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: KMT2D: 6114G>A; Trp2038Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research

Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG

Publication Date: 2021-05

Variant appearance in text: KMT2D: W2038*

PubMed Link: 33428330

Variant Present in the following documents:

• CJP2-7-243-s002.xlsx, sheet 1

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Adult-type granulosa cell tumor of the ovary: a FOXL2-centric disease.

The Journal Of Pathology. Clinical Research

Pilsworth, Jessica A JA; Cochrane, Dawn R DR; Neilson, Samantha J SJ; Moussavi, Bahar H BH; Lai, Daniel D; Munzur, Aslı D AD; Senz, Janine J; Wang, Yi Kan YK; Zareian, Sina S; Bashashati, Ali A; Wong, Adele A; Keul, Jacqueline J; Staebler, Annette A; van Meurs, Hannah S HS; Horlings, Hugo M HM; Kommoss, Stefan S; Kommoss, Friedrich F; Oliva, Esther E; Färkkilä, Anniina Em AE; Gilks, Blake B; Huntsman, David G DG

Publication Date: 2021-05

Variant appearance in text: KMT2D: W2038*

PubMed Link: 33428330

Variant Present in the following documents:

• CJP2-7-243-s002.xlsx, sheet 1

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DNAJB1-PRKACA fusions occur in oncocytic pancreatic and biliary neoplasms and are not specific for fibrolamellar hepatocellular carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Vyas, Monika M; Hechtman, Jaclyn F JF; Zhang, Yanming Y; Benayed, Ryma R; Yavas, Aslihan A; Askan, Gokce G; Shia, Jinru J; Klimstra, David S DS; Basturk, Olca O

Publication Date: 2020-04

Variant appearance in text: KMT2D: W2038X

PubMed Link: 31676785

Variant Present in the following documents:

• Main text
• nihms-1540840.pdf

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