Publications:

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: VHL: 500G>C; Arg167Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Nature Communications

Bakouny, Ziad Z; Braun, David A DA; Shukla, Sachet A SA; Pan, Wenting W; Gao, Xin X; Hou, Yue Y; Flaifel, Abdallah A; Tang, Stephen S; Bosma-Moody, Alice A; He, Meng Xiao MX; Vokes, Natalie N; Nyman, Jackson J; Xie, Wanling W; Nassar, Amin H AH; Abou Alaiwi, Sarah S; Flippot, Ronan R; Bouchard, Gabrielle G; Steinharter, John A JA; Nuzzo, Pier Vitale PV; Ficial, Miriam M; Sant'Angelo, Miriam M; Forman, Juliet J; Berchuck, Jacob E JE; Dudani, Shaan S; Bi, Kevin K; Park, Jihye J; Camp, Sabrina S; Sticco-Ivins, Maura M; Hirsch, Laure L; Baca, Sylvan C SC; Wind-Rotolo, Megan M; Ross-Macdonald, Petra P; Sun, Maxine M; Lee, Gwo-Shu Mary GM; Chang, Steven L SL; Wei, Xiao X XX; McGregor, Bradley A BA; Harshman, Lauren C LC; Genovese, Giannicola G; Ellis, Leigh L; Pomerantz, Mark M; Hirsch, Michelle S MS; Freedman, Matthew L ML; Atkins, Michael B MB; Wu, Catherine J CJ; Ho, Thai H TH; Linehan, W Marston WM; McDermott, David F DF; Heng, Daniel Y C DYC; Viswanathan, Srinivas R SR; Signoretti, Sabina S; Van Allen, Eliezer M EM; Choueiri, Toni K TK

Publication Date: 2021-02-05

Variant appearance in text: VHL: R167P

PubMed Link: 33547292

Variant Present in the following documents:

• 41467_2021_21068_MOESM4_ESM.xlsx, sheet 6

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Algorithmic assessment of missense mutation severity in the Von-Hippel Lindau protein.

Plos One

Fields, Francisco R FR; Suresh, Niraja N; Hiller, Morgan M; Freed, Stefan D SD; Haldar, Kasturi K; Lee, Shaun W SW

Publication Date: 2020

Variant appearance in text: VHL: R167P

PubMed Link: 33151962

Variant Present in the following documents:

• Main text
• pone.0234100.pdf

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Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine

Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y

Publication Date: 2020-08-01

Variant appearance in text: VHL: 500G>C; R167P

PubMed Link: 32738923

Variant Present in the following documents:

• 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1

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Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology

Jonasch, E E; McCutcheon, I E IE; Waguespack, S G SG; Wen, S S; Davis, D W DW; Smith, L A LA; Tannir, N M NM; Gombos, D S DS; Fuller, G N GN; Matin, S F SF

Publication Date: 2011-12

Variant appearance in text: VHL: R167P

PubMed Link: 22105611

Variant Present in the following documents:

• Main text

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