Publications:

---

Mechanotransduction and Adrenergic Stimulation in Arrhythmogenic Cardiomyopathy: An Overview of in vitro and in vivo Models.

Frontiers In Physiology

Beffagna, Giorgia G; Sommariva, Elena E; Bellin, Milena M

Publication Date: 2020

Variant appearance in text: DSG2: V920G

PubMed Link: 33281612

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: DSG2: 2759T>G; Val920Gly

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: DSG2: 2759T>G; V920G

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Reduced desmoplakin immunofluorescence signal in arrhythmogenic cardiomyopathy with epicardial right ventricular outflow tract tachycardia.

Heartrhythm Case Reports

Rosset, Sabina S; Domingo, Argelia Medeiros AM; Asimaki, Angeliki A; Graf, Denis D; Metzger, Jacques J; Schwitter, Jürg J; Rotman, Samuel S; Pruvot, Etienne E

Publication Date: 2019-02

Variant appearance in text: DSG2: 2759T>G; Val920Gly

PubMed Link: 30820396

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Frontiers In Genetics

Cavaillé, Mathias M; Ponelle-Chachuat, Flora F; Uhrhammer, Nancy N; Viala, Sandrine S; Gay-Bellile, Mathilde M; Privat, Maud M; Bidet, Yannick Y; Bignon, Yves-Jean YJ

Publication Date: 2018

Variant appearance in text: DSG2: 2759T>G; Val920Gly

PubMed Link: 30233642

Variant Present in the following documents:

• fgene-09-00353.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: DSG2: 2759T>G; Val920Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.

Plos One

Reis, Viviane Neri de Souza VN; Kitajima, João Paulo JP; Tahira, Ana Carolina AC; Feio-Dos-Santos, Ana Cecília AC; Fock, Rodrigo Ambrósio RA; Lisboa, Bianca Cristina Garcia BC; Simões, Sérgio Nery SN; Krepischi, Ana C V AC; Rosenberg, Carla C; Lourenço, Naila Cristina NC; Passos-Bueno, Maria Rita MR; Brentani, Helena H

Publication Date: 2017

Variant appearance in text: DSG2: V920G; rs142841727

PubMed Link: 28118382

Variant Present in the following documents:

• pone.0170386.s007.xlsx, sheet 1

View BVdb publication page

---

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: DSG2: 2759T>G; Val920Gly

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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: rs142841727

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One

Olfson, Emily E; Cottrell, Catherine E CE; Davidson, Nicholas O NO; Gurnett, Christina A CA; Heusel, Jonathan W JW; Stitziel, Nathan O NO; Chen, Li-Shiun LS; Hartz, Sarah S; Nagarajan, Rakesh R; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2015

Variant appearance in text: DSG2: 2759T>G; Val920Gly; rs142841727

PubMed Link: 26332594

Variant Present in the following documents:

• pone.0135193.s002.xls, sheet 1

View BVdb publication page

---

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: DSG2: V920G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

View BVdb publication page

---

Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs142841727

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

---

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

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

Jurgens, Julie J; Ling, Hua H; Hetrick, Kurt K; Pugh, Elizabeth E; Schiettecatte, Francois F; Doheny, Kimberly K; Hamosh, Ada A; Avramopoulos, Dimitri D; Valle, David D; Sobreira, Nara N

Publication Date: 2015-10

Variant appearance in text: DSG2: 2759T>G; Val920Gly

PubMed Link: 25569433

Variant Present in the following documents:

View BVdb publication page

---

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European Journal Of Human Genetics : Ejhg

Andreasen, Charlotte C; Nielsen, Jonas B JB; Refsgaard, Lena L; Holst, Anders G AG; Christensen, Alex H AH; Andreasen, Laura L; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper H JH; Olesen, Morten S MS

Publication Date: 2013-09

Variant appearance in text: DSG2: V920G

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

---

Mutations with pathogenic potential in proteins located in or at the composite junctions of the intercalated disk connecting mammalian cardiomyocytes: a reference thesaurus for arrhythmogenic cardiomyopathies and for Naxos and Carvajal diseases.

Cell And Tissue Research

Rickelt, Steffen S; Pieperhoff, Sebastian S

Publication Date: 2012-05

Variant appearance in text: DSG2: V920G

PubMed Link: 22450909

Variant Present in the following documents:

• 441_2012_Article_1365.pdf

View BVdb publication page

---

Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Heart Rhythm

Gehmlich, Katja K; Asimaki, Angeliki A; Cahill, Thomas J TJ; Ehler, Elisabeth E; Syrris, Petros P; Zachara, Elisabetta E; Re, Federica F; Avella, Andrea A; Monserrat, Lorenzo L; Saffitz, Jeffrey E JE; McKenna, William J WJ

Publication Date: 2010-10

Variant appearance in text: DSG2: V920G

PubMed Link: 20708101

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Nature Clinical Practice. Cardiovascular Medicine

Awad, Mark M MM; Calkins, Hugh H; Judge, Daniel P DP

Publication Date: 2008-05

Variant appearance in text: DSG2: V920G

PubMed Link: 18382419

Variant Present in the following documents:

• Main text

View BVdb publication page

---