Publications:

---

Protein Network Analysis of Whole Exome Sequencing of Severe Preeclampsia.

Frontiers In Genetics

Schuster, Jessica J; Tollefson, George A GA; Zarate, Valeria V; Agudelo, Anthony A; Stabila, Joan J; Ragavendran, Ashok A; Padbury, James J; Uzun, Alper A

Publication Date: 2021

Variant appearance in text: rs76335820

PubMed Link: 35719905

Variant Present in the following documents:

• Main text
• fgene-12-765985.pdf

View BVdb publication page

---

Modifier genes in SCN1A-related epilepsy syndromes.

Molecular Genetics & Genomic Medicine

de Lange, Iris M IM; Mulder, Flip F; van 't Slot, Ruben R; Sonsma, Anja C M ACM; van Kempen, Marjan J A MJA; Nijman, Isaac J IJ; Ernst, Robert F RF; Knoers, Nine V A M NVAM; Brilstra, Eva H EH; Koeleman, Bobby P C BPC

Publication Date: 2020-04

Variant appearance in text: PRRT2: 647C>A; Pro216His

PubMed Link: 32032478

Variant Present in the following documents:

• Main text
• MGG3-8-e1103.pdf

View BVdb publication page

---

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: 647C>A

PubMed Link: 31124310

Variant Present in the following documents:

• Main text
• CNS-26-39.pdf

View BVdb publication page

---

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: P216H

PubMed Link: 30713971

Variant Present in the following documents:

• Main text

View BVdb publication page

---

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly.

Cell Reports

Coleman, Jeff J; Jouannot, Ouardane O; Ramakrishnan, Sathish K SK; Zanetti, Maria N MN; Wang, Jing J; Salpietro, Vincenzo V; Houlden, Henry H; Rothman, James E JE; Krishnakumar, Shyam S SS

Publication Date: 2018-01-16

Variant appearance in text: PRRT2: P216H

PubMed Link: 29346777

Variant Present in the following documents:

• Main text
• mmc1.pdf
• mmc2.pdf
• main.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: PRRT2: 647C>A; Pro216His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

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: 647C>A; P216H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

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: rs76335820

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: P216H

PubMed Link: 26598494

Variant Present in the following documents:

• Main text
• awv310.pdf

View BVdb publication page

---

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: rs76335820

PubMed Link: 24076421

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: P216H

PubMed Link: 23077024

Variant Present in the following documents:

• Main text

View BVdb publication page

---