Publications:

---

Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer

Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T

Publication Date: 2021-10

Variant appearance in text: TNNT2: 305G>T; Arg102Leu

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

---

Prognostic implications of troponin T variations in inherited cardiomyopathies using systems biology.

Npj Genomic Medicine

Shakur, Rameen R; Ochoa, Juan Pablo JP; Robinson, Alan J AJ; Niroula, Abhishek A; Chandran, Aneesh A; Rahman, Taufiq T; Vihinen, Mauno M; Monserrat, Lorenzo L

Publication Date: 2021-06-14

Variant appearance in text: rs121964856

PubMed Link: 34127679

Variant Present in the following documents:

• 41525_2021_204_MOESM1_ESM.pdf

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TNNT2: R102L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.

Scientific Reports

Mak, Timothy Shin Heng TSH; Lee, Yee-Ki YK; Tang, Clara S CS; Hai, JoJo S H JSH; Ran, Xinru X; Sham, Pak-Chung PC; Tse, Hung-Fat HF

Publication Date: 2018-07-18

Variant appearance in text: rs121964856

PubMed Link: 30022097

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29263.pdf

View BVdb publication page

---

Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Plos One

Forleo, Cinzia C; D'Erchia, Anna Maria AM; Sorrentino, Sandro S; Manzari, Caterina C; Chiara, Matteo M; Iacoviello, Massimo M; Guaricci, Andrea Igoren AI; De Santis, Delia D; Musci, Rita Leonarda RL; La Spada, Antonino A; Marangelli, Vito V; Pesole, Graziano G; Favale, Stefano S

Publication Date: 2017

Variant appearance in text: rs121964856

PubMed Link: 28750076

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TNNT2: R102L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---