鈴木寿人(スズキヒサト)

所属

医学医療系

職名

准教授

ORCID

研究分野


人類遺伝学
小児科学

研究キーワード


希少疾患
エクソーム解析
メタゲノム
遺伝子解析

研究課題


新規ウイルス探索を含めた川崎病患者に対するショットガンメタゲノム解析	2022-04 -- (現在)	鈴木　寿人	科研費//科学研究費助成事業（学術研究助成基金助成金）基盤研究(c)(一般）
超長寿者を比較対象とした肺高血圧患者の遺伝子構造異常解析とリスク評価	2020-04 -- 2022-03	鈴木　寿人	科研費/若手研究
食物アレルギーの発症における腸内細菌叢の役割の解明	2017-04 -- 2021-03	鈴木　寿人	科研費/Grants-in-Aid for Scientific Research(若手研究(B))

学歴


2014-04 -- 2017-03	筑波大学大学院人間総合科学研究科疾患制御医学専攻
2003-04 -- 2009-03	筑波大学医学専門学群医学類

取得学位


2009-03	学士（医学）	筑波大学
2017-03	博士（医学）	筑波大学

免許資格等


2019-11	臨床遺伝専門医
2019-04	日本アレルギー学会専門医
2014-10	日本小児科学会専門医
2009-04	医師免許

論文

Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis
Saito Sonoko; Saito Yuki; Sato Showbu; Aoki Satomi; F...
The American Journal of Human Genetics, 2024-04
Gut microbiota of one-and-a-half-year-old food-allergic and healthy children
Hara Monami; Suzuki Hisato; Hayashi Daisuke; Morii Wa...
Allergology International, 2024-04
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
Yamada Mamiko; Mizuno Seiji; Inaba Mie; Uehara Tomoko...
American journal of medical genetics. Part A, 2024-04-02
PubMed
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome
Takahashi Ikuko; Noguchi Atsuko; Kondo Daiki; Sato Yo...
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology/33(1)/pp.39-42, 2024-04-01
PubMed
Successful skipping of abnormal pseudoexon by antisense oligonucleotides in vitro for a patient with beta-propeller protein-associated neurodegeneration
Yamada Mamiko; Maeta Kazuhiro; Suzuki Hisato; Kurosawa...
Scientific reports/14(1)/p.6506, 2024-03-18
PubMed
Identification of a novel splice-site WWOX variant with paternal uniparental isodisomy in a patient with infantile epileptic encephalopathy
Nishino Megumi; Tanaka Mai; Imagawa Kazuo; Yaita Kats...
American journal of medical genetics. Part A, 2024-02-26
PubMed
SALL4 deletion and kidney and cardiac defects associated with VACTERL association
Watanabe Daisuke; Nakato Daisuke; Yamada Mamiko; Suzuk...
Pediatric nephrology (Berlin, Germany), 2024-02-08
PubMed
X -linked inheritance of primary ciliary dyskinesia and retinitis pigmentosa due to RPGR variant: A case report and literature review
Kuroda Aoi; Namkoong Ho; Iwami Eri; Tsutsumi Akihiro; ...
Respirology case reports/11(12), 2023-12-01
PubMed
BMP2 is a potential causative gene for isolated dextrocardia situs solitus
Yogi Analia; Iemura Ryosei; Nakatani Hisae; Takasawa ...
European journal of medical genetics/66(9), 2023-09-01
PubMed
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences
Yamada Mamiko; Nitta Yohei; Uehara Tomoko; Suzuki His...
European journal of medical genetics/66(8), 2023-08-01
PubMed
Café-au-lait Spots and Cleft Palate: Not a Chance Association
Yamada Mamiko; Tanito Katsumi; Suzuki Hisato; Nakato ...
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2023-07-14
PubMed
Oculofaciocardiodental syndrome caused by a novel BCOR variant
Yamashita Tomoyo; Hotta Junko; Jogu Yukiko; Sakai Eri...
Human genome variation/10(1)/p.18, 2023-06-12
PubMed
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case report
Ouchi Shogo; Ishii Kazuhiro; Kosaki Kenjiro; Suzuki H...
BMC NEUROLOGY/23(1)/p.211, 2023-06-01
PubMed
Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
Ogawa Eri; Hishiki Takako; Hayakawa Noriyo; Suzuki Hi...
Molecular genetics and metabolism reports/35, 2023-06-01
PubMed
Involvement of mTOR pathway in neurodegeneration in NSF-related developmental and epileptic encephalopathy
Hayashi Takahiro; Yano Naoko; Kora Kengo; Yokoyama At...
Human molecular genetics/32(10)/pp.1683-1697, 2023-05-05
PubMed
Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1
Kawahara Sakura; Imagawa Kazuo; Suzuki Hisato; Ohto T...
PEDIATRICS INTERNATIONAL/65(1), 2023-04-01
PubMed
Oral Baclofen Therapy for Multifocal Spinal Myoclonus with TBC1D24 Variant
Murofushi Yuka; Hayakawa Itaru; Kawai Michiko; Abe Yu...
Movement disorders clinical practice/10(4)/pp.719-721, 2023-04-01
PubMed
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruption
Yamada Mamiko; Suzuki Hisato; Miya Fuyuki; Kosugiyama ...
Congenital anomalies, 2023-03-22
PubMed
Familial café-au-lait macules associated with in-frame deletion of NF1 p.Met992del mimicking Legius syndrome
Nakato Daisuke; Yamada Mamiko; Suzuki Hisato; Takenouc...
Congenital anomalies/63(2)/pp.54-55, 2023-03-01
PubMed
A novel variant of ARPC4-related neurodevelopmental disorder
Kuroda Yukiko; Kumaki Tatsuro; Saito Yoko; Enomoto Yu...
American journal of medical genetics. Part A/191(3)/pp.893-895, 2023-03-01
PubMed
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencing
Yamada Mamiko; Okuno Hironobu; Okamoto Nobuhiko; Suzuk...
European journal of medical genetics/66(2), 2023-02-01
PubMed
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
Suzuki Hisato; Li Simo; Tokutomi Tomoharu; Takeuchi C...
Human molecular genetics/31(24)/pp.4173-4182, 2022-12-16
PubMed
Clinical report: Chronic liver dysfunction in an individual with an AMOTL1 variant
Kirino Shizuka; Suzuki Mitsuyoshi; Ogawa Takuya; Takas...
European journal of medical genetics/65(11), 2022-11-01
PubMed
De novo non-synonymous CTR9 variants are associated with motor delay and macrocephaly: human genetic and zebrafish experimental evidence
Suzuki Hisato; Aoki Kana; Kurosawa Kenji; Imagawa Kazuo; ...
HUMAN MOLECULAR GENETICS/31(22)/pp.3846-3854, 2022-11
PubMed
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
Yamada Mamiko; Suzuki Hisato; Miya Fuyuki; Takenouchi ...
American journal of medical genetics. Part A/188(8)/pp.2472-2478, 2022-08-01
PubMed
さらに表示...

(最終更新日: 2024-04-23)

鈴木 寿人(スズキ ヒサト)

鈴木寿人(スズキヒサト)