Gen Nishimura

13.6k total citations · 3 hit papers
344 papers, 7.1k citations indexed

About

Gen Nishimura is a scholar working on Genetics, Molecular Biology and Rheumatology. According to data from OpenAlex, Gen Nishimura has authored 344 papers receiving a total of 7.1k indexed citations (citations by other indexed papers that have themselves been cited), including 209 papers in Genetics, 170 papers in Molecular Biology and 64 papers in Rheumatology. Recurrent topics in Gen Nishimura's work include Connective tissue disorders research (128 papers), Bone health and treatments (48 papers) and Dermatological and Skeletal Disorders (40 papers). Gen Nishimura is often cited by papers focused on Connective tissue disorders research (128 papers), Bone health and treatments (48 papers) and Dermatological and Skeletal Disorders (40 papers). Gen Nishimura collaborates with scholars based in Japan, United States and Germany. Gen Nishimura's co-authors include Shiro Ikegawa, Andrea Superti‐Furga, Sheila Unger, Hirofumi Ohashi, Tsutomu Ogata, Geert Mortier, Ravi Savarirayan, Valérie Cormier‐Daire, Christine M Hall and Matthew L. Warman and has published in prestigious journals such as Nature Medicine, Nature Genetics and SHILAP Revista de lepidopterología.

In The Last Decade

Gen Nishimura

333 papers receiving 6.9k citations

Hit Papers

align trajectories sort by overperformance

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.

Nosology and classification of genetic skeletal disorders: 2010 revision

2011 450 citations Matthew L. Warman, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →
Nosology and classification of genetic skeletal disorders: 2019 revision

2019 379 citations Geert Mortier, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →
Nosology and classification of genetic skeletal disorders: 2015 revision

2015 367 citations Luisa Bonafé, Valérie Cormier‐Daire et al. American Journal of Medical Genetics Part A profile →

Author Peers

Peers are selected by citation overlap in the author's most active subfields. citations · hero ref

Author						Papers	Cites
Gen Nishimura	3.7k	3.6k	1.2k	828	781	344	7.1k
Deborah Krakow	3.7k 1.0×	3.2k 0.9×	1.2k 1.0×	769 0.9×	647 0.8×	141	6.5k
Ravi Savarirayan	3.2k 0.8×	2.5k 0.7×	1.0k 0.8×	549 0.7×	629 0.8×	171	5.5k
Ralph S. Lachman	3.0k 0.8×	2.6k 0.7×	1.1k 0.9×	722 0.9×	815 1.0×	181	5.5k
Beat Steinmann	3.3k 0.9×	2.1k 0.6×	1.1k 0.9×	589 0.7×	864 1.1×	123	6.4k
Jürgen W. Spranger	2.7k 0.7×	2.4k 0.7×	1.1k 0.9×	674 0.8×	678 0.9×	171	5.8k
Jacky Bonaventure	2.7k 0.7×	3.4k 0.9×	1.2k 1.0×	821 1.0×	900 1.2×	94	5.8k
Ruth Gershoni‐Baruch	1.7k 0.5×	3.1k 0.9×	409 0.3×	812 1.0×	583 0.7×	145	6.1k
Sheila Unger	2.3k 0.6×	2.2k 0.6×	702 0.6×	617 0.7×	420 0.5×	127	4.3k
Jan P. Dumanski	2.0k 0.5×	3.6k 1.0×	755 0.6×	1.0k 1.3×	674 0.9×	146	7.4k
Didier Lacombe	2.7k 0.7×	4.0k 1.1×	403 0.3×	561 0.7×	1.1k 1.5×	322	7.8k

Countries citing papers authored by Gen Nishimura

Since Specialization

Citations

This map shows the geographic impact of Gen Nishimura'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 Gen Nishimura with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Gen Nishimura more than expected).

Fields of papers citing papers by Gen Nishimura

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Gen Nishimura. 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 Gen Nishimura. The network helps show where Gen Nishimura may publish in the future.

Co-authorship network of co-authors of Gen Nishimura

This figure shows the co-authorship network connecting the top 25 collaborators of Gen Nishimura. A scholar is included among the top collaborators of Gen Nishimura 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 Gen Nishimura. Gen Nishimura is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

Sort: Min cites: Since: Top N: Style:

20 of 20 papers shown

Hammarsjö, Anna, Peter Conner, Nikos Papadogiannakis, et al.. (2025). Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders. European Journal of Human Genetics. 33(11). 1474–1483. 1 indexed citations

Nishimura, Gen, Jakob Ek, Mads Bak, et al.. (2024). Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology. Clinical Genetics. 106(3). 360–366. 3 indexed citations

Handa, Atsuhiko, Gen Nishimura, Taiki Nozaki, et al.. (2024). RASopathies for Radiologists. Radiographics. 44(5). e230153–e230153. 1 indexed citations

Ishii, Tomohiro, Gen Nishimura, Takeshi Sato, et al.. (2024). RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review. American Journal of Medical Genetics Part A. 194(6). 1 indexed citations

Pettersson, Maria, Dora Dias‐Santagata, Daniel Nilsson, et al.. (2023). Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. Frontiers in Genetics. 14. 1174046–1174046. 5 indexed citations

Handa, Atsuhiko, Gen Nishimura, Taiki Nozaki, et al.. (2023). Pediatric Ribs at Chest Radiography: Normal Variants and Abnormalities. Radiographics. 43(12). e230076–e230076.

Handa, Atsuhiko, Giedré Grigelioniené, & Gen Nishimura. (2023). Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis. Radiographics. 43(5). e220067–e220067. 11 indexed citations

Lee, Hyeran, Jung Min Ko, Yonghwan Kim, et al.. (2021). Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome. Human Genome Variation. 8(1). 17–17. 1 indexed citations

Sawai, Hideaki, et al.. (2021). Development of individuals with thanatophoric dysplasia surviving beyond infancy. Pediatrics International. 64(1). e15007–e15007. 4 indexed citations

10.

Sawai, Hideaki, Kaname Oka, Gen Nishimura, et al.. (2019). National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. Pediatrics International. 61(8). 748–753. 11 indexed citations

11.

Niceta, Marcello, Domenico Barbuti, Neerja Gupta, et al.. (2019). Skeletal abnormalities are common features in Aymé‐Gripp syndrome. Clinical Genetics. 97(2). 362–369. 10 indexed citations

12.

Girisha, Katta M., Gandham SriLakshmi Bhavani, Hitesh Shah, et al.. (2019). Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies. American Journal of Medical Genetics Part A. 182(2). 338–347. 5 indexed citations

13.

Narayanan, Dhanya Lakshmi, et al.. (2018). Report of second case and clinical and molecular characterization of Eiken syndrome. Clinical Genetics. 94(5). 457–460. 11 indexed citations

14.

Pettersson, Maria, Raquel Vaz, Anna Hammarsjö, et al.. (2018). Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias. Human Mutation. 39(10). 1456–1467. 11 indexed citations

15.

Nagasaki, Keisuke, Gen Nishimura, Toru Kikuchi, et al.. (2018). Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes. American Journal of Medical Genetics Part A. 176(3). 739–742. 15 indexed citations

16.

Cho, Tae‐Joon, Shubha R. Phadke, Kalpana Gowrishankar, et al.. (2017). Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations. American Journal of Medical Genetics Part A. 173(3). 588–595. 15 indexed citations

17.

Shiohama, Tadashi, Katsunori Fujii, Kenji Shimizu, et al.. (2017). Progressive subglottic stenosis in a child with Pallister‐Killian syndrome. Congenital Anomalies. 58(3). 102–104. 2 indexed citations

18.

Takagi, Masaki, et al.. (2017). Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica. European Journal of Medical Genetics. 60(12). 635–638. 6 indexed citations

19.

Bonafé, Luisa, Valérie Cormier‐Daire, Christine M Hall, et al.. (2015). Nosology and classification of genetic skeletal disorders: 2015 revision. American Journal of Medical Genetics Part A. 167(12). 2869–2892. 367 indexed citations breakdown →

20.

Matsushita, Masaki, Hiroshi Kitoh, Hiroshi Kaneko, et al.. (2013). A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome. American Journal of Medical Genetics Part A. 161(10). 2528–2534. 23 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.

Explore authors with similar magnitude of impact