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: KMT2C: 638C>T; Thr213Ile

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: MLL3: T213I

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.

American Journal Of Human Genetics

Mutoh, Hiroki H; Kato, Mitsuhiro M; Akita, Tenpei T; Shibata, Takuma T; Wakamoto, Hiroyuki H; Ikeda, Hiroko H; Kitaura, Hiroki H; Aoto, Kazushi K; Nakashima, Mitsuko M; Wang, Tianying T; Ohba, Chihiro C; Miyatake, Satoko S; Miyake, Noriko N; Kakita, Akiyoshi A; Miyake, Kensuke K; Fukuda, Atsuo A; Matsumoto, Naomichi N; Saitsu, Hirotomo H

Publication Date: 2018-02-01

Variant appearance in text: KMT2C: 638C>T; Thr213Ile

PubMed Link: 29394991

Variant Present in the following documents:

• Main text

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