Publications:

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: PRRT2: P215R; rs200926711

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl4.xlsx, sheet 6
• advancesADV2021006654-suppl12.xlsx, sheet 1

View BVdb publication page

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Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder.

Molecular Psychiatry

Griesi-Oliveira, K K; Fogo, M S MS; Pinto, B G G BGG; Alves, A Y AY; Suzuki, A M AM; Morales, A G AG; Ezquina, S S; Sosa, O J OJ; Sutton, G J GJ; Sunaga-Franze, D Y DY; Bueno, A P AP; Seabra, G G; Sardinha, L L; Costa, S S SS; Rosenberg, C C; Zachi, E C EC; Sertie, A L AL; Martins-de-Souza, D D; Reis, E M EM; Voineagu, I I; Passos-Bueno, M R MR

Publication Date: 2021-05

Variant appearance in text: PRRT2: P215R; rs200926711

PubMed Link: 32060413

Variant Present in the following documents:

• 41380_2020_669_MOESM8_ESM.xlsx, sheet 3

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: PRRT2: 644C>G

PubMed Link: 31124310

Variant Present in the following documents:

• Main text
• CNS-26-39.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: PRRT2: 644C>G; Pro215Arg

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Movement Disorders Clinical Practice

Kita, Makoto M; Kuwata, Yasuhiro Y; Murase, Nagako N; Akiyama, Yuichi Y; Usui, Takeshi T

Publication Date: 2017

Variant appearance in text: PRRT2: P215R

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: PRRT2: P215R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs200926711

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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The clinical and genetic heterogeneity of paroxysmal dyskinesias.

Brain : A Journal Of Neurology

Gardiner, Alice R AR; Jaffer, Fatima F; Dale, Russell C RC; Labrum, Robyn R; Erro, Roberto R; Meyer, Esther E; Xiromerisiou, Georgia G; Stamelou, Maria M; Walker, Matthew M; Kullmann, Dimitri D; Warner, Tom T; Jarman, Paul P; Hanna, Mike M; Kurian, Manju A MA; Bhatia, Kailash P KP; Houlden, Henry H

Publication Date: 2015-12

Variant appearance in text: PRRT2: P215R

PubMed Link: 26598494

Variant Present in the following documents:

• Main text
• awv310.pdf

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: P215R

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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Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

Plos One

Huguet, Guillaume G; Nava, Caroline C; Lemière, Nathalie N; Patin, Etienne E; Laval, Guillaume G; Ey, Elodie E; Brice, Alexis A; Leboyer, Marion M; Szepetowski, Pierre P; Gillberg, Christopher C; Depienne, Christel C; Delorme, Richard R; Bourgeron, Thomas T

Publication Date: 2014

Variant appearance in text: PRRT2: P215R

PubMed Link: 24594579

Variant Present in the following documents:

• Main text
• pone.0088600.pdf

View BVdb publication page

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IFITMs restrict the replication of multiple pathogenic viruses.

Journal Of Molecular Biology

Perreira, Jill M JM; Chin, Christopher R CR; Feeley, Eric M EM; Brass, Abraham L AL

Publication Date: 2013-12-13

Variant appearance in text: rs200926711

PubMed Link: 24076421

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Neurology

Gardiner, Alice R AR; Bhatia, Kailash P KP; Stamelou, Maria M; Dale, Russell C RC; Kurian, Manju A MA; Schneider, Susanne A SA; Wali, G M GM; Counihan, Tim T; Schapira, Anthony H AH; Spacey, Sian D SD; Valente, Enza-Maria EM; Silveira-Moriyama, Laura L; Teive, Hélio A G HA; Raskin, Salmo S; Sander, Josemir W JW; Lees, Andrew A; Warner, Tom T; Kullmann, Dimitri M DM; Wood, Nicholas W NW; Hanna, Michael M; Houlden, Henry H

Publication Date: 2012-11-20

Variant appearance in text: PRRT2: P215R

PubMed Link: 23077024

Variant Present in the following documents:

• Main text

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: PRRT2: 644C>G

PubMed Link: 22243967

Variant Present in the following documents:

• Main text

View BVdb publication page

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