Hisato Suzuki

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 38

Top Topics

Intellectual Disability

Dna Methylation

Top Venues

American journal of medical genetics. Part A

Human genome variation

Congenital anomalies

Human molecular genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Mamiko Yamada, Seiji Mizuno, Mie Inaba, Tomoko Uehara, Hidehito Inagaki, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Hiroki Kurahashi, Kenjiro Kosaki
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly. American journal of medical genetics. Part A 194 (8) (2024)
Shuya Kaneko, Fumiaki Sakura, Kay Tanita, Asami Shimbo, Ryusuke Nambu, Masashi Yoshida, Shuichiro Umetsu, Ayano Inui, Chizuru Okada, Miyuki Tsumura, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Osamu Ohara, Masaki Shimizu, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy advances 3 (1) (2023)
Sakura Kawahara, Kazuo Imagawa, Hisato Suzuki, Tatsuyuki Ohto, Hidetoshi Takada
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1. Pediatrics international : official journal of the Japan Pediatric Society 65 (1) (2023)
Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Kiyotaka Kosugiyama, Takeshi Ujiie, Hidefumi Tonoki, Kenjiro Kosaki
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption. Congenital anomalies (2023)
Shuya Kaneko, Fumiaki Sakura, Kay Tanita, Asami Shimbo, Ryusuke Nambu, Masashi Yoshida, Shuichiro Umetsu, Ayano Inui, Chizuru Okada, Miyuki Tsumura, Mamiko Yamada, Hisato Suzuki, Kenjiro Kosaki, Osamu Ohara, Masaki Shimizu, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function. Immunotherapy advances 3 (1) (2023)
Mamiko Yamada, Hisato Suzuki, Fuyuki Miya, Toshiki Takenouchi, Kenjiro Kosaki
Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of TLL1 as a causative gene for atrial septal defect. American journal of medical genetics. Part A 188 (8) (2022)
Hisato Suzuki, Kana Aoki, Kenji Kurosawa, Kazuo Imagawa, Tatsuyuki Ohto, Mamiko Yamada, Toshiki Takenouchi, Kenjiro Kosaki, Tohru Ishitani
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence. Human molecular genetics 31 (22) (2022)
Takahiro Hiraide, Hisato Suzuki, Mizuki Momoi, Yoshiki Shinya, Keiichi Fukuda, Kenjiro Kosaki, Masaharu Kataoka
RNF213 -Associated Vascular Disease: A Concept Unifying Various Vasculopathies. Life (Basel, Switzerland) 12 (4) (2022)
Keisuke Watanabe, Atsuko Noguchi, Ikuko Takahashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Tsutomu Takahashi
Precocious puberty in a case of Simpson-Golabi-Behmel syndrome with a de novo 240-kb deletion including GPC3. Human genome variation 9 (1) (2022)
Hisato Suzuki, Simo Li, Tomoharu Tokutomi, Chisen Takeuchi, Miyuki Takahashi, Mamiko Yamada, Hironobu Okuno, Fuyuki Miya, Toshiki Takenouchi, Hironao Numabe, Kenjiro Kosaki, Toshio Ohshima
De novo non-synonymous DPYSL2 (CRMP2) variants in two patients with intellectual disabilities and documentation of functional relevance through zebrafish rescue and cellular transfection experiments. Human molecular genetics (2022)
Mamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, Atsuko Noguchi, Fuyuki Miya, Tsutomu Takahashi, Kenjiro Kosaki
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report. BMC neurology 22 (1) (2022)
Yurie Ogura, Tomoko Uehara, Kota Ujibe, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Hiromi Hirata
The p.Thr395Met missense variant of NFIA found in a patient with intellectual disability is a defective variant. American journal of medical genetics. Part A 188 (4) (2022)
Tomoko Uehara, Rikako Sanuki, Yurie Ogura, Atsushi Yokoyama, Takeshi Yoshida, Hiroshi Futagawa, Hiroshi Yoshihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kohei Matsubara, Hiromi Hirata, Kenjiro Kosaki, Toshiyuki Takano-Shimizu
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles. American journal of medical genetics. Part A 185 (7) (2021)
Mamiko Yamada, Masae Ono, Tomohiro Ishii, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. American journal of medical genetics. Part A 185 (6) (2021)
Kojima-Ishii Kanako, Nana Sakakibara, Kei Murayama, Koji Nagatani, Satoshi Murata, Akira Otake, Yasutoshi Koga, Hisato Suzuki, Tomoko Uehara, Kenjiro Kosaki, Koh-Ichiro Yoshiura, Hiroyuki Mishima, Yuko Ichimiya, Yuichi Mushimoto, Tomoko Horinouchi, China Nagano, Tomohiko Yamamura, Kazumoto Iijima, Kandai Nozu
BCS1L mutations produce Fanconi syndrome with developmental disability. Journal of human genetics (2021)
Mamiko Yamada, Takeshi Arimitsu, Hisato Suzuki, Tomoru Miwa, Kenjiro Kosaki
Early diagnosis of lateral meningocele syndrome in an infant without neurological symptoms based on genomic analysis. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (2021)
Mamiko Yamada, Kazumi Kubota, Atsuro Uchida, Tatsuhiko Yagihashi, Masahito Kawasaki, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Hiroshi Kurosaka, Kenjiro Kosaki
Fork-shaped mandibular incisors as a novel phenotype of LRP5-associated disorder. American journal of medical genetics. Part A 185 (5) (2021)
Yuka Murofushi, Itaru Hayakawa, Yuichi Abe, Tatsuyuki Ohto, Kei Murayama, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki, Masaya Kubota
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy. Neuropediatrics (2021)
Mamiko Yamada, Michinori Funato, Goro Kondo, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Yoshiaki Sakamoto, Kenjiro Kosaki
Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant. Congenital anomalies 61 (6) (2021)
Mamiko Yamada, Hisato Suzuki, Taiki Shima, Tomoko Uehara, Kenjiro Kosaki
A patient with compound heterozygosity of SMPD4: Another example of utility of exome-based copy number analysis in autosomal recessive disorders. American journal of medical genetics. Part A (2021)
Rika Kosaki, Masaya Kubota, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes. American journal of medical genetics. Part A 182 (7) (2020)
Hisato Suzuki, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients. American journal of medical genetics. Part A 182 (11) (2020)
Yuto Kondo, Kohei Aoyama, Hisato Suzuki, Ayako Hattori, Ikumi Hori, Koichi Ito, Aya Yoshida, Mari Koroki, Kentaro Ueda, Kenjiro Kosaki, Shinji Saitoh
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes. Human genome variation 7 (2020)
Hisato Suzuki, Mie Inaba, Mamiko Yamada, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki, Motomichi Doi
Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures. American journal of medical genetics. Part A 185 (4) (2020)
Yohei Takeshita, Tatsuyuki Ohto, Takashi Enokizono, Mai Tanaka, Hisato Suzuki, Hiroko Fukushima, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada
Novel ARX mutation identified in infantile spasm syndrome patient. Human genome variation 7 (2020)
Katsuya Hirata, Nobuhiko Okamoto, Chihiro Ichikawa, Shouta Inoue, Masatoshi Nozaki, Kimihiko Banno, Toshiki Takenouchi, Hisato Suzuki, Kenjiro Kosaki
Severe course with lethal hepatocellular injury and skeletal muscular dysgenesis in a neonate with infantile liver failure syndrome type 1 caused by novel LARS1 mutations. American journal of medical genetics. Part A 185 (3) (2020)
Yuichi Ueno, Takashi Enokizono, Hiroko Fukushima, Tatsuyuki Ohto, Kazuo Imagawa, Mai Tanaka, Aiko Sakai, Hisato Suzuki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki, Hidetoshi Takada
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay. Human genome variation 6 (2019)
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
A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2. Clinical case reports 7 (11) (2019)
Hisato Suzuki, Toshiki Takenouchi, Tomoko Uehara, Satoshi Takasago, Satoshi Ihara, Hiroshi Yoshihashi, Kenjiro Kosaki
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers. American journal of medical genetics. Part A 179 (8) (2019)
Hisato Suzuki, Takeshi Yoshida, Naoya Morisada, Tomoko Uehara, Kenjiro Kosaki, Katsunori Sato, Kohei Matsubara, Toshiyuki Takano-Shimizu, Toshiki Takenouchi
De novo NSF mutations cause early infantile epileptic encephalopathy. Annals of clinical and translational neurology 6 (11) (2019)
Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Hiroyuki Fukushima, Naoya Morisada, Kenta Tominaga, Motohiro Onoda, Kenjiro Kosaki
IFT172 as the 19th gene causative of oral-facial-digital syndrome. American journal of medical genetics. Part A 179 (12) (2019)
Toshiki Takenouchi, Fan-Yan Wei, Hisato Suzuki, Tomoko Uehara, Takao Takahashi, Yasushi Okazaki, Kenjiro Kosaki, Kazuhito Tomizawa
Noninvasive diagnosis of TRIT1-related mitochondrial disorder by measuring i6 A37 and ms2 i6 A37 modifications in tRNAs from blood and urine samples. American journal of medical genetics. Part A 179 (8) (2019)
Tomoko Uehara, Takatoshi Tsuchihashi, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Kenjiro Kosaki
CNOT2 haploinsufficiency causes a neurodevelopmental disorder with characteristic facial features. American journal of medical genetics. Part A 179 (12) (2019)
Hiroyuki Mishima, Hisato Suzuki, Michiko Doi, Mutsuko Miyazaki, Satoshi Watanabe, Tadashi Matsumoto, Kanako Morifuji, Hiroyuki Moriuchi, Koh-Ichiro Yoshiura, Tatsuro Kondoh, Kenjiro Kosaki
Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan. Journal of human genetics 64 (8) (2019)
Hisato Suzuki, Tomoko Watanabe, Tomoko Uehara, Kenjiro Kosaki
Medical genetics and genomic medicine in Japan. American journal of medical genetics. Part C, Seminars in medical genetics 181 (2) (2019)