Mitsuo Masuno

4.5k total citations · 1 hit paper
86 papers, 2.3k citations indexed

About

Mitsuo Masuno is a scholar working on Genetics, Molecular Biology and Surgery. According to data from OpenAlex, Mitsuo Masuno has authored 86 papers receiving a total of 2.3k indexed citations (citations by other indexed papers that have themselves been cited), including 51 papers in Genetics, 43 papers in Molecular Biology and 13 papers in Surgery. Recurrent topics in Mitsuo Masuno's work include Genomic variations and chromosomal abnormalities (23 papers), Congenital limb and hand anomalies (10 papers) and Connective tissue disorders research (9 papers). Mitsuo Masuno is often cited by papers focused on Genomic variations and chromosomal abnormalities (23 papers), Congenital limb and hand anomalies (10 papers) and Connective tissue disorders research (9 papers). Mitsuo Masuno collaborates with scholars based in Japan, United States and Germany. Mitsuo Masuno's co-authors include Hans G. Dauwerse, Raoul C. M. Hennekam, Niels Tommerup, Jasper J. Saris, Martijn H. Breuning, Rachel H. Giles, Dorien J.M. Peters, Gert‐Jan B. van Ommen, Richard H. Goodman and Yoshikazu Kuroki and has published in prestigious journals such as Nature, Experimental Cell Research and Human Pathology.

In The Last Decade

Mitsuo Masuno

81 papers receiving 2.2k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

1995 904 citations Rachel H. Giles, Hans G. Dauwerse et al. Nature profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Mitsuo Masuno Japan	21	1.4k	1.1k	275	239	216	86	2.3k
Ruth Newbury‐Ecob United Kingdom	25	2.0k 1.5×	1.3k 1.2×	310 1.1×	131 0.5×	285 1.3×	64	3.2k
Peter Meinecke Germany	31	2.5k 1.8×	1.9k 1.8×	437 1.6×	194 0.8×	154 0.7×	105	4.0k
Oliver Bartsch Germany	29	1.3k 1.0×	1.3k 1.2×	421 1.5×	269 1.1×	93 0.4×	153	2.7k
Samia A. Temtamy Egypt	29	1.4k 1.0×	1.6k 1.5×	407 1.5×	209 0.9×	199 0.9×	127	2.9k
Anthonie J. van Essen Netherlands	27	1.4k 1.0×	920 0.8×	221 0.8×	102 0.4×	81 0.4×	49	2.3k
Armand Bottani Switzerland	24	1.2k 0.9×	1.3k 1.2×	178 0.6×	105 0.4×	66 0.3×	62	2.2k
Rika Kosaki Japan	25	1.3k 0.9×	846 0.8×	297 1.1×	77 0.3×	109 0.5×	113	2.3k
Jürgen Kohlhase Germany	33	1.7k 1.2×	1.0k 0.9×	287 1.0×	111 0.5×	130 0.6×	91	2.7k
Sylvie Odent France	36	2.7k 1.9×	1.5k 1.4×	333 1.2×	151 0.6×	102 0.5×	152	3.8k
Paul Rutland United Kingdom	23	1.9k 1.3×	2.1k 1.9×	386 1.4×	85 0.4×	103 0.5×	40	3.4k

Countries citing papers authored by Mitsuo Masuno

Since Specialization

Citations

This map shows the geographic impact of Mitsuo Masuno's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Mitsuo Masuno with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mitsuo Masuno more than expected).

Fields of papers citing papers by Mitsuo Masuno

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mitsuo Masuno. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Mitsuo Masuno. The network helps show where Mitsuo Masuno may publish in the future.

Co-authorship network of co-authors of Mitsuo Masuno

This figure shows the co-authorship network connecting the top 25 collaborators of Mitsuo Masuno. A scholar is included among the top collaborators of Mitsuo Masuno based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Mitsuo Masuno. Mitsuo Masuno is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Masuno, Mitsuo, et al.. (2023). A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay. Human Genome Variation. 10(1). 27–27.

Masuno, Mitsuo, et al.. (2022). A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. Human Genome Variation. 9(1). 26–26. 4 indexed citations

Kurosawa, Kenji, Toshiyuki Yamamoto, Hiroshi Ishikawa, et al.. (2011). Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3). Congenital Anomalies. 52(2). 106–110. 16 indexed citations

Udaka, Toru, Kenji Kurosawa, Kosuke Izumi, et al.. (2006). Screening for Partial Deletions in the CREBBP Gene in Rubinstein–Taybi Syndrome Patients Using Multiplex PCR/Liquid Chromatography. Genetic Testing. 10(4). 265–271. 12 indexed citations

Yamamoto, Toshiyuki, Kenji Kurosawa, Mitsuo Masuno, et al.. (2005). Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome. American Journal of Medical Genetics Part A. 135A(2). 130–133. 18 indexed citations

Imaizumi, Kiyoshi, Junko Kimura, Mari Matsuo, et al.. (2001). Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1). American Journal of Medical Genetics. 107(1). 58–60. 31 indexed citations

Imaizumi, Kiyoshi, Takuma Ishii, Jun‐Ichi Kimura, Mitsuo Masuno, & Yoshikazu Kuroki. (1999). Association of microphthalmia with esophageal atresia: Report of two new patients and review of the literature. American Journal of Medical Genetics. 87(2). 180–182. 8 indexed citations

Masuno, Mitsuo, Akihiko Okawa, Minoru Isomura, et al.. (1999). Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene. Clinical Genetics. 55(6). 466–472. 10 indexed citations

Nakajima, Shoko, et al.. (1998). Natural History of Cri-du-chat Syndrome. 102(11). 1195–1201. 3 indexed citations

10.

Imaizumi, Kiyoshi, Takuma Ishii, Mitsuo Masuno, & Yoshikazu Kuroki. (1998). Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case. Clinical Dysmorphology. 7(3). 213–216. 11 indexed citations

11.

Imaizumi, Kiyoshi, et al.. (1997). Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2). American Journal of Medical Genetics. 73(3). 244–246. 12 indexed citations

12.

Masuno, Mitsuo, Toshiyuki Fukao, Xiang‐Qian Song, et al.. (1996). Assignment of the Human Cytosolic Acetoacetyl-Coenzyme A Thiolase (ACAT2) Gene to Chromosome 6q25.3–q26. Genomics. 36(1). 217–218. 5 indexed citations

13.

Giles, Rachel H., Hans G. Dauwerse, Jasper J. Saris, et al.. (1995). Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 376(6538). 348–351. 904 indexed citations breakdown →

14.

Masuno, Mitsuo, et al.. (1995). Miller‐Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3). American Journal of Medical Genetics. 59(4). 441–443. 14 indexed citations

15.

Makita, Yoshio, et al.. (1995). Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25). American Journal of Medical Genetics. 57(1). 19–21. 20 indexed citations

16.

Hori, Tada-aki, et al.. (1993). Interstitial deletion of the long arm of chromosome 11 determined by fluorescencein situ hybridization. The Japanese Journal of Human Genetics. 38(2). 219–224. 2 indexed citations

17.

Okamoto, Hiroyuki, et al.. (1992). Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly. Experimental Cell Research. 201(2). 307–312. 7 indexed citations

18.

Masuno, Mitsuo, et al.. (1992). Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature. The Japanese Journal of Human Genetics. 37(3). 229–234. 15 indexed citations

19.

Masuno, Mitsuo, Takashi Kuwahara, Nobuo Shimizu, et al.. (1991). Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation. American Journal of Medical Genetics. 41(1). 32–34. 17 indexed citations

20.

Masuno, Mitsuo, Shunji Tomatsu, Kazuko Sukegawa, & Tadao Orii. (1990). Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form. Human Genetics. 84(2). 203–6. 41 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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