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Ayako Sasaki

Observed name: AYAKO SASAKI
ORCID: 0000-0001-6609-0473
Observed ORCID: 0000-0001-6609-0473
OpenAlex ID: A5046895572
Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate‐glucuronosyltransferase gene: a common missense mutation among Japanese, Koreans and Chinese
1998 · Kazuhiro Akaba, Toshiyuki Kimura, et al. · IUBMB Life · 207
Molecular analysis of congenital central hypoventilation syndrome
2003 · Ayako Sasaki, Masayo Kanai, et al. · Human Genetics · 185
Neonatal hyperbilirubinemia and a common mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese
1999 · Kazuhiro Akaba, Toshiyuki Kimura, et al. · Journal of Human Genetics · 97
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing
2022 · Satoko Miyatake, Eriko Koshimizu, et al. · npj Genomic Medicine · 79
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Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome
2015 · Tomoyuki Shimokaze, Ayako Sasaki, et al. · Journal of Human Genetics · 61
Sudden Infant Death Syndrome Is Not Associated with the Mutation of PHOX2B Gene, a Major Causative Gene of Congenital Central Hypoventilation Syndrome
2004 · Kazuki Kijima, Ayako Sasaki, et al. · The Tohoku Journal of Experimental Medicine · 35
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Neonatal Hyperbilirubinemia in Japanese Neonates: Analysis of the Heme Oxygenase-1 Gene and Fetal Hemoglobin Composition in Cord Blood
2003 · Masayo Kanai, Kazuhiro Akaba, et al. · Pediatric Research · 35
Decreased L‐selectin expression in CD34‐positive cells from patients with chronic myelocytic leukaemia
1996 · KUNIKO KAWAISHI, AKIRO KIMURA, et al. · British Journal of Haematology · 26
Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case.
2002 · MASAYO KANAI, CHIKAHIKO NUMAKURA, et al. · The Tohoku Journal of Experimental Medicine · 25
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Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome
2012 · Toru Meguro, Yuki Yoshida, et al. · Journal of Human Genetics · 24
Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly
1998 · Kazuhiro Hashimoto, Yutaka Takeuchi, et al. · Brain and Development · 24
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate‐glucuronosyltransferase gene: The common −3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
2005 · Masayo Kanai, Kazuki Kijima, et al. · Pediatrics International · 20
De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis
2007 · Hiroko Arai, Tesshu Otagiri, et al. · Journal of Human Genetics · 15
Sensitive Detection of Polyalanine Expansions in PHOX2B by Polymerase Chain Reaction Using Bisulfite-Converted DNA
2005 · Hidekazu Horiuchi, Ayako Sasaki, et al. · Journal of Molecular Diagnostics · 15
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A Case of Congenital Central Hypoventilation Syndrome with a Novel Mutation of the PHOX2B Gene Presenting as Central Sleep Apnea
2014 · Yuko Amimoto, Kenji Okada, et al. · Journal of Clinical Sleep Medicine · 14
Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis
2020 · Aoi Hino, Jiro Terada, et al. · Journal of Clinical Sleep Medicine · 13
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Three Consecutive Cases of Familial Hemophagocytic Lymphohistiocytosis, Including a Case Due to Maternal Uniparental Disomy
2019 · Hiroko Sato, Naomi Kawasaki, et al. · Journal of Pediatric Hematology/Oncology · 9
Novel PHOX 2B mutations in congenital central hypoventilation syndrome
2019 · Ayako Sasaki, Yumiko Kishikawa, et al. · Pediatrics International · 9
Respiratory syncytial virus‐associated encephalopathy complicated by congenital myopathy
2012 · Kazuyuki Nakamura, Mitsuhiro Kato, et al. · Pediatrics International · 9
L-Selectin Expression in CD34 Positive Cells in Chronic Myeloid Leukemia
1998 · Akiro Kimura, Kuniko Kawaishi, et al. · Leukemia & lymphoma/Leukemia and lymphoma · 9
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
2009 · Hiroko Arai, Tesshu Otagiri, et al. · Journal of Human Genetics · 8
Endoscopic treatment of intranasal glioma in an infant presenting with dyspnea
2009 · Nobuo Ohta, Tsukasa Ito, et al. · Auris Nasus Larynx · 8
A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease
2018 · Yuichiro Miura, Tatsuya Watanabe, et al. · European Journal of Medical Genetics · 6
Congenital Dysplastic Microcephaly and Hypoplasia of the Brainstem and Cerebellum With Diffuse Intracranial Calcification
2011 · Kazuyuki Nakamura, Mitsuhiro Kato, et al. · Journal of Child Neurology · 6
A novel ETFB mutation in a patient with glutaric aciduria type II
2015 · Yosuke Sudo, Ayako Sasaki, et al. · Human Genome Variation · 5
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Works count: 29
Citation count: 945
H-index: 14
I10-index: 16
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