Publications:

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data.

Bmc Bioinformatics

Mossotto, E E; Ashton, J J JJ; O'Gorman, L L; Pengelly, R J RJ; Beattie, R M RM; MacArthur, B D BD; Ennis, S S

Publication Date: 2019-05-16

Variant appearance in text: rs148871409

PubMed Link: 31096927

Variant Present in the following documents:

• Main text
• 12859_2019_Article_2877.pdf

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New endemic familial parkinsonism in south Moravia, Czech Republic and its genetical background.

Medicine

Bartoníková, Tereza T; Menšíková, Kateřina K; Kolaříková, Kristýna K; Vodička, Radek R; Vrtěl, Radek R; Otruba, Pavel P; Kaiserová, Michaela M; Vaštík, Miroslav M; Mikulicová, Lenka L; Ovečka, Josef J; Šáchová, Ludmila L; Dvorský, František F; Krša, Jiří J; Jugas, Petr P; Godava, Marek M; Bareš, Martin M; Janout, Vladimír V; Hluštík, Petr P; Procházka, Martin M; Kaňovský, Petr P

Publication Date: 2018-09

Variant appearance in text: rs148871409

PubMed Link: 30235682

Variant Present in the following documents:

• medi-97-e12313.pdf

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Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer's disease.

Neuropathology And Applied Neurobiology

Patel, T T; Brookes, K J KJ; Turton, J J; Chaudhury, S S; Guetta-Baranes, T T; Guerreiro, R R; Bras, J J; Hernandez, D D; Singleton, A A; Francis, P T PT; Hardy, J J; Morgan, K K

Publication Date: 2018-08

Variant appearance in text: PINK1: Q115P; rs148871409

PubMed Link: 29181857

Variant Present in the following documents:

• Main text

View BVdb publication page