Mitsuo Masuno

4.5k citations

86 papers · 2.3k indexed · 1 hit paper · h-index 21

Co-authors: 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
Topics: Genomic variations and chromosomal abnormalities (23 papers)Congenital limb and hand anomalies (10 papers)Connective tissue disorders research (9 papers)
Cited by: Developmental Biology Genetics Molecular Biology
Journals: Nature Experimental Cell Research Human Pathology
Partner nations: Japan United States Germany

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

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

#	Work	Indexed citations
1	A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay 2023 ·Human Genome Variation ·(unknown),Mitsuo Masuno,(unknown),(unknown),(unknown),Yoshihiro Asano,(unknown),(unknown),Yasuko Yamanouchi,(unknown),Takanobu Otomo	0
2	A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome 2022 ·Human Genome Variation ·(unknown),(unknown),Mitsuo Masuno,(unknown),(unknown),(unknown),(unknown),Yoshihiro Asano,(unknown),(unknown),Seigo Terawaki,Yasuko Yamanouchi,Takanobu Otomo	4
3	Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3) 2011 ·Congenital Anomalies ·Kenji Kurosawa,(unknown),Toshiyuki Yamamoto,Hiroshi Ishikawa,Mitsuo Masuno,Yukichi Tanaka,Michiko Yamanaka	16
4	Screening for Partial Deletions in the CREBBP Gene in Rubinstein–Taybi Syndrome Patients Using Multiplex PCR/Liquid Chromatography 2006 ·Genetic Testing ·Toru Udaka,Kenji Kurosawa,Kosuke Izumi,Shinobu Yoshida,Masato Tsukahara,Nobuhiko Okamoto,Chiharu Torii,Rika Kosaki,Mitsuo Masuno,(unknown),Takao Takahashi,Kenjiro Kosaki	12
5	Congenital anomaly of cervical vertebrae is a major complication of Rubinstein–Taybi syndrome 2005 ·American Journal of Medical Genetics Part A ·Toshiyuki Yamamoto,Kenji Kurosawa,Mitsuo Masuno,(unknown),(unknown),Sahoko Miyama,Nobuhiko Okamoto,Noriko Aida,Gen Nishimura	18
6	Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1) 2001 ·American Journal of Medical Genetics ·Kiyoshi Imaizumi,Junko Kimura,Mari Matsuo,Kenji Kurosawa,Mitsuo Masuno,Norio Niikawa,Yoshikazu Kuroki	31
7	Association of microphthalmia with esophageal atresia: Report of two new patients and review of the literature 1999 ·American Journal of Medical Genetics ·Kiyoshi Imaizumi,Takuma Ishii,Jun‐Ichi Kimura,Mitsuo Masuno,Yoshikazu Kuroki	8
8	Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene 1999 ·Clinical Genetics ·(unknown),Mitsuo Masuno,(unknown),Akihiko Okawa,Minoru Isomura,Kumiko Koyama,K. Okui,(unknown),M.S. Sasaki,Urara Kohdera,(unknown),Hirofumi Koyama,Hirofumi Ohashi,Hitoshi Tajiri,Kiyoshi Imaizumi,(unknown)	10
9	Natural History of Cri-du-chat Syndrome 1998 ·Shoko Nakajima,(unknown),Mitsuo Masuno,Takuma Ishii,Yoshikazu Kuroki	3
10	Association of holoprosencephaly, ectrodactyly, cleft lip/cleft palate and hypertelorism: a possible third case 1998 ·Clinical Dysmorphology ·Kiyoshi Imaizumi,Takuma Ishii,Mitsuo Masuno,Yoshikazu Kuroki	11
11	Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2) 1997 ·American Journal of Medical Genetics ·Kiyoshi Imaizumi,Mitsuo Masuno,Takuma Ishii,Yoshikazu Kuroki,(unknown),Yusuke Nakamura	12
12	Assignment of the Human Cytosolic Acetoacetyl-Coenzyme A Thiolase (ACAT2) Gene to Chromosome 6q25.3–q26 1996 ·Genomics ·Mitsuo Masuno,Toshiyuki Fukao,Xiang‐Qian Song,Seiji Yamaguchi,Tadao Orii,Naomi Kondo,Kiyoshi Imaizumi,Yoshikazu Kuroki	5
13	Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBPbreakdown → 1995 ·Nature ·(unknown),Rachel H. Giles,Hans G. Dauwerse,Jasper J. Saris,Raoul C. M. Hennekam,Mitsuo Masuno,Niels Tommerup,Gert‐Jan B. van Ommen,Richard H. Goodman,Dorien J.M. Peters,Martijn H. Breuning	904
14	Miller‐Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3) 1995 ·American Journal of Medical Genetics ·Mitsuo Masuno,Kiyoshi Imaizumi,(unknown),Kiyoshi Matsui,Akiko Goto,Yoshikazu Kuroki	14
15	Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25) 1995 ·American Journal of Medical Genetics ·Yoshio Makita,Mitsuo Masuno,Kiyoshi Imaizumi,Sumimasa Yamashita,(unknown),(unknown),Yoshikazu Kuroki	20
16	Interstitial deletion of the long arm of chromosome 11 determined by fluorescencein situ hybridization 1993 ·The Japanese Journal of Human Genetics ·Tada-aki Hori,Mitsuo Masuno,(unknown),Eiichi Takahashi,(unknown),Tadao Orii	2
17	Transformation and characterization of mutant human fibroblasts defective in peroxisome assembly 1992 ·Experimental Cell Research ·Hiroyuki Okamoto,Yasuyuki Suzuki,Nobuyuki Shimozawa,(unknown),Mitsuo Masuno,T Orii	7
18	Interstitial deletion of the long arm of chromosome 11: Report of a case and review of the literature 1992 ·The Japanese Journal of Human Genetics ·(unknown),Mitsuo Masuno,Seiji Yamaguchi,(unknown),Naomi Kondo,Tadao Orii	15
19	Second meiotic nondisjunction of the rearranged chromosome in a familial reciprocal 5/13 translocation 1991 ·American Journal of Medical Genetics ·Mitsuo Masuno,(unknown),Takashi Kuwahara,Nobuo Shimizu,(unknown),Ichiro Kawabata,Teruhiko Tamaya,Yukio Morishita,Naoki Yoshimi,Tadao Orii	17
20	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 1990 ·Human Genetics ·Mitsuo Masuno,Shunji Tomatsu,Kazuko Sukegawa,Tadao Orii	41

About Mitsuo Masuno

Mitsuo Masuno is a scholar working on Developmental Biology, Genetics and Genetics, having authored 86 papers that have together received 2.3k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (23 papers), Congenital limb and hand anomalies (10 papers) and Connective tissue disorders research (9 papers). The work is most often cited by research in Developmental Biology (239 citations), Genetics (1.1k citations) and Molecular Biology (1.4k citations). Mitsuo Masuno has collaborated with scholars based in Japan, United States and Germany. Frequent 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. Their work appears in journals such as Nature, Experimental Cell Research and Human Pathology.

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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