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 | 71 | 2019 |
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 | 65 | 2015 |
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 | 64 | 2019 |
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 | 47 | 2018 |
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 | 34 | 2016 |
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 | 33 | 2021 |
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 | 32 | 2013 |
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 | 31 | 2021 |
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 | 29 | 2020 |
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 | 28 | 2021 |
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 | 26 | 2022 |
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 | 25 | 2015 |
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 | 21 | 2023 |
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 | 20 | 2021 |
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 | 20 | 2015 |
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 | 19 | 2023 |
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 | 19 | 2017 |
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 | 18 | 2004 |
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 | 15 | 2019 |
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 | 15 | 2019 |