Publications:

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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: Asp1238Asn; rs794728208

PubMed Link: 37042257

Variant Present in the following documents:

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

View BVdb publication page

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Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics

Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S

Publication Date: 2021-12-16

Variant appearance in text: FBN1: 3712G>A; Asp1238Asn; rs794728208

PubMed Link: 34916231

Variant Present in the following documents:

• jmedgenet-2021-108186supp001.pdf

View BVdb publication page

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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: 3712G>A

PubMed Link: 34663891

Variant Present in the following documents:

• 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent.

Npj Genomic Medicine

Lacaze, Paul P; Sebra, Robert R; Riaz, Moeen M; Ingles, Jodie J; Tiller, Jane J; Thompson, Bryony A BA; James, Paul A PA; Fatkin, Diane D; Semsarian, Christopher C; Reid, Christopher M CM; Tonkin, Andrew M AM; Winship, Ingrid I; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-06-16

Variant appearance in text: FBN1: Asp1238Asn; rs794728208

PubMed Link: 34135346

Variant Present in the following documents:

• Main text
• 41525_2021_211_MOESM1_ESM.xlsx, sheet 1
• 41525_2021_Article_211.pdf

View BVdb publication page

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Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.

Molecular Genetics & Genomic Medicine

Cope, Heidi H; Spillmann, Rebecca R; Rosenfeld, Jill A JA; Brokamp, Elly E; Signer, Rebecca R; Schoch, Kelly K; Kelley, Emily G EG; Sullivan, Jennifer A JA; Macnamara, Ellen E; Lincoln, Sharyn S; Golden-Grant, Katie K; , ; Orengo, James P JP; Clark, Gary G; Burrage, Lindsay C LC; Posey, Jennifer E JE; Punetha, Jaya J; Robertson, Amy A; Cogan, Joy J; Phillips, John A JA; Martinez-Agosto, Julian J; Shashi, Vandana V

Publication Date: 2020-10

Variant appearance in text: FBN1: 3712G>A; Asp1238Asn

PubMed Link: 32730690

Variant Present in the following documents:

• Main text
• MGG3-8-e1397.pdf

View BVdb publication page

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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: 3712G>A; Asp1238Asn; rs794728208

PubMed Link: 32123317

Variant Present in the following documents:

• 41436_2020_766_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 3712G>A; D1238N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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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

Publication Date: 2019-09-04

Variant appearance in text: FBN1: 3712G>A; D1238N

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Human Mutation

Hilhorst-Hofstee, Yvonne Y; Rijlaarsdam, Marry E B ME; Scholte, Arthur J H A AJ; Swart-van den Berg, Marietta M; Versteegh, Michel I M MI; van der Schoot-van Velzen, Iris I; Schäbitz, Hans-Joachim HJ; Bijlsma, Emilia K EK; Baars, Marieke J MJ; Kerstjens-Frederikse, Wilhelmina S WS; Giltay, Jacques C JC; Hamel, Ben C BC; Breuning, Martijn H MH; Pals, Gerard G

Publication Date: 2010-12

Variant appearance in text: FBN1: 3712G>A; Asp1238Asn

PubMed Link: 20886638

Variant Present in the following documents:

• Main text
• humu0031-E1915.pdf

View BVdb publication page

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