Publications:

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Genetic characterization of juvenile sudden cardiac arrest and death in Tuscany: The ToRSADE registry.

Frontiers In Cardiovascular Medicine

Girolami, Francesca F; Spinelli, Valentina V; Maurizi, Niccolò N; Focardi, Martina M; Nesi, Gabriella G; Maio, Vincenza V; Grifoni, Rossella R; Albora, Giuseppe G; Bertaccini, Bruno B; Targetti, Mattia M; Coppini, Raffaele R; Favilli, Silvia S; Olivotto, Iacopo I; Cerbai, Elisabetta E

Publication Date: 2022

Variant appearance in text: DSP: 2723G>A; Arg908His

PubMed Link: 36588553

Variant Present in the following documents:

• Main text
• fcvm-09-1080608.pdf

View BVdb publication page

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Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Journal Of The American Heart Association

Khan, Rabia S RS; Pahl, Elfriede E; Dellefave-Castillo, Lisa L; Rychlik, Karen K; Ing, Alexander A; Yap, Kai Lee KL; Brew, Casey C; Johnston, Jamie R JR; McNally, Elizabeth M EM; Webster, Gregory G

Publication Date: 2022-01-04

Variant appearance in text: DSP: 2723G>A; Arg908His

PubMed Link: 34935411

Variant Present in the following documents:

• JAH3-11-e022854-s001.pdf
• JAH3-11-e022854.pdf

View BVdb publication page

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The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: DSP: 2723G>A; Arg908His

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

View BVdb publication page

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Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases.

Bmc Medical Genomics

Refaat, Marwan M MM; Hassanieh, Sylvana S; Ballout, Jad A JA; Zakka, Patrick P; Hotait, Mostafa M; Khalil, Athar A; Bitar, Fadi F; Arabi, Mariam M; Arnaout, Samir S; Skouri, Hadi H; Abchee, Antoine A; Abi-Saleh, Bernard B; Khoury, Maurice M; Massouras, Andreas A; Nemer, Georges G

Publication Date: 2019-02-14

Variant appearance in text: rs142494121

PubMed Link: 30764827

Variant Present in the following documents:

• Main text
• 12920_2019_Article_478.pdf

View BVdb publication page

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Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.

Plos One

Sahlin, Ellika E; Gréen, Anna A; Gustavsson, Peter P; Liedén, Agne A; Nordenskjöld, Magnus M; Papadogiannakis, Nikos N; Pettersson, Karin K; Nilsson, Daniel D; Jonasson, Jon J; Iwarsson, Erik E

Publication Date: 2019

Variant appearance in text: rs142494121

PubMed Link: 30615648

Variant Present in the following documents:

• pone.0210017.s002.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: DSP: 2723G>A; R908H; rs142494121

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

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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: DSP: 2723G>A; Arg908His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: DSP: R908H; rs142494121

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8
• srep46105-s2.xls, sheet 6

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: DSP: R908H

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: DSP: R908H

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1
• NIHMS551112-supplement-9.xlsx, sheet 1

View BVdb publication page

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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: DSP: R908H

PubMed Link: 23299917

Variant Present in the following documents:

• ejhg2012283a.pdf

View BVdb publication page

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