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T. Ogata · SciRah

Researcher profile · Semantic Scholar

T. Ogata

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T. Ogata — researcher profile on SciRah

h-index: 61
Works: 479
Citations: 16K

Most-cited papers

Association of four imprinting disorders and ART
H. Hattori, H. Hiura, Akane Kitamura, Naoko Miyauchi +7 more
2019Clinical Epigenetics137 citations Open access
Semantic Scholar
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
M. Nakashima, J. Tohyama, E. Nakagawa, Yoshihiro Watanabe +11 more
2019Journal of Human Genetics72 citations
Semantic Scholar
11-oxygenated C19 steroids as circulating androgens in women with polycystic ovary syndrome.
Tomoko Yoshida, T. Matsuzaki, M. Miyado, Kazuki Saito +5 more
2018Endocrine journal52 citations Open access
Semantic Scholar
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
T. Eggermann, Elzem Yapici, J. Bliek, A. Pereda +15 more
2022Clinical Epigenetics46 citations Open access
Semantic Scholar
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Yuji Takahashi, H. Date, Hideki Oi, T. Adachi +74 more
2022Journal of Human Genetics44 citations Open access
Semantic Scholar
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole‐exome sequencing
Takuya Hiraide, Kaori Yamoto, Yohei Masunaga, Miki Asahina +12 more
2021Clinical Genetics41 citations Open access
Semantic Scholar
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients
T. Inoue, Akie Nakamura, Megumi Iwahashi-Odano, Kanako Tanase-Nakao +16 more
2020Clinical Epigenetics39 citations Open access
Semantic Scholar
Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Five Patients.
Sayaka Kawashima, Akie Nakamura, T. Inoue, K. Matsubara +12 more
2018Journal of Clinical Endocrinology and Metabolism36 citations Open access
Semantic Scholar
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
K. Hamanaka, A. Takata, Y. Uchiyama, S. Miyatake +19 more
2019Human Molecular Genetics33 citations
Semantic Scholar
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
Deborah Mackay, J. Bliek, M. Kagami, J. Tenorio-Castaño +25 more
2022Clinical Epigenetics31 citations Open access
Semantic Scholar
KLF11 variant in a family clinically diagnosed with early childhood‐onset type 1B diabetes
K. Ushijima, S. Narumi, T. Ogata, I. Yokota +6 more
2019Pediatric Diabetes31 citations
Semantic Scholar
POLR3A variants in striatal involvement without diffuse hypomyelination.
Takuya Hiraide, Kazuo Kubota, Y. Kono, Seiji Watanabe +7 more
2020Brain & development (Tokyo. 1979)30 citations Open access
Semantic Scholar
IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2:IG-DMR Epimutations.
Yohei Masunaga, T. Inoue, Kaori Yamoto, Y. Fujisawa +14 more
2019Journal of Clinical Endocrinology and Metabolism30 citations Open access
Semantic Scholar
Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology
T. Inoue, Hideaki Yagasaki, J. Nishioka, Akie Nakamura +9 more
2018Journal of Medical Genetics28 citations Open access
Semantic Scholar
Congenital disorders of estrogen biosynthesis and action.
M. Fukami, T. Ogata
2021Best practice & research. Clinical endocrinology & metabolism26 citations
Semantic Scholar
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
M. Kagami, Kaori Hara-Isono, K. Matsubara, K. Nakabayashi +6 more
2021Clinical Epigenetics25 citations Open access
Semantic Scholar
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome Spectrum
T. Fuke, Akie Nakamura, T. Inoue, Sayaka Kawashima +7 more
2020Journal of Clinical Endocrinology and Metabolism23 citations Open access
Semantic Scholar
Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.
M. Miyado, M. Fukami, S. Takada, Miho Terao +11 more
2019Journal of the American Society of Nephrology23 citations Open access
Semantic Scholar
Gain‐of‐function mutations in G‐protein–coupled receptor genes associated with human endocrine disorders
M. Fukami, E. Suzuki, Maki Igarashi, M. Miyado +1 more
2018Clinical Endocrinology22 citations Open access
Semantic Scholar
Long-term efficacy and safety of two doses of Norditropin® (somatropin) in Noonan syndrome: a 4-year randomized, double-blind, multicenter trial in Japanese patients.
R. Horikawa, T. Ogata, Y. Matsubara, S. Yokoya +4 more
2020Endocrine journal21 citations Open access
Semantic Scholar
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMR
M. Kagami, Atsuhiro Yanagisawa, Miyuki Ota, K. Matsuoka +6 more
2019Clinical Epigenetics21 citations Open access
Semantic Scholar
A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth
Akie Nakamura, K. Muroya, H. Ogata-Kawata, K. Nakabayashi +5 more
2018Journal of Medical Genetics20 citations
Semantic Scholar
STX2 is a causative gene for nonobstructive azoospermia
Shigeru Nakamura, Y. Kobori, Y. Ueda, Yoko Tanaka +10 more
2018Human Mutation20 citations
Semantic Scholar
Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
T. Fukuda, Takuya Hiraide, Kaori Yamoto, M. Nakashima +4 more
2019European Journal of Medical Genetics19 citations Open access
Semantic Scholar
Comprehensive clinical and molecular studies in split-hand/foot malformation: identification of two plausible candidate genes (LRP6 and UBA2)
Kaori Yamoto, H. Saitsu, G. Nishimura, R. Kosaki +14 more
2019European Journal of Human Genetics19 citations Open access
Semantic Scholar
Partial androgen insensitivity syndrome caused by a deep intronic mutation creating an alternative splice acceptor site of the AR gene
Hiroyuki Ono, H. Saitsu, R. Horikawa, Shinichi Nakashima +6 more
2018Scientific Reports19 citations Open access
Semantic Scholar
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing
Takuya Hiraide, Kenji Shimizu, Sachiko Miyamoto, Kazushi Aoto +5 more
2022Journal of Human Genetics17 citations
Semantic Scholar
Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome
Kaori Hara-Isono, K. Matsubara, T. Fuke, K. Yamazawa +8 more
2020Clinical Epigenetics17 citations Open access
Semantic Scholar
Rare variant of the epigenetic regulator SMCHD1 in a patient with pituitary hormone deficiency
Kenichi Kinjo, Keisuke Nagasaki, K. Muroya, E. Suzuki +10 more
2020Scientific Reports16 citations Open access
Semantic Scholar
Primary ovarian insufficiency in a female with phosphomannomutase-2 gene (PMM2) mutations for congenital disorder of glycosylation.
Yohei Masunaga, M. Mochizuki, Machiko Kadoya, Y. Wada +5 more
2021Endocrine journal14 citations Open access
Semantic Scholar
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 years
Kaori Hara-Isono, K. Matsubara, M. Mikami, T. Arima +3 more
2020Clinical Epigenetics14 citations Open access
Semantic Scholar
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review
K. Takasawa, Maki Igarashi, M. Ono, A. Takemoto +6 more
2018Sexual Development13 citations
Semantic Scholar
Functional missense and splicing variants in the retinoic acid catabolizing enzyme CYP26C1 in idiopathic short stature
A. Montalbano, L. Juergensen, M. Fukami, C. Thiel +7 more
2018European Journal of Human Genetics13 citations Open access
Semantic Scholar
Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3-Congenital Disorders of Glycosylation and RP1-Related Retinitis Pigmentosa
Nobutaka Tachibana, Katsuhiro Hosono, S. Nomura, Shinji Arai +11 more
2022Genes12 citations Open access
Semantic Scholar
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions
A. Ohishi, Yohei Masunaga, Shigeo Iijima, Kaori Yamoto +4 more
2019Journal of Human Genetics12 citations
Semantic Scholar
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato +4 more
2018Japanese Journal of Ophthalmology12 citations
Semantic Scholar
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes
K. Ushijima, M. Fukami, T. Ayabe, S. Narumi +19 more
2018Pediatric Diabetes12 citations Open access
Semantic Scholar
Random X chromosome inactivation in patients with Klinefelter syndrome
Kenichi Kinjo, Tomoko Yoshida, Y. Kobori, H. Okada +4 more
2020Molecular and Cellular Pediatrics11 citations Open access
Semantic Scholar
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions
K. Matsubara, M. Itoh, K. Shimizu, Shinji Saito +7 more
2019Clinical Epigenetics11 citations Open access
Semantic Scholar
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
Ken Saida, T. Fukuda, D. Scott, T. Sengoku +14 more
2021Frontiers in Cell and Developmental Biology10 citations Open access
Semantic Scholar
SOX10 Mutation Screening for 117 Patients with Kallmann Syndrome
H. Shima, E. Tokuhiro, S. Okamoto, Mariko Nagamori +7 more
2021Journal of the Endocrine Society10 citations Open access
Semantic Scholar
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder
Takuya Hiraide, Seiji Watanabe, T. Matsubayashi, K. Yanagi +3 more
2020Molecular Genetics & Genomic Medicine10 citations Open access
Semantic Scholar
Insulin resistant diabetes mellitus in SHORT syndrome: case report and literature review.
Yohei Masunaga, Y. Fujisawa, Mayumi Muramatsu, Hiroyuki Ono +5 more
2020Endocrine journal10 citations Open access
Semantic Scholar
(Epi)genetic defects of MKRN3 are rare in Asian patients with central precocious puberty
E. Suzuki, H. Shima, M. Kagami, S. Soneda +14 more
2019Human Genome Variation10 citations Open access
Semantic Scholar
GATA4 mutations are uncommon in patients with 46,XY disorders of sex development without heart anomaly
Maki Igarashi, K. Mizuno, Masafumi Kon, S. Narumi +4 more
2018Asian Journal of Andrology10 citations Open access
Semantic Scholar
Loss of imprinting of the human-specific imprinted gene ZNF597 causes prenatal growth retardation and dysmorphic features: implications for phenotypic overlap with Silver-Russell syndrome
K. Yamazawa, T. Inoue, Yoshihiro Sakemi, T. Nakashima +12 more
2020Journal of Medical Genetics9 citations Open access
Semantic Scholar
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.
Takuya Hiraide, T. Ogata, Seiji Watanabe, M. Nakashima +2 more
2019Brain & development (Tokyo. 1979)9 citations
Semantic Scholar
Familial Pseudohypoparathyroidism Type IB Associated with an SVA Retrotransposon Insertion in the GNAS Locus
Sayaka Kawashima, Akiko Yuno, S. Sano, Akie Nakamura +10 more
2022Journal of Bone and Mineral Research8 citations
Semantic Scholar
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2
Kaori Hara-Isono, K. Matsubara, R. Hamada, Shun Shimada +9 more
2021Journal of Human Genetics8 citations
Semantic Scholar
Biallelic CDK9 variants as a cause of a new multiple-malformation syndrome with retinal dystrophy mimicking the CHARGE syndrome
S. Nishina, Katsuhiro Hosono, Shizuka Ishitani, K. Kosaki +9 more
2021Journal of Human Genetics7 citations Open access
Semantic Scholar

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