Publications:

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: TG: 1281delG

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: TG: 1283delG

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

View BVdb publication page

The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens

Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C

Publication Date: 2018-09

Variant appearance in text: TG: 1283delG; Gly428fs

PubMed Link: 30252911

Variant Present in the following documents:

• ppat.1007315.s003.xlsx, sheet 9

View BVdb publication page

Whole exome sequencing of independent lung adenocarcinoma, lung squamous cell carcinoma, and malignant peritoneal mesothelioma: A case report.

Medicine

Vanni, Irene I; Coco, Simona S; Bonfiglio, Silvia S; Cittaro, Davide D; Genova, Carlo C; Biello, Federica F; Mora, Marco M; Rossella, Valeria V; Dal Bello, Maria Giovanna MG; Truini, Anna A; Banelli, Barbara B; Lazarevic, Dejan D; Alama, Angela A; Rijavec, Erika E; Barletta, Giulia G; Grossi, Francesco F

Publication Date: 2016-11

Variant appearance in text: TG: 1282delG

PubMed Link: 27902597

Variant Present in the following documents:

• md-95-e5447-s002.xlsx, sheet 1

View BVdb publication page