenotypic and genetic relationships between cIMT and stroke. We evaluated phenotypic associations
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Prioritizing genomic variants pathogenicity via DNA, RNA, and protein-level features based on extreme gradient boosting Hum. Genet. (IF 5.3) Pub Date : 2024-04-04 Maolin Ding, Ken Chen, Yuedong Yang, Huiying Zhao
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Variant effect predictors: a systematic review and practical guide Hum. Genet. (IF 5.3) Pub Date : 2024-04-04 Cristian Riccio, Max L. Jansen, Linlin Guo, Andreas Ziegler
Large-scale association analyses using whole-genome sequence data have become feasible, but understanding the functional impacts of these associations remains challenging. Although many tools are available to predict the functional impacts of genetic variants, it is unclear which tool should be used in practice. This work provides a practical guide to assist in selecting appropriate tools for variant
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Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data Hum. Genet. (IF 5.3) Pub Date : 2024-03-27 Alejandro Ferrer, Patrick Duffy, Rory J. Olson, Michael A. Meiners, Laura Schultz-Rogers, Erica L. Macke, Stephanie Safgren, Joel A. Morales-Rosado, Margot A. Cousin, Gavin R. Oliver, David Rider, Megan Williams, Pavel N. Pichurin, David R. Deyle, Eva Morava, Ralitza H. Gavrilova, Radhika Dhamija, Klass J. Wierenga, Brendan C. Lanpher, Dusica Babovic-Vuksanovic, Charu Kaiwar, Carolyn R. Vitek, Tammy
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Cross-ancestry genetic architecture and prediction for cholesterol traits Hum. Genet. (IF 5.3) Pub Date : 2024-03-27 Md. Moksedul Momin, Xuan Zhou, Elina Hyppönen, Beben Benyamin, S. Hong Lee
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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly Hum. Genet. (IF 5.3) Pub Date : 2024-03-25 Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H. C. Horn, Anna C. E. Hurst, Melissa A. Kelly, Michael C. Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R. Mark, Markus Morawski, Mathilde Nizon, Tomi Pastinen, Tilman Polster, Pascale Saugier-Veber, Jang SeSong, Heinrich Sticht, Jens
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The crucial prognostic signaling pathways of pancreatic ductal adenocarcinoma were identified by single-cell and bulk RNA sequencing data Hum. Genet. (IF 5.3) Pub Date : 2024-03-25 Wenwen Wang, Guo Chen, Wenli Zhang, Xihua Zhang, Manli Huang, Chen Li, Ling Wang, Zifan Lu, Jielai Xia
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An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases Hum. Genet. (IF 5.3) Pub Date : 2024-03-23
Abstract Identifying disease-causing variants in Rare Disease patients’ genome is a challenging problem. To accomplish this task, we describe a machine learning framework, that we called “Suggested Diagnosis”, whose aim is to prioritize genetic variants in an exome/genome based on the probability of being disease-causing. To do so, our method leverages standard guidelines for germline variant interpretation
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Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder Hum. Genet. (IF 5.3) Pub Date : 2024-03-23 Aiko Iwata-Otsubo, Cara M. Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P. Alves, Sarah K. Fiordaliso, Yukiko Kuroda, Jaime Vengoechea, Angela Grochowsky, Paige Ernste, Lauren Lulis, Addie Nesbitt, Ahmad Abou Tayoun, Christopher Gray, Meghan C. Towne, Kelly Radtke, Elizabeth A. Normand, Lindsay Rhodes, Christoph Seiler, Katsuhiko Shirahige, Kosuke Izumi
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An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population Hum. Genet. (IF 5.3) Pub Date : 2024-03-22 Alberto M. Parra-Perez, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez
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STRAS:a snakemake pipeline for genome-wide short tandem repeats annotation and score Hum. Genet. (IF 5.3) Pub Date : 2024-03-20 Mengna Zhang
High-throughput whole genome sequencing (WGS) is clinically used in finding single nucleotide variants and small indels. Several bioinformatics tools are developed to call short tandem repeats (STRs) copy numbers from WGS data, such as ExpansionHunter denovo, GangSTR and HipSTR. However, expansion disorders are rare and it is hard to find candidate expansions in single patient sequencing data with
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The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction Hum. Genet. (IF 5.3) Pub Date : 2024-03-20 Zhonghua Wang, Guangping Fu, Guanju Ma, Chunyan Wang, Qian Wang, Chaolong Lu, Lihong Fu, Xiaojing Zhang, Bin Cong, Shujin Li
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Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications Hum. Genet. (IF 5.3) Pub Date : 2024-03-20 Mengling Qi, Haoyang Zhang, Xuehao Xiu, Dan He, David N. Cooper, Yuanhao Yang, Huiying Zhao
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Genome-wide analyses reveal the regulatory roles of DNA methylation-regulated alternative promoter transcripts in breast cancer Hum. Genet. (IF 5.3) Pub Date : 2024-03-19 Yingdong Song, Tao Shen, Huihui Sun, Xiangting Wang
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A novel 193-plex MPS panel integrating STRs and SNPs highlights the application value of forensic genetics in individual identification and paternity testing Hum. Genet. (IF 5.3) Pub Date : 2024-03-18 Xueyuan Liu, Chengliang Yang, Xiaohui Chen, Xiaolong Han, Hong Liu, Xingkun Zhang, Quyi Xu, Xingyi Yang, Changhui Liu, Ling Chen, Chao Liu
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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