Publications:

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: FBN1: 3089A>G; Asn1030Ser

PubMed Link: 31506931

Variant Present in the following documents:

• Main text
• CGE-97-235.pdf
• CGE-97-235-s003.xlsx, sheet 3

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De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Wang, Shuling S; Niu, Ziru Z; Wang, Hui H; Ma, Minyue M; Zhang, Wei W; Fang Wang, Shu S; Wang, Jun J; Yan, Hong H; Liu, Yifan Y; Duan, Na N; Zhang, Xiandong X; Yao, Yuanqing Y

Publication Date: 2017-06-26

Variant appearance in text: FBN1: 3089A>G

PubMed Link: 28650953

Variant Present in the following documents:

• Main text
• medscimonit-23-3136.pdf

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Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome.

Journal Of Assisted Reproduction And Genetics

Thornhill, Alan R AR; Handyside, Alan H AH; Ottolini, Christian C; Natesan, Senthil A SA; Taylor, Jon J; Sage, Karen K; Harton, Gary G; Cliffe, Kerry K; Affara, Nabeel N; Konstantinidis, Michalis M; Wells, Dagan D; Griffin, Darren K DK

Publication Date: 2015-03

Variant appearance in text: FBN1: 3089A>G

PubMed Link: 25561157

Variant Present in the following documents:

• Main text
• 10815_2014_Article_405.pdf

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