Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01
Variant appearance in text: LMNA: 1201C>T; Arg401Cys
Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision.
Frontiers In Pediatrics
Baban, Anwar A; Cicenia, Marianna M; Magliozzi, Monia M; Gnazzo, Maria M; Cantarutti, Nicoletta N; Silvetti, Massimo Stefano MS; Adorisio, Rachele R; Dallapiccola, Bruno B; Bertini, Enrico E; Novelli, Antonio A; Drago, Fabrizio F
Publication Date: 2020
Variant appearance in text: LMNA: 1201C>T; Arg401Cys
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10
Variant appearance in text: LMNA: 1201C>T; Arg401Cys
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
Mazzarotto, Francesco F; Tayal, Upasana U; Buchan, Rachel J RJ; Midwinter, William W; Wilk, Alicja A; Whiffin, Nicola N; Govind, Risha R; Mazaika, Erica E; de Marvao, Antonio A; Dawes, Timothy J W TJW; Felkin, Leanne E LE; Ahmad, Mian M; Theotokis, Pantazis I PI; Edwards, Elizabeth E; Ing, Alexander Y AY; Thomson, Kate L KL; Chan, Laura L H LLH; Sim, David D; Baksi, A John AJ; Pantazis, Antonis A; Roberts, Angharad M AM; Watkins, Hugh H; Funke, Birgit B; O'Regan, Declan P DP; Olivotto, Iacopo I; Barton, Paul J R PJR; Prasad, Sanjay K SK; Cook, Stuart A SA; Ware, James S JS; Walsh, Roddy R
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
Lamin A molecular compression and sliding as mechanisms behind nucleoskeleton elasticity.
Nature Communications
Makarov, Alex A AA; Zou, Juan J; Houston, Douglas R DR; Spanos, Christos C; Solovyova, Alexandra S AS; Cardenal-Peralta, Cristina C; Rappsilber, Juri J; Schirmer, Eric C EC
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: LMNA: R401C; rs61094188
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
European Journal Of Human Genetics : Ejhg
van Tienen, Florence H J FHJ; Lindsey, Patrick J PJ; Kamps, Miriam A F MAF; Krapels, Ingrid P IP; Ramaekers, Frans C S FCS; Brunner, Han G HG; van den Wijngaard, Arthur A; Broers, Jos L V JLV
Publication Date: 2019-03
Variant appearance in text: LMNA: 1201C>T; Arg401Cys
Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.
Human Molecular Genetics
Zhou, Can C; Li, Chen C; Zhou, Bin B; Sun, Huaqin H; Koullourou, Victoria V; Holt, Ian I; Puckelwartz, Megan J MJ; Warren, Derek T DT; Hayward, Robert R; Lin, Ziyuan Z; Zhang, Lin L; Morris, Glenn E GE; McNally, Elizabeth M EM; Shackleton, Sue S; Rao, Li L; Shanahan, Catherine M CM; Zhang, Qiuping Q
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.
Plos Genetics
Meinke, Peter P; Mattioli, Elisabetta E; Haque, Farhana F; Antoku, Susumu S; Columbaro, Marta M; Straatman, Kees R KR; Worman, Howard J HJ; Gundersen, Gregg G GG; Lattanzi, Giovanna G; Wehnert, Manfred M; Shackleton, Sue S
Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B).
Brain Pathology (Zurich, Switzerland)
Mittelbronn, Michel M; Hanisch, Frank F; Gleichmann, Marc M; Stötter, Mechthild M; Korinthenberg, Rudolf R; Wehnert, Manfred M; Bonne, Gisèle G; Rudnik-Schöneborn, Sabine S; Bornemann, Antje A