Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: PRRT2: 950G>A; Ser317Asn

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: PRRT2: 950G>A

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.

Brain And Behavior

Yang, Li L; You, Cuiping C; Qiu, Shiyan S; Yang, Xiaofan X; Li, Yufen Y; Liu, Feng F; Zhang, Dongqing D; Niu, Yue Y; Xu, Liyun L; Xu, Na N; Li, Xia X; Luo, Fang F; Yang, Junli J; Li, Baomin B

Publication Date: 2020-05

Variant appearance in text: PRRT2: Ser317Asn

PubMed Link: 32237035

Variant Present in the following documents:

• Main text
• BRB3-10-e01597.pdf

View BVdb publication page

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Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Cns Neuroscience & Therapeutics

Zhao, Shao-Yun SY; Li, Li-Xi LX; Chen, Yu-Lan YL; Chen, Yi-Jun YJ; Liu, Gong-Lu GL; Dong, Hai-Lin HL; Chen, Dian-Fu DF; Li, Hong-Fu HF; Wu, Zhi-Ying ZY

Publication Date: 2020-01

Variant appearance in text: ICCA: 950G>A

PubMed Link: 31124310

Variant Present in the following documents:

• Main text
• CNS-26-39.pdf

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PRRT2: 950G>A; S317N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PRRT2: S317N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Neurology

Cloarec, Robin R; Bruneau, Nadine N; Rudolf, Gabrielle G; Massacrier, Annick A; Salmi, Manal M; Bataillard, Marc M; Boulay, Clotilde C; Caraballo, Roberto R; Fejerman, Natalio N; Genton, Pierre P; Hirsch, Edouard E; Hunter, Alasdair A; Lesca, Gaetan G; Motte, Jacques J; Roubertie, Agathe A; Sanlaville, Damien D; Wong, Sau-Wei SW; Fu, Ying-Hui YH; Rochette, Jacques J; Ptácek, Louis J LJ; Szepetowski, Pierre P

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: S317N

PubMed Link: 23077017

Variant Present in the following documents:

• Main text

View BVdb publication page

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The use of next-generation sequencing in movement disorders.

Frontiers In Genetics

Krebs, Catharine E CE; Paisán-Ruiz, Coro C

Publication Date: 2012

Variant appearance in text: PRRT2: 950G>A

PubMed Link: 22593763

Variant Present in the following documents:

• Main text
• fgene-03-00075.pdf

View BVdb publication page

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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

American Journal Of Human Genetics

Heron, Sarah E SE; Grinton, Bronwyn E BE; Kivity, Sara S; Afawi, Zaid Z; Zuberi, Sameer M SM; Hughes, James N JN; Pridmore, Clair C; Hodgson, Bree L BL; Iona, Xenia X; Sadleir, Lynette G LG; Pelekanos, James J; Herlenius, Eric E; Goldberg-Stern, Hadassa H; Bassan, Haim H; Haan, Eric E; Korczyn, Amos D AD; Gardner, Alison E AE; Corbett, Mark A MA; Gécz, Jozef J; Thomas, Paul Q PQ; Mulley, John C JC; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; Dibbens, Leanne M LM

Publication Date: 2012-01-13

Variant appearance in text: ICCA: 950G>A

PubMed Link: 22243967

Variant Present in the following documents:

• Main text

View BVdb publication page

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