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: SYNJ1: 512G>A; Trp171Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro-Caribbean individual.

Molecular Genetics & Genomic Medicine

Maj, Mary M; Taylor, Christie L CL; Landau, Kevin K; Toriello, Helga V HV; Li, Dong D; Bhoj, Elizabeth J EJ; Hakonarson, Hakon H; Nelson, Beverly B; Gluschitz, Sarah S; Walker, Ruth H RH; Sobering, Andrew K AK

Publication Date: 2022-09-23

Variant appearance in text: SYNJ1: 512G>A; Trp171*

PubMed Link: 36148638

Variant Present in the following documents:

• MGG3-11-e2064-s001.xlsx, sheet 1

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Secondary resistance to anti-EGFR therapy by transcriptional reprogramming in patient-derived colorectal cancer models.

Genome Medicine

Vangala, Deepak D; Ladigan, Swetlana S; Liffers, Sven T ST; Noseir, Soha S; Maghnouj, Abdelouahid A; Götze, Tina-Maria TM; Verdoodt, Berlinda B; Klein-Scory, Susanne S; Godfrey, Laura L; Zowada, Martina K MK; Huerta, Mario M; Edelstein, Daniel L DL; de Villarreal, Jaime Martinez JM; Marqués, Miriam M; Kumbrink, Jörg J; Jung, Andreas A; Schiergens, Tobias T; Werner, Jens J; Heinemann, Volker V; Stintzing, Sebastian S; Lindoerfer, Doris D; Mansmann, Ulrich U; Pohl, Michael M; Teschendorf, Christian C; Bernhardt, Christiane C; Wolters, Heiner H; Stern, Josef J; Usta, Selami S; Viebahn, Richard R; Admard, Jacob J; Casadei, Nicolas N; Fröhling, Stefan S; Ball, Claudia R CR; Siveke, Jens T JT; Glimm, Hanno H; Tannapfel, Andrea A; Schmiegel, Wolff W; Hahn, Stephan A SA

Publication Date: 2021-07-16

Variant appearance in text: SYNJ1: 512G>A

PubMed Link: 34271981

Variant Present in the following documents:

• 13073_2021_926_MOESM5_ESM.xlsx, sheet 36
• 13073_2021_926_MOESM5_ESM.xlsx, sheet 35
• 13073_2021_926_MOESM5_ESM.xlsx, sheet 33

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New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Current Neurology And Neuroscience Reports

Puschmann, Andreas A

Publication Date: 2017-09

Variant appearance in text: SYNJ1: 512G>A

PubMed Link: 28733970

Variant Present in the following documents:

• Main text
• 11910_2017_Article_780.pdf

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