Search Results - "exome sequencing"

A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing by Huanfang Xu, Chunyan Wang, Han Wei, Tengyan Li, Yigong Fang, Binbin Wang

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Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases by Yayun Qin, Yanyi Yao, Nian Liu, Bo Wang, Lijun Liu, Hui Li, Tangxinzi Gao, Runhong Xu, Xiaoyan Wang, Fanglian Zhang, Jieping Song

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The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing by Jun Wang, Yan Wang, Liwen Wang, Wang Yang Chen, Min Sheng

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Whole-exome sequencing and bioinformatics analysis of a case of non-alpha-fetoprotein-elevated lung hepatoid adenocarcinoma by Yao Yao, Xiaojiao Guan, Guangyao Bao, Jie Liang, Tian Li, Xinwen Zhong

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A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China by Jia A, Lei Y, Liu DP, Pan L, Guan HZ, Yang B

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Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature by Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster

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A case of nephrocalcinosis in a 7‐month‐old with congenital hypothyroidism: Insights from targeted exome sequencing by Omar Zgheib, Lina Quteineh, Paloma Parvex, Caterina Marconi, Valerie Schwitzgebel, Massimiliano Bertacchi

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A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing by Junke Xia, Zhihui Jiao, Zhenhua Zhao, Jing Wu, Xiangdong Kong

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Metabolomics and Whole-Exome Sequencing in Patients with Differential Sensitivity to Sevoflurane: A Protocol for a Prospective Observational Trial by Yiyong Wei, Yiyong Wei, Donghang Zhang, Yunxia Zuo

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Clinical impact and cost-effectiveness of whole exome sequencing as a diagnostic tool: a pediatric center's experience by C. Alexander Valencia, Ammar eHusami, Jennifer eHolle, Judith A. Johnson, Yaping eQian, Abhinav eMathur, Chao eWei, Subba Rao Indugula, Fanggeng eZou, Haiying eMeng, Lijun eWang, Xia eLi, Rachel eFisher, Tony eTan, Amber eHogart Begtrup, Kathleen eCollins, Katie A. Wusik, Derek eNeilson, Thomas eBurrow, Elizabeth eSchorry, Robert eHopkin, Mehdi eKeddache, John Barker Harley, Kenneth M. Kaufman, Kejian eZhang

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Whole-exome sequencing reveals POLR3B variants associated with progeria-related Wiedemann-Rautenstrauch syndrome by Shao-Wen Wu, Lin Li, Fan Feng, Li Wang, Yuan-Yuan Kong, Xiao-Wei Liu, Chenghong Yin

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Whole-exome sequencing in three children with sporadic Blau syndrome, one of them co-presenting with recurrent polyserositis by Carlos Córdova-Fletes, Martha M. Rangel-Sosa, Lizeth A. Martínez-Jacobo, Luis Eduardo Becerra-Solano, Carmen Araceli Arellano-Valdés, José Alberto Tlacuilo-Parra, Kame Alberto Galán-Huerta, Ana María Rivas-Estilla, Angélica Alejandra Hernandez-Orozco, José Elías García-Ortiz

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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome by Chao Ling, Ruifang Sui, Fengxia Yao, Zhihong Wu, Xue Zhang, Shuyang Zhang

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Genotype-Phenotype Analysis of Children with Epilepsy Referred for Whole-Exome Sequencing at a Tertiary Care University Hospital by Fahad A. Bashiri, Rawan AlSheikh, Muddathir H. Hamad, Hamad Alsheikh, Rana Abdullah Alsheikh, Amal Kentab, Najd AlTheeb, Malak Alghamdi

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Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis by Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth, Tessa Homfray

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Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets by Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy

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Whole-exome sequencing identifies cancer-associated variants of the endo-lysosomal ion transport channels in the Saudi population by Lama Binobaid, Homood M. As Sobeai, Khalid Alhazzani, Lama AlAbdi, Meshari M. Alwazae, Moureq Alotaibi, John Parrington, Ali Alhoshani

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A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism by Wenjie Wang, Jianping Yang, Jinjie Xue, Wenjuan Mu, Xiaogang Zhang, Wang Wu, Mengnan Xu, Yuyan Gong, Yiqian Liu, Yu Zhang, Xiaobing Xie, Weiyue Gu, Jigeng Bai, David S. Cram

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Genetic analysis using whole-exome sequencing in pediatric chronic kidney disease: a single center's experience by Hyeonju Lee, Jeesu Min, Yo Han Ahn, Hee Gyung Kang

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Sequential filtering for clinically relevant variants as a method for clinical interpretation of whole exome sequencing findings in glioma by Ege Ülgen, Özge Can, Kaya Bilguvar, Cemaliye Akyerli Boylu, Şirin Kılıçturgay Yüksel, Ayça Erşen Danyeli, O. Uğur Sezerman, M. Cengiz Yakıcıer, M. Necmettin Pamir, Koray Özduman

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