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Mutation databases

Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine

Fawziah Mohammed, Alaa Elshafey, Haya Al-balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki

published 30 May 2018

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Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na⁺ channel blocking pharmacotherapy for de novo conduction disease

Jie Liu, Jason D. Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J. Vigmond, Robert Tsushima, Peter H. Backx, Vijay S. Chauhan

published 23 May 2018

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Cancer driver mutation prediction through Bayesian integration of multi-omic data

Zixing Wang, Kwok-Shing Ng, Tenghui Chen, Tae-Beom Kim, Fang Wang, Kenna Shaw, Kenneth L. Scott, Funda Meric-Bernstam, Gordon B. Mills, Ken Chen

published 08 May 2018

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ENTPRISE-X: Predicting disease-associated frameshift and nonsense mutations

Hongyi Zhou, Mu Gao, Jeffrey Skolnick

published 03 May 2018

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Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors

Antonio Pannuti, Aleksandra Filipovic, Chindo Hicks, Elliot Lefkowitz, Travis Ptacek, Justin Stebbing, Lucio Miele

published 23 Mar 2018

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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3

Sezer Acar, Huda A. BinEssa, Korcan Demir, Roua A. Al-Rijjal, Minjing Zou, Gönül Çatli, Ahmet Anık, Anwar F. Al-Enezi, Seçil Özışık, Manar S. A. Al-Faham, Ayhan Abacı, Bumin Dündar, Walaa E. Kattan, Maysoon Alsagob, Salih Kavukçu, Hamdi E. Tamimi, Brian F. Meyer, Ece Böber, Yufei Shi

published 05 Mar 2018

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Selective identification of somatic mutations in pancreatic cancer cells through a combination of next-generation sequencing of plasma DNA using molecular barcodes and a bioinformatic variant filter

Yoji Kukita, Kazuyoshi Ohkawa, Ryoji Takada, Hiroyuki Uehara, Kazuhiro Katayama, Kikuya Kato

published 16 Feb 2018

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ProtDataTherm: A database for thermostability analysis and engineering of proteins

Hassan Pezeshgi Modarres, Mohammad R. Mofrad, Amir Sanati-Nezhad

published 29 Jan 2018

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A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux

Amelie T. van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M. Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O. Kehinde, Shrikant M. Mane, Richard P. Lifton, Neveen Soliman, Weining Lu, Stuart B. Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt

published 19 Jan 2018

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Clinical characteristics and registry-validated extended pedigrees of germline TP53 mutation carriers in Denmark

Ulrik Stoltze, Anne-Bine Skytte, Henriette Roed, Henrik Hasle, Bent Ejlertsen, Thomas van Overeem Hansen, Kjeld Schmiegelow, Anne-Marie Gerdes, Karin Wadt

published 11 Jan 2018

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Global computational mutagenesis provides a critical stability framework in protein structures

Caitlyn L. McCafferty, Yuri V. Sergeev

published 07 Dec 2017

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Markers of epithelial-to-mesenchymal transition reflect tumor biology according to patient age and Gleason score in prostate cancer

Dorota Jędroszka, Magdalena Orzechowska, Raneem Hamouz, Karolina Górniak, Andrzej K. Bednarek

published 04 Dec 2017

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A common mechanism by which type 2A von Willebrand disease mutations enhance ADAMTS13 proteolysis revealed with a von Willebrand factor A2 domain FRET construct

Christopher J. Lynch, Adam D. Cawte, Carolyn M. Millar, David Rueda, David A. Lane

published 29 Nov 2017

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