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Mutation databases

Prioritization of candidate genes for a South African family with Parkinson’s disease using in-silico tools

Boiketlo Sebate, Katelyn Cuttler, Ruben Cloete, Marcell Britz, Alan Christoffels, Monique Williams, Jonathan Carr, Soraya Bardien

published 26 Mar 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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Comprehensive in silico analysis and molecular dynamics of the superoxide dismutase 1 (SOD1) variants related to amyotrophic lateral sclerosis

Gabriel Rodrigues Coutinho Pereira, Bárbara de Azevedo Abrahim Vieira, Joelma Freire De Mesquita

published 25 Feb 2021

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Gene expression profiling identifies FLT3 mutation-like cases in wild-type FLT3 acute myeloid leukemia

Adrián Mosquera Orgueira, Andrés Peleteiro Raíndo, Miguel Cid López, Beatriz Antelo Rodríguez, José Ángel Díaz Arias, Roi Ferreiro Ferro, Natalia Alonso Vence, Ángeles Bendaña López, Aitor Abuín Blanco, Laura Bao Pérez, Paula Melero Valentín, Marta Sonia González Pérez, Claudio Cerchione, Giovanni Martinelli, Pau Montesinos Fernández, Manuel Mateo Pérez Encinas, José Luis Bello López

published 16 Feb 2021

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Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors

Dadasaheb Akolkar, Darshana Patil, Navin Srivastava, Revati Patil, Vineet Datta, Sachin Apurwa, Nitin Yashwante, Raja Dhasarathan, Rahul Gosavi, Jinumary John, Shabishta Khan, Ninad Jadhav, Priti Mene, Dhanashri Ahire, Sushant Pawar, Harshal Bodke, Subhraline Sahoo, Arun Nile, Dinesh Saindane, Harshal Darokar, Pradip Devhare, Ajay Srinivasan, Rajan Datar

published 08 Feb 2021

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Novel genetic variants of inborn errors of immunity

Farida Almarzooqi, Abdul-Kader Souid, Ranjit Vijayan, Suleiman Al-Hammadi

published 22 Jan 2021

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Whole-genome sequence analysis and comparisons between drug-resistance mutations and minimum inhibitory concentrations of Mycobacterium tuberculosis isolates causing M/XDR-TB

Ditthawat Nonghanphithak, Orawee Kaewprasert, Pratchakan Chaiyachat, Wipa Reechaipichitkul, Angkana Chaiprasert, Kiatichai Faksri

published 31 Dec 2020

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Genetic diversity of SARS-CoV-2 and clinical, epidemiological characteristics of COVID-19 patients in Hanoi, Vietnam

Tam Thi Nguyen, Thach Ngoc Pham, Trang Dinh Van, Trang Thu Nguyen, Diep Thi Ngoc Nguyen, Hoa Nguyen Minh Le, John-Sebastian Eden, Rebecca J. Rockett, Thuong Thi Hong Nguyen, Bich Thi Ngoc Vu, Giang Van Tran, Tan Van Le, Dominic E. Dwyer, H. Rogier van Doorn, on behalf of the OUCRU COVID-19 Research Group

published 17 Nov 2020

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein

Francisco R. Fields, Niraja Suresh, Morgan Hiller, Stefan D. Freed, Kasturi Haldar, Shaun W. Lee

published 05 Nov 2020

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Signatures of somatic mutations and gene expression from p16^INK4A positive head and neck squamous cell carcinomas (HNSCC)

Nabil F. Saba, Ashok R. Dinasarapu, Kelly R. Magliocca, Bhakti Dwivedi, Sandra Seby, Zhaohui S. Qin, Mihir Patel, Christopher C. Griffith, Xu Wang, Mark El-Deiry, Conor Ernst Steuer, Jeanne Kowalski, Dong Moon Shin, Michael E. Zwick, Zhuo Georgia Chen

published 28 Sep 2020

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Association between tumor mutation profile and clinical outcomes among Hispanic Latina women with triple-negative breast cancer

Alexander Philipovskiy, Alok K. Dwivedi, Roberto Gamez, Richard McCallum, Debabrata Mukherjee, Zeina Nahleh, Renato J. Aguilera, Sumit Gaur

published 04 Sep 2020

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Variable patterns of mutation density among Na_V1.1, Na_V1.2 and Na_V1.6 point to channel-specific functional differences associated with childhood epilepsy

Alejandra C. Encinas, Joseph C. Watkins, Iris Arenas Longoria, J. P. Johnson Jr, Michael F. Hammer

published 26 Aug 2020

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene

Annalaura Torella, Mariateresa Zanobio, Roberta Zeuli, Francesca del Vecchio Blanco, Marco Savarese, Teresa Giugliano, Arcomaria Garofalo, Giulio Piluso, Luisa Politano, Vincenzo Nigro

published 19 Aug 2020

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