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Yasutsugu Chinen

Observed names: Chinen Yasutsugu, Chinen, Yasutsugu, Y Chinen
ORCID: 0000-0002-9486-6336
Observed ORCID: 0000-0002-9486-6336
OpenAlex ID: A5103188441
Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future
2019 · Madeleine Taylor, Shaukat Khan, et al. · Transplantation and Cellular Therapy · 229
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Hematopoietic stem cell transplantation for Morquio A syndrome
2015 · Hiromasa Yabe, Akemi Tanaka, et al. · Molecular Genetics and Metabolism · 94
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome
2015 · Shunji Tomatsu, Roberto Giugliani, et al. · Drug Design Development and Therapy · 78
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
2019 · Futoshi Sekiguchi, Yoshinori Tsurusaki, et al. · Journal of Human Genetics · 75
Morquio A syndrome: diagnosis and current and future therapies.
2014 · Shunji Tomatsu, Eriko Yasuda, et al. · PubMed · 70
Long-term therapeutic efficacy of allogenic bone marrow transplantation in a patient with mucopolysaccharidosis IVA
2014 · Yasutsugu Chinen, Takeshi Higa, et al. · Molecular Genetics and Metabolism Reports · 66
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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
2017 · Shin Hayashi, Daniela Tiaki Uehara, et al. · PLoS ONE · 65
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Mutations in CD96, a Member of the Immunoglobulin Superfamily, Cause a Form of the C (Opitz Trigonocephaly) Syndrome
2007 · Tadashi Kaname, Kumiko Yanagi, et al. · The American Journal of Human Genetics · 55
Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
2022 · Yuji Takahashi, Hidetoshi Date, et al. · Journal of Human Genetics · 52
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Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
2011 · Shin Hayashi, Nobuhiko Okamoto, et al. · Human Genetics · 46
Germline Mutation of CBL Is Associated With Moyamoya Disease in a Child With Juvenile Myelomonocytic Leukemia and Noonan Syndrome‐Like Disorder
2014 · Nobuyuki Hyakuna, Hideki Muramatsu, et al. · Pediatric Blood & Cancer · 44
Activity of daily living for Morquio A syndrome
2016 · Eriko Yasuda, Yasuyuki Suzuki, et al. · Molecular Genetics and Metabolism · 37
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses
2014 · Tsutomu Shimada, Joan Kelly, et al. · Molecular Genetics and Metabolism · 36
Four novel NIPBL mutations in Japanese patients with Cornelia de Lange syndrome
2005 · Noriko Miyake, Remco Visser, et al. · American Journal of Medical Genetics Part A · 35
No evidence of PEG1MEST gene mutations in Silver‐Russell syndrome patients
2001 · Shin Kobayashi, Hiraku Uemura, et al. · American Journal of Medical Genetics · 30
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease
2017 · Akira Ganaha, Tadashi Kaname, et al. · American Journal of Medical Genetics Part A · 28
Isovaleric acidemia: Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case study
2017 · Yasutsugu Chinen, Sadao Nakamura, et al. · Molecular Genetics and Metabolism Reports · 27
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No evidence ofPEG1/MEST gene mutations in Silver-Russell syndrome patients
2001 · Shin Kobayashi, Hiraku Uemura, et al. · American Journal of Medical Genetics · 25
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Two newly identified genomic mutations in a Japanese female patient with fructose-1,6-bisphosphatase (FBPase) deficiency
2002 · Toshinobu Matsuura, Yasutsugu Chinen, et al. · Molecular Genetics and Metabolism · 23
Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q13.13;q12.1)
2006 · Yasutsugu Chinen, Tadashi Kaname, et al. · American Journal of Medical Genetics Part A · 21
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia
2015 · Osamu Sakamoto, Natsuko Arai-Ichinoi, et al. · The Tohoku Journal of Experimental Medicine · 20
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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
2010 · Shin Hayashi, Issei Imoto, et al. · Journal of Human Genetics · 20
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α-N-acetylglucosaminidase gene from the Okinawa islands in Japan
2005 · Yasutsugu Chinen, Takaya Tohma, et al. · Journal of Human Genetics · 19
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
2016 · Satoshi Watanabe, Kenji Shimizu, et al. · American Journal of Medical Genetics Part A · 16
Two sisters with Toriello-Carey syndrome
1999 · Yasutsugu Chinen, Takaya Tohma, et al. · American Journal of Medical Genetics · 15
Works count: 67
Citation count: 1,374
H-index: 20
I10-index: 32
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