Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Journal Of Translational Medicine
Ponińska, Joanna Kinga JK; Bilińska, Zofia Teresa ZT; Truszkowska, Grażyna G; Michalak, Ewa E; Podgórska, Anna A; Stępień-Wojno, Małgorzata M; Chmielewski, Przemysław P; Lutyńska, Anna A; Płoski, Rafał R
Publication Date: 2022-01-25
Variant appearance in text: FBN1: 7003C>T; Arg2335Trp
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease.
International Journal Of Molecular Sciences
Verhagen, Judith M A JMA; Burger, Joyce J; Bekkers, Jos A JA; den Dekker, Alexander T AT; von der Thüsen, Jan H JH; Zajec, Marina M; Brüggenwirth, Hennie T HT; van der Sterre, Marianne L T MLT; van den Born, Myrthe M; Luider, Theo M TM; van IJcken, Wilfred F J WFJ; Wessels, Marja W MW; Essers, Jeroen J; Roos-Hesselink, Jolien W JW; van der Pluijm, Ingrid I; van de Laar, Ingrid M B H IMBH; Brosens, Erwin E
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06
Variant appearance in text: FBN1: 7003C>T; Arg2335Trp; rs794728262
The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.
Orphanet Journal Of Rare Diseases
Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F