Kenjiro Kosaki

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 29

Top Venues

American journal of medical genetics. Part A

Clinical genetics

Congenital anomalies

Pediatric nephrology (Berlin, Germany)

Keio University

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

Affiliation History

Keio University

Japan

Professor :: Center for Medical Genetics

Publications

Daisuke Watanabe, Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Fuyuki Miya, Kenjiro Kosaki
SALL4 deletion and kidney and cardiac defects associated with VACTERL association. Pediatric nephrology (Berlin, Germany) 39 (8) (2024)
Daisuke Watanabe, Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Fuyuki Miya, Kenjiro Kosaki
SALL4 deletion and kidney and cardiac defects associated with VACTERL association. Pediatric nephrology (Berlin, Germany) 39 (8) (2024)
Daisuke Watanabe, Daisuke Nakato, Mamiko Yamada, Hisato Suzuki, Toshiki Takenouchi, Fuyuki Miya, Kenjiro Kosaki
SALL4 deletion and kidney and cardiac defects associated with VACTERL association. Pediatric nephrology (Berlin, Germany) (2024)
Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, Kenjiro Kosaki, Hiroyuki Ozawa, Tatsuo Matsunaga
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics 103 (4) (2023)
Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, Kenjiro Kosaki, Hiroyuki Ozawa, Tatsuo Matsunaga
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics (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)
Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, Kenjiro Kosaki, Hiroyuki Ozawa, Tatsuo Matsunaga
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics 103 (4) (2023)
Yasuyuki Shima, Shota Sasagawa, Nakao Ota, Rieko Oyama, Minoru Tanaka, Mie Kubota-Sakashita, Hirochika Kawakami, Mika Kobayashi, Naoko Takubo, Atsuko Nakanishi Ozeki, Xiaoning Sun, Yeon-Jeong Kim, Yoichiro Kamatani, Koichi Matsuda, Kazuhiro Maejima, Masashi Fujita, Kosumo Noda, Hiroyasu Kamiyama, Rokuya Tanikawa, Motoo Nagane, Junji Shibahara, Toru Tanaka, Yoshiyuki Rikitake, Nobuko Mataga, Satoru Takahashi, Kenjiro Kosaki, Hideyuki Okano, Tomomi Furihata, Ryo Nakaki, Nobuyoshi Akimitsu, Youichiro Wada, Toshihisa Ohtsuka, Hiroki Kurihara, Hiroyuki Kamiguchi, Shigeo Okabe, Masato Nakafuku, Tadafumi Kato, Hidewaki Nakagawa, Nobuhito Saito, Hirofumi Nakatomi
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms. Science translational medicine 15 (700) (2023)
Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, Kenjiro Kosaki, Hiroyuki Ozawa, Tatsuo Matsunaga
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics 103 (4) (2023)
Keisuke Yoshihama, Hideki Mutai, Mariko Sekimizu, Fumihiro Ito, Shin Saito, Shintaro Nakamura, Takuya Mikoshiba, Ryoto Nagai, Akiko Takebayashi, Fuyuki Miya, Kenjiro Kosaki, Hiroyuki Ozawa, Tatsuo Matsunaga
Molecular basis of carotid body tumor and associated clinical features in Japan identified by genomic, immunohistochemical, and clinical analyses. Clinical genetics (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)
Tomoko Akahane, Kenta Masuda, Akira Hiraswa, Yusuke Kobayashi, Arisa Ueki, Miho Kawaida, Kumiko Misu, Kohei Nakamura, Shimpei Nagai, Tatsuyuki Chiyoda, Wataru Yamagami, Shigenori Hayashi, Fumio Kataoka, Kouji Banno, Kokichi Sugano, Hajime Okita, Kenjiro Kosaki, Hiroshi Nishihara, Daisuke Aoki
TP53 variants in p53 signatures and the clonality of STICs in RRSO samples. Journal of gynecologic oncology 33 (4) (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)
Takako Shimura, Kenjiro Kosaki
Global spread of a Japan-originated Delta lineage of SARS-CoV-2 after the Tokyo Olympics is most likely unrelated to the Olympics. Journal of travel medicine (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)
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, Takeshi Arimitsu, Asami Osada, Kenjiro Kosaki
Direct visualization of the evolution of limb amputation in amnion rupture sequence in an extremely preterm infant born at 22 weeks. American journal of medical genetics. Part A 185 (9) (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)
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)
Mamiko Yamada, Hisato Suzuki, Akiko Watanabe, Tomoko Uehara, Toshiki Takenouchi, Seiji Mizuno, Kenjiro Kosaki
Role of chimeric transcript formation in the pathogenesis of birth defects. Congenital anomalies 61 (3) (2020)
Mamiko Yamada, Tatsuyuki Sokoda, Tomoko Uehara, Hisato Suzuki, Toshiki Takenouchi, Tatsuhiko Yagihashi, Yoshihiro Maruo, Kenjiro Kosaki
Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript. American journal of medical genetics. Part A 182 (12) (2020)
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)
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)
Mamiko Yamada, Yu Yamaguchi, Tomoko Uehara, Tatsuhiko Yagihashi, Kenjiro Kosaki
Heterozygous nonsense variant of CHD8 in a patient with forme-fruste Marfan syndrome and intellectual disability. Congenital anomalies 61 (1) (2020)
Toshiki Takenouchi, Hironobu Okuno, Kenjiro Kosaki
Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet-derived growth factor receptor-beta. American journal of medical genetics. Part C, Seminars in medical genetics 181 (4) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Kenjiro Kosaki