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Dideoxy DNA sequencing

Mutation Burden of Rare Variants in Schizophrenia Candidate Genes

Simon L. Girard, Patrick A. Dion, Cynthia V. Bourassa, Steve Geoffroy, Pamela Lachance-Touchette, Amina Barhdadi, Mathieu Langlois, Ridha Joober, Marie-Odile Krebs, Marie-Pierre Dubé, Guy A. Rouleau

published 03 Jun 2015

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Evaluation of Two Highly-Multiplexed Custom Panels for Massively Parallel Semiconductor Sequencing on Paraffin DNA

Vassiliki Kotoula, Aggeliki Lyberopoulou, Kyriaki Papadopoulou, Elpida Charalambous, Zoi Alexopoulou, Chryssa Gakou, Sotiris Lakis, Eleftheria Tsolaki, Konstantinos Lilakos, George Fountzilas

published 03 Jun 2015

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Mitochondrial Mutations in Subjects with Psychiatric Disorders

Adolfo Sequeira, Brandi Rollins, Christophe Magnan, Mannis van Oven, Pierre Baldi, Richard M. Myers, Jack D. Barchas, Alan F. Schatzberg, Stanley J. Watson, Huda Akil, William E. Bunney, Marquis P. Vawter

published 26 May 2015

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Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria C. Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Alessandro Stella, Patrizia Lastella, Mario Cutrone, Francesco Benedicenti, Francesco C. Susca, Margherita Patruno, Dora Varvara, Aldo Germani, Luciana Chessa, Nicola Laforgia, Romano Tenconi, Cristiano Simone, Nicoletta Resta

published 27 Apr 2015

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Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, Claudia Schubert, Nicolas Chatain, Stephanie Sontag, Susanne Isfort, Nadina Ortiz-Brüchle, Karla Schmitt, Luisa Krüger, Klaus Zerres, Martin Zenke, Tim H. Brümmendorf, Steffen Koschmieder

published 20 Apr 2015

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A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Xiuhong Pang, Huajie Luo, Yongchuan Chai, Xiaowen Wang, Lianhua Sun, Longxia He, Penghui Chen, Hao Wu, Tao Yang

published 27 Mar 2015

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APOBEC3A Is Implicated in a Novel Class of G-to-A mRNA Editing in WT1 Transcripts

Ahmadreza Niavarani, Erin Currie, Yasmin Reyal, Fernando Anjos-Afonso, Stuart Horswell, Emmanuel Griessinger, Jose Luis Sardina, Dominique Bonnet

published 25 Mar 2015

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Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

Jun Egawa, Yuichiro Watanabe, Chenyao Wang, Emiko Inoue, Atsunori Sugimoto, Toshiro Sugiyama, Hirofumi Igeta, Ayako Nunokawa, Masako Shibuya, Itaru Kushima, Naoki Orime, Taketsugu Hayashi, Takashi Okada, Yota Uno, Norio Ozaki, Toshiyuki Someya

published 25 Mar 2015

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Genotyping on ALDH2: Comparison of Four Different Technologies

Lina Zhang, Jinzhao Zhao, Guanglin Cui, Hong Wang, Dao Wen Wang

published 24 Mar 2015

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Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, Santiago Rodriguez, Tahani S. Alotaibi, Philip A. I. Guthrie, Sian Lewis, Aasiya Ginwalla, Tom R. Gaunt, Khalid K. Alharbi, Fahad M. Alsaif, Basma M. Alsaadi, Ian N. M. Day

published 23 Mar 2015

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Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, Yuta Komoike, Atsushi Ishii, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tetsuo Kubota, Tatsuya Fukasawa, Tohru Okanishi, Hideo Enoki, Takuya Tanabe, Akira Saito, Toru Furukawa, Toshiaki Shimizu, Carol J. Milligan, Steven Petrou, Sarah E. Heron, Leanne M. Dibbens, Shinichi Hirose, Akihisa Okumura

published 20 Mar 2015

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Detection of BRAF V600 Mutations in Melanoma: Evaluation of Concordance between the Cobas® 4800 BRAF V600 Mutation Test and the Methods Used in French National Cancer Institute (INCa) Platforms in a Real-Life Setting

Samia Mourah, Marc G. Denis, Fabienne Escande Narducci, Jérôme Solassol, Jean-Louis Merlin, Jean-Christophe Sabourin, Jean-Yves Scoazec, L’Houcine Ouafik, Jean-François Emile, Remy Heller, Claude Souvignet, Loïc Bergougnoux, Jean-Philippe Merlio

published 19 Mar 2015

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Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan

Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers

published 16 Mar 2015

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