Publications:

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The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.

Genes

Musleh, Mohammud M; Bull, Adam A; Linton, Emma E; Liu, Jingshu J; Waller, Sarah S; Hardcastle, Claire C; Clayton-Smith, Jill J; Sharma, Vinod V; Black, Graeme C GC; Biswas, Susmito S; Ashworth, Jane L JL; Sergouniotis, Panagiotis I PI

Publication Date: 2023-03-25

Variant appearance in text: FBN1: 6354C>T; Ile2118Ile

PubMed Link: 37107549

Variant Present in the following documents:

• genes-14-00791.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: FBN1: 6354C>T; Ile2118=

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: FBN1: 6354C>T; Ile2118Ile

PubMed Link: 36729443

Variant Present in the following documents:

• Main text
• iovs-64-2-5_s004.xlsx, sheet 1
• iovs-64-2-5.pdf

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Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology

Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y

Publication Date: 2022-12

Variant appearance in text: FBN1: 6354C>T; Ile2118Ile

PubMed Link: 34281902

Variant Present in the following documents:

• Main text
• bjophthalmol-2021-319084.pdf
• bjophthalmol-2021-319084supp003.pdf

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Proof-of-Concept: Antisense Oligonucleotide Mediated Skipping of Fibrillin-1 Exon 52.

International Journal Of Molecular Sciences

Cale, Jessica M JM; Greer, Kane K; Fletcher, Sue S; Wilton, Steve D SD

Publication Date: 2021-03-27

Variant appearance in text: FBN1: 6354C>T; Ile2118Ile

PubMed Link: 33801742

Variant Present in the following documents:

• Main text
• ijms-22-03479.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: FBN1: I2118I

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lenassi, Eva E; Clayton-Smith, Jill J; Douzgou, Sofia S; Ramsden, Simon C SC; Ingram, Stuart S; Hall, Georgina G; Hardcastle, Claire L CL; Fletcher, Tracy A TA; Taylor, Rachel L RL; Ellingford, Jamie M JM; Newman, William D WD; Fenerty, Cecilia C; Sharma, Vinod V; Lloyd, I Chris IC; Biswas, Susmito S; Ashworth, Jane L JL; Black, Graeme C GC; Sergouniotis, Panagiotis I PI

Publication Date: 2020-04

Variant appearance in text: FBN1: 6354C>T; Ile2118Ile

PubMed Link: 31848469

Variant Present in the following documents:

• 41436_2019_722_MOESM1_ESM.pdf

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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: 6354C>T; Ile2118=

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s003.xlsx, sheet 1

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: rs112989722

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 3

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: FBN1: 6354C>T; Ile2118=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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