Publications:

Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: POMC: Asp53Gly; rs28932470

PubMed Link: 35504881

Variant Present in the following documents:

• 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1

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RARE POMC MUTATION IN A PATIENT WITH MYOTONIC DYSTROPHY TYPE 1 AND ADRENOCORTICOTROPIN HYPERRESPONSE TO CORTICOTROPIN-RELEASING HORMONE.

Aace Clinical Case Reports

Cantara, Silvia S; Chiofalo, Francesco F; Ciuoli, Cristina C; Marzocchi, Carlotta C; Dotti, Maria Teresa MT; Carla, Maccora M; Castagna, Maria Grazia MG; Giannini, Fabio F

Publication Date: 2019

Variant appearance in text: ACTH: D53G; rs28932470

PubMed Link: 31967018

Variant Present in the following documents:

• Main text

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: POMC: D53G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Identification of POMC exonic variants associated with substance dependence and body mass index.

Plos One

Wang, Fan F; Gelernter, Joel J; Kranzler, Henry R HR; Zhang, Huiping H

Publication Date: 2012

Variant appearance in text: POMC: D53G; rs28932470

PubMed Link: 23028917

Variant Present in the following documents:

• Main text
• pone.0045300.pdf

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