关注
Ken Saida
Ken Saida
Research Fellow, Boston Children's Hospital
在 childrens.harvard.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik, S Mizuno, H Suzumura, ...
Journal of human genetics 64 (12), 1173-1186, 2019
712019
Rituximab-associated agranulocytosis in children with refractory idiopathic nephrotic syndrome: case series and review of literature
K Kamei, M Takahashi, M Fuyama, K Saida, H Machida, M Sato, M Ogura, ...
Nephrology Dialysis Transplantation 30 (1), 91-96, 2015
652015
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
A Takata, M Nakashima, H Saitsu, T Mizuguchi, S Mitsuhashi, ...
Nature communications 10 (1), 2506, 2019
642019
De novo variants in the F-box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder
A Gregor, LG Sadleir, R Asadollahi, S Azzarello-Burri, A Battaglia, ...
The American Journal of Human Genetics 103 (2), 305-316, 2018
472018
Efficacy and safety of eculizumab in childhood atypical hemolytic uremic syndrome in Japan
N Ito, H Hataya, K Saida, Y Amano, Y Hidaka, Y Motoyoshi, T Ohta, ...
Clinical and experimental nephrology 20, 265-272, 2016
342016
Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation
DB Beck, MA Basar, AJ Asmar, JJ Thompson, H Oda, DT Uehara, K Saida, ...
Science advances 7 (4), eabe2116, 2021
332021
Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean
K Sugiura, T Takeichi, K Tanahashi, Y Ito, T Kosho, K Saida, H Uhara, ...
Journal of Dermatological Science 72 (2), 193-195, 2013
322013
Efficient detection of copy‐number variations using exome data: Batch‐and sex‐based analyses
Y Uchiyama, D Yamaguchi, K Iwama, S Miyatake, K Hamanaka, ...
Human mutation 42 (1), 50-65, 2021
312021
Neuronal intranuclear inclusion disease presenting with an MELAS-like episode in chronic polyneuropathy
T Ishihara, T Okamoto, K Saida, Y Saitoh, S Oda, T Sano, T Yoshida, ...
Neurology: Genetics 6 (6), e531, 2020
292020
Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing
H Fukuda, D Yamaguchi, K Nyquist, Y Yabuki, S Miyatake, Y Uchiyama, ...
Clinical Epigenetics 13, 1-17, 2021
282021
Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
K Hamanaka, N Miyake, T Mizuguchi, S Miyatake, Y Uchiyama, ...
Genome Medicine 14 (1), 40, 2022
262022
Exfoliative toxin A staphylococcal scalded skin syndrome in preterm infants
K Saida, K Kawasaki, K Hirabayashi, Y Akazawa, S Kubota, E Kasuga, ...
European journal of pediatrics 174, 551-555, 2015
252015
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals
K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ...
Genetics in Medicine 25 (1), 90-102, 2023
212023
Pathogenic variants in the survival of motor neurons complex gene GEMIN5 cause cerebellar atrophy
K Saida, J Tamaoki, M Sasaki, M Haniffa, E Koshimizu, T Sengoku, ...
Clinical Genetics 100 (6), 722-730, 2021
202021
The first nationwide survey and genetic analyses of Bardet-Biedl syndrome in Japan
M Hirano, W Satake, K Ihara, I Tsuge, S Kondo, K Saida, H Betsui, ...
PloS one 10 (9), e0136317, 2015
202015
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature
RH van Jaarsveld, J Reilly, MC Cornips, MA Hadders, E Agolini, ...
Genetics in Medicine 25 (1), 49-62, 2023
192023
Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports
T Yoshikawa, K Kamei, H Nagata, K Saida, M Sato, M Ogura, S Ito, ...
Nephrology 22 (7), 566-571, 2017
192017
Successful unrelated cord blood transplantation using a reduced-intensity conditioning regimen in a 6-month-old infant with congenital neutropenia complicated by severe pneumonia
Y Nakazawa, K Sakashita, M Kinoshita, K Saida, T Shigemura, ...
International journal of hematology 80, 287-290, 2004
182004
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1
K Saida, CA Kim, JRM Ceroni, DR Bertola, RS Honjo, S Mitsuhashi, ...
Journal of Human Genetics 64 (9), 885-890, 2019
152019
SOFT syndrome in a patient from Chile
K Saida, S Silva, B Solar, A Fujita, K Hamanaka, S Mitsuhashi, ...
American Journal of Medical Genetics Part A 179 (3), 338-340, 2019
152019
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