Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders by Mamiko Yamada, Hisato Suzuki, Yuichi Shiraishi, Kenjiro Kosaki

Get full text

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency by Eri Ogawa, Takako Hishiki, Noriyo Hayakawa, Hisato Suzuki, Kenjiro Kosaki, Makoto Suematsu, Toshiki Takenouchi

Get full text

PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing by Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada, Kenjiro Kosaki, Masatoshi Hagiwara

Get full text

Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report by Shogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Akira Tamaoka

Get full text

<i>RNF213</i>-Associated Vascular Disease: A Concept Unifying Various Vasculopathies by Takahiro Hiraide, Hisato Suzuki, Mizuki Momoi, Yoshiki Shinya, Keiichi Fukuda, Kenjiro Kosaki, Masaharu Kataoka

Get full text

Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers–Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate Epimerase by Yuji Yoshikawa, Takashi Koto, Tomoka Ishida, Tomoko Uehara, Mamiko Yamada, Kenjiro Kosaki, Makoto Inoue

Get full text

Precocious puberty in a case of Simpson–Golabi–Behmel syndrome with a de novo 240-kb deletion including GPC3 by Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi

Get full text

Mutation of <i>PTPN11</i> (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to <i>BRAP</i> Mutation by Ritsuko Harigai, Ryo Sato, Chikako Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Takanori Hirose, Hideyuki Saya, Yoshimi Arima

Get full text

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intelle... by Mamiko Yamada, Yuichi Shiraishi, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Chihiro Abe‐Hatano, Kenji Kurosawa, Kenjiro Kosaki

Get full text

An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions by Mika Hayakawa, Tomoyasu Matsubara, Yoko Mochizuki, Chisen Takeuchi, Motoyuki Minamitani, Masayuki Imai, Kenjiro Kosaki, Tomio Arai, Shigeo Murayama

Get full text

Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma by Shoko Onodera, Nana Morita, Yuriko Nakamura, Shinichi Takahashi, Kazuhiko Hashimoto, Takeshi Nomura, Akira Katakura, Kenjiro Kosaki, Toshifumi Azuma

Get full text

De novo NSF mutations cause early infantile epileptic encephalopathy by Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano‐Shimizu, Toshiki Takenouchi

Get full text

miR-514a promotes neuronal development in human iPSC-derived neurons by Yuichi Akaba, Yuichi Akaba, Yuichi Akaba, Satoru Takahashi, Keiichiro Suzuki, Keiichiro Suzuki, Keiichiro Suzuki, Kenjiro Kosaki, Keita Tsujimura, Keita Tsujimura

Get full text

Familial pancreatic cancer with PALB2 and NBN pathogenic variants: a case report by Kodai Abe, Arisa Ueki, Yusaku Urakawa, Minoru Kitago, Tomoko Yoshihama, Yoshiko Nanki, Yuko Kitagawa, Daisuke Aoki, Kenjiro Kosaki, Akira Hirasawa

Get full text

Peripheral pulmonary stenosis with Noonan syndrome treated by balloon pulmonary angioplasty by Seien Ko, Jin Komuro, Yoshinori Katsumata, Yasuyuki Shiraishi, Takashi Kawakami, Yoshitake Yamada, Shinsuke Yuasa, Takashi Kohno, Kenjiro Kosaki, Keiichi Fukuda

Get full text

Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data by Yuichi Shiraishi, Ai Okada, Kenichi Chiba, Asuka Kawachi, Ikuko Omori, Raúl Nicolás Mateos, Naoko Iida, Hirofumi Yamauchi, Kenjiro Kosaki, Akihide Yoshimi

Get full text

Virucidal Effect of the Mesoscopic Structure of CAC-717 on Severe Acute Respiratory Syndrome Coronavirus-2 by Takashi Yokoyama, Tomoyasu Nishimura, Yoshifumi Uwamino, Kenjiro Kosaki, Koichi Furusaki, Rumiko Onishi, Takashi Onodera, Makoto Haritani, Katsuaki Sugiura, Rikio Kirisawa, Naoki Hasegawa

Get full text

X ‐linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review by Aoi Kuroda, Ho Namkoong, Eri Iwami, Akihiro Tsutsumi, Takahiro Nakajima, Hajime Shinoda, Yusaku Katada, Jiro Iimura, Hisato Suzuki, Kenjiro Kosaki, Takeshi Terashima

Get full text

TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension by Yoshiki Shinya, Takahiro Hiraide, Mizuki Momoi, Shinichi Goto, Hisato Suzuki, Yoshinori Katsumata, Yutaka Kurebayashi, Jin Endo, Motoaki Sano, Keiichi Fukuda, Kenjiro Kosaki, Masaharu Kataoka

Get full text

Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome by Taishi Fujisawa, Yoshiyasu Aizawa, Yoshinori Katsumata, Kensuke Kimura, Kenji Hashimoto, Terumasa Yamashita, Hiroshi Miyama, Takehiro Kimura, Kenjiro Kosaki, Seiji Takatsuki, Wataru Shimizu, Keiichi Fukuda

Get full text