A Case Study Identified a New Mutation in the TTN Gene for Inherited Hypertrophic Cardiomyopathy by Dong J, Liu M, Chen Q, Zha L

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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

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Identification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients by Nisha Sharma, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

Subjects: “…whole exome sequencing…”
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Somatic Mutations from Whole Exome Sequencing Analysis of the Patients with Biliary Tract Cancer by Kyong-Ah Yoon, Sang Myung Woo, Yun-Hee Kim, Sun-Young Kong, Sung-Sik Han, Sang-Jae Park, Woo Jin Lee

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Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China by Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Zhu

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Whole Exome Sequencing Reveals Rare Variants in Genes Associated with Metabolic Disorders in Women with PCOS by Priyal Sharma, Ashutosh Halder, Manish Jain, Manish Tripathi

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Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio by Vera Belova, Iuliia Vasiliadis, Zhanna Repinskaia, Alina Samitova, Anna Shmitko, Natalya Ponikarovskaya, Oleg Suchalko, Valery Cheranev, Shatalov Peter, Shegai Peter, Kaprin Andrey, Denis Rebrikov, Dmitriy Korostin

Subjects: “…Whole exome sequencing…”
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Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy by Huafang Zou, Huafang Zou, Qian Zhang, Jianxiang Liao, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao, Dezhi Cao

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Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation by Sai Zhang, Zhaofei Dong, Jing Guo, Ze Li, Hong Wu, Linming Zhang, Fuli Min, Tao Zeng

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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region by Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

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A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report by Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis

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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

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SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review by Yuqian Wang, Li Zhang, Jing Zhu, Liu Yang, Chan Wang, Ning Zou

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Validity of patient-derived xenograft mouse models for lung cancer based on exome sequencing data by Jaewon Kim, Hwanseok Rhee, Jhingook Kim, Sanghyuk Lee

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Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans by Soo Heon Kwak, Yoon Ji Kim, Jeesoo Chae, Cue Hyunkyu Lee, Buhm Han, Jong-Il Kim, Hye Seung Jung, Young Min Cho, Kyong Soo Park

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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

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Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway by Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen

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Case Report: Prenatal diagnosis of novel compound heterozygous variants in WDR35 gene causing short-rib thoracic dysplasia 7 with or without polydactyly by Jianlong Zhuang, Junyu Wang, Zhengping Huang, Yu’e Chen, Chunnuan Chen

Subjects: “…whole exome sequencing…”
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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

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