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Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1486 - 1486
In the published version of this article, the name of the 18th author was misspelled as Minjie Lou. The correct name is Minjie Luo. The authors regret the... 
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 10/2018, Volume 20, Issue 10, pp. 1298 - 1298
In the published version of this article, the degree of author Bo Zhang was incorrectly listed as PhD. The correct degree is BS. 
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 07/2014, Volume 35, Issue 7, pp. 868 - 879
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/-cardiac myosin heavy chain encoded by the gene MYH7, as... 
Laing distal myopathy | FIBER-TYPE DISPROPORTION | HEAVY-CHAIN | MPD1 | SEQUENCE VARIATION | CARDIOMYOPATHY | DISEASE | GENETICS & HEREDITY | STORAGE MYOPATHY | MISSENSE MUTATIONS | MYH7 | Myosin | Muscles | Boycotts | Family | Genetic aspects | Muscle proteins | Muscular dystrophy | Musculoskeletal system | Mutation | Scoliosis | Cardiomyopathy
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 01/2019, Volume 21, Issue 1, pp. 38 - 48
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery of novel gene–disease and... 
PROTEIN | DE-NOVO MUTATIONS | GENES | HAPLOINSUFFICIENCY CAUSES | PATHOLOGY | INHERITANCE | INTELLECTUAL DISABILITY SYNDROME
Journal Article
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 03/2019, Volume 179, Issue 3, pp. 365 - 372
MYH7‐related disease (MRD) is the most common hereditary primary cardiomyopathy (CM), with pathogenic MYH7 variants accounting for approximately 40% of... 
MYH7‐related disease | cardiomyopathy | skeletal myopathy | MYH7 | MYH7-related disease | SARCOMERE MUTATIONS | HYPERTROPHIC CARDIOMYOPATHY | METAANALYSIS | GENE | GENETICS & HEREDITY | MYOSIN STORAGE MYOPATHY | SPECTRUM | Genotype & phenotype | Phenotypes | Genetic counseling | Cardiomyopathy | Heredity | Clinical medicine | Genotypes
Journal Article
by Böhm, Johann and Biancalana, Valérie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz‐Laguna, Andoni and Wallgren‐Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Bomme Ousager, Lilian and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S. B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Poza Aldea, Juan José and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin‐Garraud, Valérie and Béroud, Christophe and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A. H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Brennan Spitale, Allison and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean‐Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article
by Jarvik, Gail P and Amendola, Laura M and Berg, Jonathan S and Brothers, Kyle and Clayton, Ellen W and Chung, Wendy and Evans, Barbara J and Evans, James P and Fullerton, Stephanie M and Gallego, Carlos J and Garrison, Nanibaa’ A and Gray, Stacy W and Holm, Ingrid A and Kullo, Iftikhar J and Lehmann, Lisa Soleymani and McCarty, Cathy and Prows, Cynthia A and Rehm, Heidi L and Sharp, Richard R and Salama, Joseph and Sanderson, Saskia and Van Driest, Sara L and Williams, Marc S and Williams, Janet and Wolf, Wendy A and Wolf, Susan M and Harley, John and Myers, Melanie and Namjou, Bahram and Vinks, Sander and Connolly, John and Keating, Brendan and Gerhard, Glenn and Sundaresan, Agnes and Tromp, Gerard and Crosslin, David and Leppig, Kathy and Wicklund, Cathy and Chute, Christopher and Lynch, John and De Andrade, Mariza and Heit, John and McCormick, Jen and Brilliant, Murray and Kitchner, Terrie and Ritchie, Marylyn and Böttinger, Erwin and Peter, Inga and Persell, Stephen and Rasmussen-Torvik, Laura and McGregor, Tracy and Roden, Dan and Antommaria, Armand and Chiavacci, Rosetta and Faucett, Andy and Ledbetter, David and Hartzler, Andrea and Vitek, Carolyn R. Rohrer and Frost, Norm and Ferryman, Kadija and Horowitz, Carol and Rhodes, Rosamond and Zinberg, Randi and Aufox, Sharon and Pan, Vivian and Long, Rochelle and Ramos, Erin and Odgis, Jackie and Wise, Anastasia and Hull, Sara and Gitlin, Jonathan and Green, Robert and Metterville, Danielle and McGuire, Amy and Kong, Sek Won and Trinidad, Sue and Veenstra, David and Roche, Myra and Skinner, Debra and Raspberry, Kelly and O’Daniel, Julianne and Parsons, Will and Eng, Christine and Hilsenbeck, Susan and Karavite, Dean and Conlin, Laura and Spinner, Nancy and Krantz, Ian and Falk, Marni and Santani, Avni and Dechene, Elizabeth and Dulik, Matthew and Bernhardt, Barbara and Schuetze, Scott and Everett, Jessica and Gornick, Michele Caroline and Wilfond, Ben and Tabor, Holly and Lemke, Amy A and Richards, Sue and ... and CERC Comm and CSER Act-ROR Working Grp and eMERGE Act-ROR Comm and eMERGE Act-ROR Committee and CERC Committee and CSER Act-ROR Working Group
The American Journal of Human Genetics, ISSN 0002-9297, 06/2014, Volume 94, Issue 6, pp. 818 - 826
Journal Article