[1]. Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.
The Journal of clinical endocrinology and metabolism （2023年） [査読] 有
[DOI] [2]. Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).
Scientific reports [巻]12 [号]1 [頁]17079 （2022年） [査読] 有
[DOI] [3]. ACAN biallelic variants in a girl with severe idiopathic short stature.
Journal of human genetics （2022年） [査読] 有
[DOI] [4]. Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
Journal of human genetics [巻]67 [号]5 [頁]303 -306 （2022年） [査読] 有
[DOI] [機関リポジトリ][5]. Combined pituitary hormone deficiency in a patient with an missense variant: case report and literature review.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [巻]31 [号]3 [頁]172 -177 （2022年） [査読] 有
[DOI] [6]. Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
Journal of human genetics [巻]66 [号]12 [頁]1185 -1187 （2021年） [査読] 有
[DOI] [7]. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Brain & development [巻]43 [号]9 [頁]945 -951 （2021年） [査読] 有
[DOI] [8]. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clinical genetics [巻]100 [号]1 [頁]40 -50 （2021年） [査読] 有
[DOI] [9]. Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Endocrine journal [巻]68 [号]5 [頁]605 -611 （2021年） [査読] 有
[DOI] [10]. Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Clinical epigenetics [巻]13 [号]1 [頁]73 （2021年） [査読] 有
[DOI] [11]. Kagami-Ogata syndrome in a patient with 46,XX,t(2;14)(q11.2;q32.2)mat disrupting MEG3.
Journal of human genetics [巻]66 [号]4 [頁]439 -443 （2021年） [査読] 有
[DOI] [12]. Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Endocrine journal [巻]68 [号]1 [頁]111 -117 （2021年） [査読] 有
[DOI] [13]. TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
European journal of medical genetics [巻]63 [号]11 [頁]104060 （2020年） [査読] 有
[DOI] [14]. Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex development.
Scientific reports [巻]10 [号]1 [頁]17375 （2020年） [査読] 有
[DOI] [15]. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
Journal of human genetics [巻]65 [号]2 [頁]181 -186 （2020年） [査読] 有
[DOI] [16]. IGF2 Mutations.
The Journal of clinical endocrinology and metabolism [巻]105 [号]1 （2020年） [査読] 有
[DOI] [17]. MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Human molecular genetics [巻]28 [号]14 [頁]2319 -2329 （2019年） [査読] 有
[DOI] [18]. Expression profiles of cytokines and chemokines in murine MDR1a-/- colitis.
Inflamm Res. （2007年） [査読] 有
[19]. A novel, selective, and orally available antagonist for CC chemokine receptor 3.
The Journal of pharmacology and experimental therapeutics [巻]317 [号]1 [頁]244 -50 （2006年） [査読] 有
[DOI] [20]. Identification of multiple isolated lymphoid follicles on the antimesenteric wall of the mouse small intestine.
Journal of immunology (Baltimore, Md. : 1950) [巻]168 [号]1 [頁]57 -64 （2002年） [査読] 有
[DOI]