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: NF1: 183delT; Leu62fs

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

View BVdb publication page

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.

Cancers

Sorrentino, Ugo U; Bellonzi, Silvia S; Mozzato, Chiara C; Brasson, Valeria V; Toldo, Irene I; Parrozzani, Raffaele R; Clementi, Maurizio M; Cassina, Matteo M; Trevisson, Eva E

Publication Date: 2021-12-17

Variant appearance in text: NF1: 185delT; Leu62*

PubMed Link: 34944956

Variant Present in the following documents:

• cancers-13-06336.pdf

View BVdb publication page

Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene.

Genes

Cunha, Karin Soares KS; Oliveira, Nathalia Silva NS; Fausto, Anna Karoline AK; de Souza, Carolina Cruz CC; Gros, Audrey A; Bandres, Thomas T; Idrissi, Yamina Y; Merlio, Jean-Philippe JP; de Moura Neto, Rodrigo Soares RS; Silva, Rosane R; Geller, Mauro M; Cappellen, David D

Publication Date: 2016-12-17

Variant appearance in text: NF1: 185delT; L62*

PubMed Link: 27999334

Variant Present in the following documents:

• Main text

View BVdb publication page