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: KMT2C: 7550C>G; Ser2517Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.

Pediatric Reports

Siano, Maria Anna MA; De Maggio, Ilaria I; Petillo, Roberta R; Cocciadiferro, Dario D; Agolini, Emanuele E; Majolo, Massimo M; Novelli, Antonio A; Della Monica, Matteo M; Piscopo, Carmelo C

Publication Date: 2022-03-11

Variant appearance in text: KMT2C: 7550C>G

PubMed Link: 35324822

Variant Present in the following documents:

• pediatrrep-14-00019.pdf

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Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.

Plos Genetics

Koemans, Tom S TS; Kleefstra, Tjitske T; Chubak, Melissa C MC; Stone, Max H MH; Reijnders, Margot R F MRF; de Munnik, Sonja S; Willemsen, Marjolein H MH; Fenckova, Michaela M; Stumpel, Connie T R M CTRM; Bok, Levinus A LA; Sifuentes Saenz, Margarita M; Byerly, Kyna A KA; Baughn, Linda B LB; Stegmann, Alexander P A APA; Pfundt, Rolph R; Zhou, Huiqing H; van Bokhoven, Hans H; Schenck, Annette A; Kramer, Jamie M JM

Publication Date: 2017-10

Variant appearance in text: KMT2C: 7550C>G; Ser2517*

PubMed Link: 29069077

Variant Present in the following documents:

• Main text
• pgen.1006864.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: MLL3: S2517*

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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