Publications:

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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: RET: M1009T; rs375213011

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.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: RET: M1009T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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Unique Aberrations in Intimal Sarcoma Identified by Next-Generation Sequencing as Potential Therapy Targets.

Cancers

Roszik, Jason J; Khan, Abir A; Conley, Anthony P AP; Livingston, J Andrew JA; Groisberg, Roman R; Ravi, Vinod V; Carmagnani Pestana, Roberto R; Sen, Shiraj S; Subbiah, Vivek V

Publication Date: 2019-08-31

Variant appearance in text: RET: M1009T

PubMed Link: 31480474

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs375213011

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Recurrent Olfactory Neuroblastoma Treated With Cetuximab and Sunitinib: A Case Report.

Medicine

Wang, Lizhi L; Ding, Yan Y; Wei, Lai L; Zhao, Dewei D; Wang, Ruoyu R; Zhang, Yuewei Y; Gu, Xuesong X; Wang, Zhiqiang Z

Publication Date: 2016-05

Variant appearance in text: RET: Met1009Thr

PubMed Link: 27149458

Variant Present in the following documents:

• Main text
• medi-95-e3536.pdf

View BVdb publication page

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Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Kidney International

Hwang, Daw-Yang DY; Dworschak, Gabriel C GC; Kohl, Stefan S; Saisawat, Pawaree P; Vivante, Asaf A; Hilger, Alina C AC; Reutter, Heiko M HM; Soliman, Neveen A NA; Bogdanovic, Radovan R; Kehinde, Elijah O EO; Tasic, Velibor V; Hildebrandt, Friedhelm F

Publication Date: 2014-06

Variant appearance in text: RET: 3026T>C; M1009T

PubMed Link: 24429398

Variant Present in the following documents:

• NIHMS543078-supplement-supplement_1.pdf

View BVdb publication page

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