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: PTEN: 35A>C; Asn12Thr

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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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1085308044

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

View BVdb publication page

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Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: rs1085308044

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nature Communications

Post, Kathryn L KL; Belmadani, Manuel M; Ganguly, Payel P; Meili, Fabian F; Dingwall, Riki R; McDiarmid, Troy A TA; Meyers, Warren M WM; Herrington, Caitlin C; Young, Barry P BP; Callaghan, Daniel B DB; Rogic, Sanja S; Edwards, Matthew M; Niciforovic, Ana A; Cau, Alessandro A; Rankin, Catharine H CH; O'Connor, Timothy P TP; Bamji, Shernaz X SX; Loewen, Christopher J R CJR; Allan, Douglas W DW; Pavlidis, Paul P; Haas, Kurt K

Publication Date: 2020-04-29

Variant appearance in text: PTEN: N12T

PubMed Link: 32350270

Variant Present in the following documents:

• 41467_2020_Article_15943.pdf

View BVdb publication page

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Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.

Jama Network Open

Yehia, Lamis L; Seyfi, Marilyn M; Niestroj, Lisa-Marie LM; Padmanabhan, Roshan R; Ni, Ying Y; Frazier, Thomas W TW; Lal, Dennis D; Eng, Charis C

Publication Date: 2020-01-03

Variant appearance in text: PTEN: Asn12Thr

PubMed Link: 32003824

Variant Present in the following documents:

• Main text

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: PTEN: N12T

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

Journal Of Medical Genetics

Spinelli, Laura L; Black, Fiona M FM; Berg, Jonathan N JN; Eickholt, Britta J BJ; Leslie, Nicholas R NR

Publication Date: 2015-02

Variant appearance in text: PTEN: N12T

PubMed Link: 25527629

Variant Present in the following documents:

• jmedgenet-2014-102803-s1.pdf

View BVdb publication page

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Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

Molecular Psychiatry

Frazier, T W TW; Embacher, R R; Tilot, A K AK; Koenig, K K; Mester, J J; Eng, C C

Publication Date: 2015-09

Variant appearance in text: PTEN: Asn12Thr

PubMed Link: 25288137

Variant Present in the following documents:

View BVdb publication page

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