Publications:

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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: KDR: 3439C>T; Pro1147Ser

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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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: KDR: 3439C>T; P1147S; rs121917766

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

Genome Medicine

Zhu, Na N; Swietlik, Emilia M EM; Welch, Carrie L CL; Pauciulo, Michael W MW; Hagen, Jacob J JJ; Zhou, Xueya X; Guo, Yicheng Y; Karten, Johannes J; Pandya, Divya D; Tilly, Tobias T; Lutz, Katie A KA; Martin, Jennifer M JM; Treacy, Carmen M CM; Rosenzweig, Erika B EB; Krishnan, Usha U; Coleman, Anna W AW; Gonzaga-Jauregui, Claudia C; Lawrie, Allan A; Trembath, Richard C RC; Wilkins, Martin R MR; , ; , ; , ; , ; Morrell, Nicholas W NW; Shen, Yufeng Y; Gräf, Stefan S; Nichols, William C WC; Chung, Wendy K WK

Publication Date: 2021-05-10

Variant appearance in text: KDR: 3439C>T

PubMed Link: 33971972

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: KDR: Pro1147Ser

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.

Cancers

Quezada Urban, Rosalía R; Díaz Velásquez, Clara Estela CE; Gitler, Rina R; Rojo Castillo, María Patricia MP; Sirota Toporek, Max M; Figueroa Morales, Andrea A; Moreno García, Oscar O; García Esquivel, Lizbeth L; Torres Mejía, Gabriela G; Dean, Michael M; Delgado Enciso, Iván I; Ochoa Díaz López, Héctor H; Rodríguez León, Fernando F; Jan, Virginia V; Garzón Barrientos, Víctor Hugo VH; Ruiz Flores, Pablo P; Espino Silva, Perla Karina PK; Haro Santa Cruz, Jorge J; Martínez Gregorio, Héctor H; Rojas Jiménez, Ernesto Arturo EA; Romero Cruz, Luis Enrique LE; Méndez Catalá, Claudia Fabiola CF; Álvarez Gómez, Rosa María RM; Fragoso Ontiveros, Verónica V; Herrera, Luis Alonso LA; Romieu, Isabelle I; Terrazas, Luis Ignacio LI; Chirino, Yolanda Irasema YI; Frecha, Cecilia C; Oliver, Javier J; Perdomo, Sandra S; Vaca Paniagua, Felipe F

Publication Date: 2018-09-27

Variant appearance in text: KDR: P1147S

PubMed Link: 30262796

Variant Present in the following documents:

• cancers-10-00361-s001.pdf

View BVdb publication page

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One reporter for in-cell activity profiling of majority of protein kinase oncogenes.

Elife

Gudernova, Iva I; Foldynova-Trantirkova, Silvie S; Ghannamova, Barbora El BE; Fafilek, Bohumil B; Varecha, Miroslav M; Balek, Lukas L; Hruba, Eva E; Jonatova, Lucie L; Jelinkova, Iva I; Kunova Bosakova, Michaela M; Trantirek, Lukas L; Mayer, Jiri J; Krejci, Pavel P

Publication Date: 2017-02-15

Variant appearance in text: VEGFR2: P1147S

PubMed Link: 28199182

Variant Present in the following documents:

• elife-21536-supp3.xlsx, sheet 1

View BVdb publication page

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Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Plos Medicine

Hamblin, Angela A; Wordsworth, Sarah S; Fermont, Jilles M JM; Page, Suzanne S; Kaur, Kulvinder K; Camps, Carme C; Kaisaki, Pamela P; Gupta, Avinash A; Talbot, Denis D; Middleton, Mark M; Henderson, Shirley S; Cutts, Anthony A; Vavoulis, Dimitrios V DV; Housby, Nick N; Tomlinson, Ian I; Taylor, Jenny C JC; Schuh, Anna A

Publication Date: 2017-02

Variant appearance in text: KDR: P1147S

PubMed Link: 28196074

Variant Present in the following documents:

• pmed.1002230.s004.xlsx, sheet 2

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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: KDR: P1147S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: KDR: P1147S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Cell

Creixell, Pau P; Schoof, Erwin M EM; Simpson, Craig D CD; Longden, James J; Miller, Chad J CJ; Lou, Hua Jane HJ; Perryman, Lara L; Cox, Thomas R TR; Zivanovic, Nevena N; Palmeri, Antonio A; Wesolowska-Andersen, Agata A; Helmer-Citterich, Manuela M; Ferkinghoff-Borg, Jesper J; Itamochi, Hiroaki H; Bodenmiller, Bernd B; Erler, Janine T JT; Turk, Benjamin E BE; Linding, Rune R

Publication Date: 2015-09-24

Variant appearance in text: KDR: P1147S

PubMed Link: 26388441

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KDR: P1147S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Plos Genetics

Couthouis, Julien J; Raphael, Alya R AR; Daneshjou, Roxana R; Gitler, Aaron D AD

Publication Date: 2014-10

Variant appearance in text: KDR: P1147S

PubMed Link: 25299611

Variant Present in the following documents:

• pgen.1004704.s005.xlsx, sheet 1

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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: P1147S; rs121917766

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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Update on the molecular genetics of vascular anomalies.

Lymphatic Research And Biology

Wang, Qing K QK

Publication Date: 2005

Variant appearance in text: VEGFR2: P1147S

PubMed Link: 16379592

Variant Present in the following documents:

• Main text

View BVdb publication page

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