Publications:

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Pulmonary Hypertension Associated Genetic Variants in Sarcoidosis Associated Pulmonary Hypertension.

Diagnostics (Basel, Switzerland)

Groen, Karlijn K; Huitema, Marloes P MP; van der Vis, Joanne J JJ; Post, Marco C MC; Grutters, Jan C JC; Baughman, Robert P RP; van Moorsel, Coline H M CHM

Publication Date: 2022-10-21

Variant appearance in text: KDR: 170G>C; R57T; rs139047809

PubMed Link: 36292254

Variant Present in the following documents:

• diagnostics-12-02564.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: KDR: R57T

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports

Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P

Publication Date: 2019-11-19

Variant appearance in text: KDR: 170G>C; R57T

PubMed Link: 31745173

Variant Present in the following documents:

• 41598_2019_53636_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: KDR: 170G>C; Arg57Thr; rs139047809

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 8

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: KDR: R57T; rs139047809

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: KDR: R57T; rs139047809

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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High accuracy mutation detection in leukemia on a selected panel of cancer genes.

Plos One

Kalender Atak, Zeynep Z; De Keersmaecker, Kim K; Gianfelici, Valentina V; Geerdens, Ellen E; Vandepoel, Roel R; Pauwels, Daphnie D; Porcu, Michaël M; Lahortiga, Idoya I; Brys, Vanessa V; Dirks, Willy G WG; Quentmeier, Hilmar H; Cloos, Jacqueline J; Cuppens, Harry H; Uyttebroeck, Anne A; Vandenberghe, Peter P; Cools, Jan J; Aerts, Stein S

Publication Date: 2012

Variant appearance in text: KDR: R57T

PubMed Link: 22675565

Variant Present in the following documents:

• pone.0038463.s007.xlsx, sheet 1

View BVdb publication page

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