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Mutation databases

PIK3CA mutations and their impact on survival outcomes of patients with endometrial cancer: A systematic review and meta-analysis

Hanna K. Bredin, Camilla Krakstad, Erling A. Hoivik

published 21 Mar 2023

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Using AlphaFold to predict the impact of single mutations on protein stability and function

Marina A. Pak, Karina A. Markhieva, Mariia S. Novikova, Dmitry S. Petrov, Ilya S. Vorobyev, Ekaterina S. Maksimova, Fyodor A. Kondrashov, Dmitry N. Ivankov

published 16 Mar 2023

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Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma

Ryan Cardenas, Peter Prinsley, Carl Philpott, Mahmood F. Bhutta, Emma Wilson, Daniel S. Brewer, Barbara A. Jennings

published 15 Mar 2023

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Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation

Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar

published 27 Feb 2023

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Hepatitis B virus genotypes and drug resistance mutations circulating in blood donors in Beira, Mozambique

Ann Mathew, Nalia Ismael, Heidi Meeds, Adolfo Vubil, Ana Flora Zicai, Nédio Mabunda, Jason T. Blackard

published 16 Feb 2023

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss

Peiliang Lei, Qingwen Zhu, Wenrong Dong, Siqi Zhang, Yanyan Sun, Xitong Du, Meng Geng, Yuan Jiang

published 09 Nov 2022

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Bicarbonate defective CFTR variants increase risk for chronic pancreatitis: A meta-analysis

Gergő Berke, Noémi Gede, Letícia Szadai, Klementina Ocskay, Péter Hegyi, Miklós Sahin-Tóth, Eszter Hegyi

published 20 Oct 2022

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Phylodynamics of a regional SARS-CoV-2 rapid spreading event in Colorado in late 2020

Kristen J. Wade, Samantha Tisa, Chloe Barrington, Jesslyn C. Henriksen, Kristy R. Crooks, Christopher R. Gignoux, Austin T. Almand, J. Jordan Steel, John C. Sitko, Joseph W. Rohrer, Douglas P. Wickert, Erin A. Almand, David D. Pollock, Olivia S. Rissland

published 04 Oct 2022

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Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, Sheila M. Styrchak, Samantha R. Hardy, Jackson J. Wallner, Ross S. Milne, R. Leavitt Morrison, David E. Shapiro, Esaú C. João, Mark H. Mirochnick, Lisa M. Frenkel

published 27 Sep 2022

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Prevalence estimates of putatively pathogenic leptin variants in the gnomAD database

Luisa Sophie Rajcsanyi, Yiran Zheng, Pamela Fischer-Posovszky, Martin Wabitsch, Johannes Hebebrand, Anke Hinney

published 19 Sep 2022

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Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers

Abdulaziz B. Hamid, Lauren E. Frank, Renee A. Bouley, Ruben C. Petreaca

published 15 Sep 2022

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Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat, Farkhanda Manzoor

published 29 Aug 2022

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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

Tejashwini Vittal Kumar, Meenakshi Bhat, Sanjeeva Ghanti Narayanachar, Vinu Narayan, Ambika K. Srikanth, Swathi Anikar, Swathi Shetty

published 14 Jul 2022

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