Research Articleposted 2025-11-26 16:51:53
Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis
Juan Antonio Jiménez-Barceló, Alexander Damián Heine-Suñer, María Rosa Martorell-Riera, Angeles Pérez-Granero, Laura Torres-Juan, Fernando Santos-Simarro, Maria Garcia de Paso Mora, and 13 more authors
Under Review
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Research Articleposted 2025-10-17 02:03:27
Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental Disorders
ALEKSANDRA JEZELA-STANEK, TOMASZ SKALSKI, KAROLINA CHWIAŁKOWSKA
Under Revision
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Research Articleposted 2025-09-01 09:36:50
Exploratory analysis of HLA variants and occult HBV infection: a multicenter case-control study in Chinese blood donors
Lin Zhou, Ying Yan, Huimin Ji, Huizhen Sun, Zhuoqun Lu, Le Chang, Lunan Wang
Published
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Research Articleposted 2025-08-22 10:32:03
From birth to disease: 3D telomere archtecture and aurora kinase changes in Down syndrome
Fábio Morato de Oliveira, Isabela Dias Cruvinel, Bruno Machado Rezende Ferreira, Tamara Rodrigues Lima Zanuzzi, Laura Silva Lima, Sabine Mai
Under Revision
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Research Articleposted 2025-08-13 19:54:35
Genome-Wide Association Study Identifies Novel and Confirms Established Loci Associated with Serum Lipids Levels in Brazilians
Larissa Siqueira Penna, Raphael Bruno Amemiya, Isabela Archanjo Nunez, Ágnis Iohana Souza Grefenhagen, Vinicius Sousa Flores, Maria Vitoria Lima Oliveira, Liriel Almodobar, and 4 more authors
Under Review
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Research Articleposted 2025-06-29 14:38:57
Integrating Machine Learning and Spatial Transcriptomics Uncovers Shared Immunomodulatory Deubiquitinases in MAFLD and HCC
Yu-xi Han, Hongze Li, Wendi Xia, Junyi Ma, Jiaqi Zhang, Yiling Li
Under Review
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Research Articleposted 2025-05-06 09:57:39
Allele Age Estimation for Genetic Loci Associated with Autoinflammatory Diseases in Anatolia: Insights from Ancient and Modern DNA Analysis
Damla Karadavut, Gulsah Merve Kilinc, Idil yet
Published
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Research Articleposted 2024-08-11 12:03:15
Genetic Analysis of Preaxial Polydactyly: Identification of Novel Mutations and the Role of ZRS Duplications in a Chinese Cohort of 102 cases
Siyu Pu, Zhibo Wang, Xueyang Tang, Daoxi Wang, Xiaodong Yang, Jun Jiang, Yifan Deng, and 4 more authors
Published
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Research Articleposted 2024-07-02 18:45:10
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers
Yuanfei Sun, Shantanu Jain, Sean Mooney, Anne H. O’Donnell-Luria, Predrag Radivojac, Steven E. Brenner, Constantina Bakolitsa, and 16 more authors
Published
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Research Articleposted 2024-06-11 20:08:29
Human Organoids for Rapid Validation of Gene Variants Linked to Cochlear Malformations
Mohammad Faraz Zafeer, Memoona Ramzan, Duygu Duman, Ahmet Mutlu, Serhat Seyhan, Tayyar Kalcioglu, Suat Fitoz, and 4 more authors
Published
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