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Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder
Bhatia, Sameer, Pal, Swasti, Kulshrestha, Samarth, Gupta, Dhiren, Soni, Arun, Saxena, Renu, Bijarnia-Mahay, Sunita, Verma, Ishwar Chander, Puri, Ratna Dua
Published in European journal of human genetics : EJHG (01.09.2024)
Published in European journal of human genetics : EJHG (01.09.2024)
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Abstract 4252: Detecting microsatellite instability in ffpe tissue from crc subjects using next generation sequencing
Pati, Amrita, Wang, Hao, Mirebrahim, Hamid, Saelee, Seng, Lefkowitz, Joshua, Chien, Sean, Singh, Ashla, Casey, Fergal, Rapoport, Vera, Ma, Xiaoju Max, Lee, John, Lovejoy, Alex, Klass, Daniel, Adams, Hans-Peter
Published in Cancer research (Chicago, Ill.) (01.07.2019)
Published in Cancer research (Chicago, Ill.) (01.07.2019)
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The effectiveness of expanded carrier screening based on next-generation sequencing for severe monogenic genetic diseases
Zhang, Xue, Chen, Qian, Li, Junnan, Luo, Xin, Luo, Jianyun, Li, Jian, Zeng, Ziye, Wu, Yan, Zhang, Hua, Dong, Yanling
Published in Human genomics (31.01.2024)
Published in Human genomics (31.01.2024)
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Identification of genetic variants related to metabolic syndrome by next-generation sequencing
Lee, Sanghoo, Kim, Seol-A, Hong, Jeonghoon, Kim, Yejin, Hong, Gayeon, Baik, SaeYun, Choi, Kyeonghwan, Lee, Mi-Kyeong, Lee, Kyoung-Ryul
Published in Diabetology and metabolic syndrome (23.08.2022)
Published in Diabetology and metabolic syndrome (23.08.2022)
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Monitoring of SARS-CoV-2 Infection in Ragusa Area: Next Generation Sequencing and Serological Analysis
Denaro, Maria, Ferro, Elisa, Barrano, Giuseppe, Meli, Salvatore, Busacca, Mariangela, Corallo, Damiano, Capici, Alessia, Zisa, Alessandra, Cucuzza, Luana, Gradante, Sandra, Occhipinti, Marialuisa, Santalucia, Paola, Elia, Raffaele, Aliquò, Angelo, Tibullo, Daniele, Fidone, Carmelo, Bramanti, Vincenzo
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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A 28nm Fully Integrated End-to-End Genome Analysis Accelerator for Next-Generation Sequencing
Wu, Yi-Chung, Chen, Yen-Lung, Yang, Chung-Hsuan, Lee, Chao-Hsi, Chen, Wen-Ching, Lin, Liang-Yi, Chang, Nian-Shyang, Lin, Chun-Pin, Chen, Chi-Shi, Hung, Jui-Hung, Yang, Chia-Hsiang
Published in IEEE transactions on biomedical circuits and systems (27.03.2025)
Published in IEEE transactions on biomedical circuits and systems (27.03.2025)
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Novel LEPR mutations in obese Pakistani children identified by PCR‐based enrichment and next generation sequencing
Saeed, Sadia, Bonnefond, Amélie, Manzoor, Jaida, Philippe, Julien, Durand, Emmanuelle, Arshad, Mohsin, Sand, Olivier, Butt, Taeed A, Falchi, Mario, Arslan, Muhammad, Froguel, Philippe
Published in Obesity (Silver Spring, Md.) (01.04.2014)
Published in Obesity (Silver Spring, Md.) (01.04.2014)
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Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity
Suspitsin, Evgeny N., Guseva, Marina N., Kostik, Mikhail M., Sokolenko, Anna P., Skripchenko, Nataliya V., Levina, Anastasia S., Goleva, Olga V., Dubko, Margarita F., Tumakova, Anastasia V., Makhova, Maria A., Lyazina, Lidiya V., Bizin, Ilya V., Sokolova, Natalia E., Gabrusskaya, Tatiana V., Ditkovskaya, Liliya V., Kozlova, Olga P., Vahliarskaya, Svetlana S., Kondratenko, Irina V., Imyanitov, Evgeny N.
Published in Clinical genetics (01.09.2020)
Published in Clinical genetics (01.09.2020)
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Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South–Central Italian Cohort
De Paolis, Elisa, Tilocca, Bruno, Lombardi, Carla, De Bonis, Maria, Concolino, Paola, Onori, Maria Elisabetta, Ricciardi Tenore, Claudio, Perrucci, Alessia, Roncada, Paola, Capoluongo, Ettore, Urbani, Andrea, Minucci, Angelo, Santonocito, Concetta
Published in Genes (11.08.2023)
Published in Genes (11.08.2023)
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Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening
Murdock, David R., Donovan, Frank X., Chandrasekharappa, Settara C., Banks, Nicole, Bondy, Carolyn, Muenke, Maximilian, Kruszka, Paul
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
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Reliability of genomic variants across different next-generation sequencing platforms and bioinformatic processing pipelines
Weißbach, Stephan, Sys, Stanislav, Hewel, Charlotte, Todorov, Hristo, Schweiger, Susann, Winter, Jennifer, Pfenninger, Markus, Torkamani, Ali, Evans, Doug, Burger, Joachim, Everschor-Sitte, Karin, May-Simera, Helen Louise, Gerber, Susanne
Published in BMC genomics (19.01.2021)
Published in BMC genomics (19.01.2021)
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Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP
Coll, Monica, Striano, Pasquale, Ferrer-Costa, Carles, Campuzano, Oscar, Matés, Jesús, del Olmo, Bernat, Iglesias, Anna, Pérez-Serra, Alexandra, Mademont, Irene, Picó, Ferran, Oliva, Antonio, Brugada, Ramon
Published in PloS one (19.12.2017)
Published in PloS one (19.12.2017)
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Genetic counseling (GC) in the era of next generation sequencing (NGS) to diagnose microsatellite instability (MSI) and deficient mismatch repair (dMMR) expression in colorectal cancer (CRC)
Gundarlapalli, Sravani, Govindarajan, Rangaswamy
Published in Journal of clinical oncology (01.06.2025)
Published in Journal of clinical oncology (01.06.2025)
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Metagenomic next-generation sequencing for diagnosis of infectious encephalitis and meningitis: a retrospective study of 90 patients
Zhang, Mengling, Chen, Lanlan, Zhao, Haina, Qiao, Tingting, Jiang, Li, Wang, Chenxin, Zhong, Xingxing, Li, Xiaobo, Xu, Yao
Published in Neurological research (New York) (01.02.2024)
Published in Neurological research (New York) (01.02.2024)
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Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China
Yang, Tong, Luo, Xuemei, Liu, Yanqiu, Lin, Min, Zhao, Qinfei, Zhang, Wenqian, Chen, Zhigang, Dong, Minghua, Wang, Junli, Wang, Qi, Zhang, Xiaokang, Zhong, Tianyu
Published in Human genomics (17.08.2023)
Published in Human genomics (17.08.2023)
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MP35-11 COMPARATIVE ANALYSIS OF THE MICROBIOME OF CHRONIC PROSTATITIS, ACUTE CYSTITIS AND ASYMPTOMATIC HEALTHY SUBJECTS: THE KEY TO INTERPRETATION OF NEXT GENERATION SEQUENCING URINE REPORTS
Nickel, J. Curtis, Canada, Kingston, Tipton, Craig D., Phillips, Caleb D., Martin, Rick, Crawford, E. David
Published in The Journal of urology (01.09.2021)
Published in The Journal of urology (01.09.2021)
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BRCA1 founder mutations and beyond in the Polish population: A single-institution BRCA1/2 next-generation sequencing study
Kowalik, Artur, Siołek, Monika, Kopczyński, Janusz, Krawiec, Kamila, Kalisz, Joanna, Zięba, Sebastian, Kozak-Klonowska, Beata, Wypiórkiewicz, Elżbieta, Furmańczyk, Jowita, Nowak-Ozimek, Ewelina, Chłopek, Małgorzata, Macek, Paweł, Smok-Kalwat, Jolanta, Góźdź, Stanisław
Published in PloS one (24.07.2018)
Published in PloS one (24.07.2018)
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