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Makiko Tominaga

Pure duplication of 19p13.3
2013 · Aki Ishikawa, Keisuke Enomoto, et al. · American Journal of Medical Genetics Part A · 48
De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity
2014 · Yukiko Kuroda, Ikuko Ohashi, et al. · American Journal of Medical Genetics Part A · 47
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl
2012 · Keisuke Enomoto, Yasuhiro Kishitani, et al. · American Journal of Medical Genetics Part A · 39
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome
2020 · Hiroaki Murakami, Yoshinori Tsurusaki, et al. · American Journal of Medical Genetics Part A · 36
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
2021 · Yumi Enomoto, Takayuki Yokoi, et al. · Clinical Genetics · 7
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4
2021 · Yumi Enomoto, Yoshinori Tsurusaki, et al. · Molecular Syndromology · 7
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Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5
2019 · Makiko Tominaga, Satoshi Hamanoue, et al. · Human Genome Variation · 4
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LAMA1 variants were identified Joubert syndrome patient
2022 · Yutaro Noguchi, Nodoka Hinokuma, et al. · Pediatrics International · 3
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan
2025 · Yuka Yamashita, Nahoko Shirato, et al. · Journal of Human Genetics · 1
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia
2012 · Kenji Kurosawa, Keisuke Enomoto, et al. · Congenital Anomalies · 1
Clinical characteristics, antimicrobial therapy, and outcomes in febrile infants with and without human parechovirus detected in cerebrospinal fluid
2026 · Kazuya Takasaka, Yuta Onuki, et al. · Translational Pediatrics
Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13
2019 · Makiko Tominaga, Toshiyuki Saito, et al. · Congenital Anomalies
Works count: 12
Citation count: 193
H-index: 6
I10-index: 4
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