Publications:

Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association

Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H

Publication Date: 2023-04-12

Variant appearance in text: FBN1: Gly1945Asp; rs1555395760

PubMed Link: 37042257

Variant Present in the following documents:

• JAH3-12-e028625-s001.pdf
• JAH3-12-e028625.pdf

View BVdb publication page

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

Publication Date: 2021-10-18

Variant appearance in text: FBN1: 5834G>A

PubMed Link: 34663891

Variant Present in the following documents:

• 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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: 5834G>A; Gly1945Asp; rs1555395760

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page