Publications:

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Nature Communications

Bernkopf, Marie M; Abdullah, Ummi B UB; Bush, Stephen J SJ; Wood, Katherine A KA; Ghaffari, Sahar S; Giannoulatou, Eleni E; Koelling, Nils N; Maher, Geoffrey J GJ; Thibaut, Loïc M LM; Williams, Jonathan J; Blair, Edward M EM; Kelly, Fiona Blanco FB; Bloss, Angela A; Burkitt-Wright, Emma E; Canham, Natalie N; Deng, Alexander T AT; Dixit, Abhijit A; Eason, Jacqueline J; Elmslie, Frances F; Gardham, Alice A; Hay, Eleanor E; Holder, Muriel M; Homfray, Tessa T; Hurst, Jane A JA; Johnson, Diana D; Jones, Wendy D WD; Kini, Usha U; Kivuva, Emma E; Kumar, Ajith A; Lees, Melissa M MM; Leitch, Harry G HG; Morton, Jenny E V JEV; Németh, Andrea H AH; Ramachandrappa, Shwetha S; Saunders, Katherine K; Shears, Deborah J DJ; Side, Lucy L; Splitt, Miranda M; Stewart, Alison A; Stewart, Helen H; Suri, Mohnish M; Clouston, Penny P; Davies, Robert W RW; Wilkie, Andrew O M AOM; Goriely, Anne A

Publication Date: 2023-02-15

Variant appearance in text: TSC2: 4712A>G; Tyr1571Cys

PubMed Link: 36792598

Variant Present in the following documents:

• 41467_2023_36606_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

mTORC1 Is Not Principally Involved in the Induction of Human Endotoxin Tolerance.

Frontiers In Immunology

Ludwig, Kristin K; Husain, Ralf A RA; Rubio, Ignacio I

Publication Date: 2020

Variant appearance in text: TSC2: 4712A>G

PubMed Link: 32849516

Variant Present in the following documents:

• Main text
• fimmu-11-01515.pdf

View BVdb publication page

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: Y1571C

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights

Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE

Publication Date: 2010-10-11

Variant appearance in text: TSC2: Y1571C

PubMed Link: 20981267

Variant Present in the following documents:

• BBI-4-supplementary.xls, sheet 4

View BVdb publication page