| A SNP in the ABCC11 gene is the determinant of human earwax type K Yoshiura, A Kinoshita, T Ishida, A Ninokata, T Ishikawa, T Kaname, ... Nature genetics 38 (3), 324-330, 2006 | 358 | 2006 |
| BAC array CGH reveals genomic aberrations in idiopathic mental retardation N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, ... American Journal of Medical Genetics Part A 140 (3), 205-211, 2006 | 78 | 2006 |
| Molecular characterization of del (8)(p23. 1p23. 1) in a case of congenital diaphragmatic hernia O Shimokawa, N Miyake, T Yoshimura, N Sosonkina, N Harada, ... American Journal of Medical Genetics Part A 136 (1), 49-51, 2005 | 78 | 2005 |
| Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid S Miura, K Miura, H Masuzaki, N Miyake, K Yoshiura, N Sosonkina, ... Journal of human genetics 51 (5), 412-417, 2006 | 72 | 2006 |
| Mortalin (GRP75/HSPA9) promotes survival and proliferation of thyroid carcinoma cells D Starenki, N Sosonkina, SK Hong, RV Lloyd, JI Park International journal of molecular sciences 20 (9), 2069, 2019 | 55 | 2019 |
| Characterization of coding/noncoding variants for SHROOM3 in patients with CKD JW Prokop, NC Yeo, C Ottmann, SB Chhetri, KL Florus, EJ Ross, ... Journal of the American Society of Nephrology 29 (5), 1525-1535, 2018 | 51 | 2018 |
| The role of STAT3 in thyroid cancer N Sosonkina, D Starenki, JI Park Cancers 6 (1), 526-544, 2014 | 49 | 2014 |
| No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients N Miyake, O Shimokawa, N Harada, N Sosonkina, A Okubo, H Kawara, ... American journal of medical genetics. Part A 140 (3), 291-293, 2006 | 29 | 2006 |
| VarSight: prioritizing clinically reported variants with binary classification algorithms JM Holt, B Wilk, CL Birch, DM Brown, M Gajapathy, AC Moss, ... BMC bioinformatics 20, 1-10, 2019 | 17 | 2019 |
| Applying whole-genome sequencing in relation to phenotype and outcomes in siblings with cystic fibrosis MA Wilk, AT Braun, PM Farrell, A Laxova, DM Brown, JM Holt, CL Birch, ... Molecular Case Studies 6 (1), a004531, 2020 | 15 | 2020 |
| Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines N Sosonkina, SK Hong, D Starenki, JI Park Genes & genomics 36, 829-841, 2014 | 13 | 2014 |
| Japanese map of the earwax gene frequency: a nationwide collaborative study by Super Science High School Consortium Super Science High School Consortium Journal of human genetics 54 (9), 499-503, 2009 | 13 | 2009 |
| Down-regulation of ABCC11 protein (MRP8) in human breast cancer N Sosonkina, M Nakashima, T Ohta, N Niikawa, D Starenki Experimental Oncology, 2011 | 12 | 2011 |
| Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia T Mizuguchi, R Hashimoto, M Itokawa, A Sano, O Shimokawa, ... Journal of human genetics 53 (10), 914-919, 2008 | 12 | 2008 |
| Identification of pathogenic structural variants in rare disease patients through genome sequencing JM Holt, CL Birch, DM Brown, M Gajapathy, N Sosonkina, B Wilk, MA Wilk, ... BioRxiv, 627661, 2019 | 8 | 2019 |
| Unmasking 15q12 deletion using microarray‐based comparative genomic hybridization in a mentally retarded boy with r (Y) K Kurosawa, N Harada, N Sosonkina, N Niikawa, S Saitoh, N Matsumoto American Journal of Medical Genetics Part A 130 (3), 322-324, 2004 | 8 | 2004 |
| eP403: finding merit in impurity: designing a cost-effective workflow for saliva genome sequencing N Sosonkina, M Kelly, J Holt, D Bick, G Nakouzi Genetics in Medicine 24 (3), S253-S254, 2022 | 2 | 2022 |
| A Novel Association between the 27-bp Deletion and 538G> A Mutation in the ABCC11 Gene YS Hori, A Yamada, N Matsuda, Y Ono, D Starenki, N Sosonkina, ... Human Biology 89 (4), 305-307, 2017 | 1 | 2017 |
| Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In … N Sosonkina, N Miyake, N Harada, D Starenki, T Ohta, Y Fukushima, ... Acta Medica Nagasakiensia 52 (1), 29-34, 2007 | 1 | 2007 |
| Prospective validation from a retrospective trial that validated an AI/ML-derived whole-genome biomarker as the most accurate and precise predictor of survival and response to … O Alter, SP Ponnapalli, JW Tsai, P Miron, KLS Miskimen, KA Waite, ... Journal of Clinical Oncology 42 (16_suppl), e14028-e14028, 2024 | | 2024 |
