Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: FBN1: R2150H; rs794728250

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications

Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH

Publication Date: 2022-05-04

Variant appearance in text: FBN1: 6449G>A; Arg2150His

PubMed Link: 35508466

Variant Present in the following documents:

• 41467_2022_29960_MOESM12_ESM.xlsx, sheet 1

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Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Nature Communications

Cordo', Valentina V; Meijer, Mariska T MT; Hagelaar, Rico R; de Goeij-de Haas, Richard R RR; Poort, Vera M VM; Henneman, Alex A AA; Piersma, Sander R SR; Pham, Thang V TV; Oshima, Koichi K; Ferrando, Adolfo A AA; Zaman, Guido J R GJR; Jimenez, Connie R CR; Meijerink, Jules P P JPP

Publication Date: 2022-02-25

Variant appearance in text: FBN1: R2150H

PubMed Link: 35217681

Variant Present in the following documents:

• 41467_2022_28682_MOESM4_ESM.xlsx, sheet 1

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: FBN1: 6449G>A

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Hepatocellular Carcinoma Xenografts Established From Needle Biopsies Preserve the Characteristics of the Originating Tumors.

Hepatology Communications

Blumer, Tanja T; Fofana, Isabel I; Matter, Matthias S MS; Wang, Xueya X; Montazeri, Hesam H; Calabrese, Diego D; Coto-Llerena, Mairene M; Boldanova, Tujana T; Nuciforo, Sandro S; Kancherla, Venkatesh V; Tornillo, Luigi L; Piscuoglio, Salvatore S; Wieland, Stefan S; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH

Publication Date: 2019-07

Variant appearance in text: FBN1: 6449G>A; Arg2150His

PubMed Link: 31334445

Variant Present in the following documents:

• HEP4-3-971-s003.xlsx, sheet 1

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