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

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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

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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

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<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

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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

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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

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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

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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

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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

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Oculofaciocardiodental syndrome caused by a novel BCOR variant by Tomoyo Yamashita, Junko Hotta, Yukiko Jogu, Eri Sakai, Chie Ono, Haruka Bamba, Hisato Suzuki, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Yorifuji, Takashi Hamazaki, Toshiyuki Seto

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A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2 by Saki Saeki, Takashi Enokizono, Kazuo Imagawa, Hiroko Fukushima, Daigo Kajikawa, Aiko Sakai, Mai Tanaka, Tatsuyuki Ohto, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kosaki Kenjiro, Hidetoshi Takada

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Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration by Mamiko Yamada, Kazuhiro Maeta, Hisato Suzuki, Ryo Kurosawa, Toshiki Takenouchi, Tomonari Awaya, Masahiko Ajiro, Atsuko Takeuchi, Hisahide Nishio, Masatoshi Hagiwara, Fuyuki Miya, Masafumi Matsuo, Kenjiro Kosaki

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TET2 Variants in Japanese Patients With Pulmonary Arterial HypertensionNovel Teaching Points by Takahiro Hiraide, MD, Hisato Suzuki, MD, Yoshiki Shinya, MD, Mizuki Momoi, MD, Takumi Inami, MD, Yoshinori Katsumata, MD, Keiichi Fukuda, MD, Kenjiro Kosaki, MD, Masaharu Kataoka, MD

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