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: MLH1: 790+1G>T

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Suppressors and activators of JAK-STAT signaling at diagnosis and relapse of acute lymphoblastic leukemia in Down syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Schwartzman, Omer O; Savino, Angela Maria AM; Gombert, Michael M; Palmi, Chiara C; Cario, Gunnar G; Schrappe, Martin M; Eckert, Cornelia C; von Stackelberg, Arend A; Huang, Jin-Yan JY; Hameiri-Grossman, Michal M; Avigad, Smadar S; Te Kronnie, Geertruy G; Geron, Ifat I; Birger, Yehudit Y; Rein, Avigail A; Zarfati, Giulia G; Fischer, Ute U; Mukamel, Zohar Z; Stanulla, Martin M; Biondi, Andrea A; Cazzaniga, Giovanni G; Vetere, Amedeo A; Wagner, Bridget K BK; Chen, Zhu Z; Chen, Sai-Juan SJ; Tanay, Amos A; Borkhardt, Arndt A; Izraeli, Shai S

Publication Date: 2017-05-16

Variant appearance in text: rs267607789

PubMed Link: 28461505

Variant Present in the following documents:

• Main text

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: MLH1: 790+1G>T

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

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Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.

Clinical Epigenetics

Sloane, Mathew A MA; Hesson, Luke B LB; Nunez, Andrea C AC; Thompson, Bryony A BA; Ward, Robyn L RL

Publication Date: 2014

Variant appearance in text: MLH1: 790+1G>T

PubMed Link: 25530820

Variant Present in the following documents:

• 13148_2014_Article_32.pdf

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