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DNA sequencing

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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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia

Alejandro García-Castaño, Leire Madariaga, Montserrat Antón-Gamero, Natalia Mejia, Jenny Ponce, Sara Gómez-Conde, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Rosa Martínez, Laura Saso, Idoia Martínez de LaPiscina, Inés Urrutia, Olaia Velasco, Aníbal Aguayo, Luis Castaño, Sonia Gaztambide

published 30 Sep 2020

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Lower DNA methylation levels in CpG island shores of CR1, CLU, and PICALM in the blood of Japanese Alzheimer’s disease patients

Risa Mitsumori, Kazuya Sakaguchi, Daichi Shigemizu, Taiki Mori, Shintaro Akiyama, Kouichi Ozaki, Shumpei Niida, Nobuyoshi Shimoda

published 29 Sep 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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Sensitive and reliable evaluation of single-cut sgRNAs to restore dystrophin by a GFP-reporter assay

Pin Lyu, Kyung Whan Yoo, Manish Kumar Yadav, Anthony Atala, Annemieke Aartsma-Rus, Maaike van Putten, Dongsheng Duan, Baisong Lu

published 24 Sep 2020

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Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study

Borut Peterlin, Francesca Gualandi, Ales Maver, Serenella Servidei, Silvère M. van der Maarel, Francoise Lamy, Alexander Mejat, Teresinha Evangelista, Alessandra Ferlini

published 18 Sep 2020

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Evaluation of molecular inversion probe versus TruSeq® custom methods for targeted next-generation sequencing

Rowida Almomani, Margherita Marchi, Maurice Sopacua, Patrick Lindsey, Erika Salvi, Bart de Koning, Silvia Santoro, Stefania Magri, Hubert J. M. Smeets, Filippo Martinelli Boneschi, Rayaz R. Malik, Dan Ziegler, Janneke G. J. Hoeijmakers, Gidon Bönhof, Sulayman Dib-Hajj, Stephen G. Waxman, Ingemar S. J. Merkies, Giuseppe Lauria, Catharina G. Faber, Monique M. Gerrits, on behalf on the PROPANE Study Group

published 02 Sep 2020

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A genetic analysis of a Spanish population with early onset Parkinson’s disease

Tejera-Parrado Cristina, Mir Pablo, Periñán María Teresa, Vela-Desojo Lydia, Abreu-Rodríguez Irene, Alonso-Cánovas Araceli, Bernal-Bernal Inmaculada, Bonilla-Toribio Marta, Buiza-Rueda Dolores, Catalán-Alonso María José, García-Ramos Rocío, García-Ruiz Pedro José, Huertas-Fernández Ismael, Jesús Silvia, Miguel A-Espinosa Labrador, López-Manzanares Lydia, Martínez-Castrillo Juan Carlos, Ignacio J. Posada, Rojo-Sebastián Ana, Ruiz-Huete Cristina, Del Val Javier, Pilar Gómez-Garre

published 01 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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The clinical significance of stringent complete response in multiple myeloma is surpassed by minimal residual disease measurements

Maria-Teresa Cedena, Estela Martin-Clavero, Sandy Wong, Nina Shah, Natasha Bahri, Rafael Alonso, Carmen Barcenas, Antonio Valeri, Johny Salazar Tabares, Jose Sanchez-Pina, Clara Cuellar, Thomas Martin, Jeffrey Wolf, Juan-Jose Lahuerta, Joaquin Martinez-Lopez

published 31 Aug 2020

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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

Geeta Madathil Govindaraj, Abhinav Jain, Geetha Peethambaran, Rahul C. Bhoyar, Shamsudheen Karuthedath Vellarikkal, Arvind Ganapati, Pulukool Sandhya, Athulya Edavazhippurath, Dhananjayan Dhanasooraj, Jayakrishnan Machinary Puthenpurayil, Krishnan Chakkiyar, Anushree Mishra, Arushi Batra, Anu Punnen, Sathish Kumar, Sridhar Sivasubbu, Vinod Scaria

published 21 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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