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Gene sequencing

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Oliver Drechsel, Dorothy Loth, Anna Marcé-Grau, Olga Mestres i Soler, Maria A. Poca, Stephan Ossowski, Alfons Macaya, Francis Loth, Rick Labuda, Allison Ashley-Koch

published 11 May 2021

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Analytical validation and performance characteristics of a 48-gene next-generation sequencing panel for detecting potentially actionable genomic alterations in myeloid neoplasms

Sun Hee Rosenthal, Anna Gerasimova, Charles Ma, Hai-Rong Li, Andrew Grupe, Hansook Chong, Allan Acab, Alla Smolgovsky, Renius Owen, Christopher Elzinga, Rebecca Chen, Daniel Sugganth, Tracey Freitas, Jennifer Graham, Kristen Champion, Anindya Bhattacharya, Frederick Racke, Felicitas Lacbawan

published 28 Apr 2021

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BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, Galina V. Baydakova, Anna A. Stepanova, Yulia S. Itkis, Victoria S. Kakaulina, Irina P. Alferova, Lidya V. Lyazina, Lilya P. Andreeva, Ilya Kanivets, Ekaterina Y. Zakharova, Sergey I. Kutsev, Aleksander V. Polyakov

published 06 Apr 2021

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High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, Ildar Munerovich Barkhatov, Maria Vladimirovna Barabanshikova, Dmitrii Sergeevich Bug, Natalya Vitalievna Petuhova, Artem Valerievich Tishkov, Evgenyi Alexandrovich Bakin, Ekaterina Andreevna Izmailova, Alena Igorevna Shakirova, Alexandr Dmitrievich Kulagin, Elena Vladislavovna Morozova

published 17 Mar 2021

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Clinical benefit for clinical sequencing using cancer panel testing

Sadaaki Nishimura, Atsushi Sugimoto, Shuhei Kushiyama, Shingo Togano, Kenji Kuroda, Yurie Yamamoto, Makoto Yamauchi, Toshiyuki Sumi, Hiroyasu Kaneda, Tomoya Kawaguchi, Minoru Kato, Mizuki Tagami, Naoto Oebisu, Manabu Hoshi, Kenjiro Kimura, Shoji Kubo, Kazuya Muguruma, Tsutomu Takashima, Masaichi Ohira, Masakazu Yashiro

published 26 Feb 2021

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Challenges in microbiological identification of aerobic bacteria isolated from the skin of reptiles

Maria Brockmann, Heike Aupperle-Lellbach, Michaela Gentil, Anton Heusinger, Elisabeth Müller, Rachel E. Marschang, Michael Pees

published 19 Oct 2020

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Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

Johannes Jernqvist Gaare, Gonzalo Nido, Christian Dölle, Paweł Sztromwasser, Guido Alves, Ole-Bjørn Tysnes, Kristoffer Haugarvoll, Charalampos Tzoulis

published 01 Oct 2020

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A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods

Linea Christine Trudsø, Jeppe Dyrberg Andersen, Stine Bøttcher Jacobsen, Sofie Lindgren Christiansen, Clàudia Congost-Teixidor, Marie-Louise Kampmann, Niels Morling

published 28 Sep 2020

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Evaluation of the GenoType NTM-DR assay performance for the identification and molecular detection of antibiotic resistance in Mycobacterium abscessus complex

Nicolas Bouzinbi, Olivier Marcy, Thibault Bertolotti, Raphael Chiron, Pascale Bemer, Martine Pestel-Caron, Olivia Peuchant, Hélène Guet-Revillet, Marie-Sarah Fangous, Geneviève Héry-Arnaud, Abdoul-Salam Ouedraogo, Anne-Laure Bañuls, Sylvain Godreuil

published 25 Sep 2020

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An approach to increase the success rate of cultivation of soil bacteria based on fluorescence-activated cell sorting

Laura Espina

published 31 Aug 2020

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Identification of French Guiana anopheline mosquitoes by MALDI-TOF MS profiling using protein signatures from two body parts

Sébastien Briolant, Monique Melo Costa, Christophe Nguyen, Isabelle Dusfour, Vincent Pommier de Santi, Romain Girod, Lionel Almeras

published 20 Aug 2020

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Exon sequencing mutation detection algorithm based on PCR matching

Guobin Chen, Xianzhong Xie

published 13 Aug 2020

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Rapid genotyping protocol to improve dengue virus serotype 2 survey in Lao PDR

Elodie Calvez, Somphavanh Somlor, Souksakhone Viengphouthong, Charlotte Balière, Phaithong Bounmany, Sitsana Keosenhom, Valérie Caro, Marc Grandadam

published 07 Aug 2020

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