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

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 →

Peers

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

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20 of 20 papers shown

#	Work	Indexed citations
1	Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders 2025 ·European Journal of Human Genetics ·(unknown), Anna Hammarsjö, (unknown), (unknown), Peter Conner, Nikos Papadogiannakis, (unknown), Laura Orellana, Malin Kvarnung, Helena Malmgren, Kristina Lagerstedt‐Robinson, Ann Nordgren, Anna Lindstrand, Gen Nishimura, Giedré Grigelioniené	1
2	Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology 2024 ·Clinical Genetics ·(unknown), (unknown), Gen Nishimura, Jakob Ek, Mads Bak, M. Cecilia Ljungberg, Kerstin Kutsche, Hanne Hove	3
3	RMRP‐related short stature: A report of six additional Japanese individuals with cartilage hair hypoplasia and literature review 2024 ·American Journal of Medical Genetics Part A ·(unknown), Tomohiro Ishii, Gen Nishimura, Takeshi Sato, (unknown), Keisuke Nagasaki, Yuki Hosokawa, (unknown), Kei Takasawa, Kenichi Kashimada, (unknown), Tomonobu Hasegawa	1
4	RASopathies for Radiologists 2024 ·Radiographics ·Atsuhiko Handa, (unknown), Gen Nishimura, Taiki Nozaki, Tatsuo Kono, Masahiro Jinzaki, (unknown), Susan A. Connolly, T. Shawn Sato, Yutaka Satō	1
5	Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome 2023 ·Frontiers in Genetics ·(unknown), (unknown), Maria Pettersson, Dora Dias‐Santagata, Daniel Nilsson, Anna Hammarsjö, Anna Lindstrand, (unknown), Janey L. Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Gen Nishimura, Giedré Grigelioniené	5
6	Pediatric Ribs at Chest Radiography: Normal Variants and Abnormalities 2023 ·Radiographics ·(unknown), Atsuhiko Handa, Gen Nishimura, Taiki Nozaki, Osamu Miyazaki, Tatsuo Kono, Sarah D. Bixby, Masahiro Jinzaki	0
7	Skeletal Dysplasia Families: A Stepwise Approach to Diagnosis 2023 ·Radiographics ·Atsuhiko Handa, Giedré Grigelioniené, Gen Nishimura	11
8	Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome 2021 ·Human Genome Variation ·(unknown), (unknown), Hyeran Lee, Jung Min Ko, Yonghwan Kim, Murim Choi, Gen Nishimura, (unknown), Tae‐Joon Cho	1
9	Development of individuals with thanatophoric dysplasia surviving beyond infancy 2021 ·Pediatrics International ·(unknown), Hideaki Sawai, Hironao Numabe, Gen Nishimura, Hiroaki Shibahara	4
10	Skeletal abnormalities are common features in Aymé‐Gripp syndrome 2019 ·Clinical Genetics ·Marcello Niceta, Domenico Barbuti, Neerja Gupta, Carlos Ruggiero, Eduardo F. Tizzano, Luitgard Graul‐Neumann, Sabina Barresi, Gen Nishimura, Irene Valenzuela, (unknown), Paula Fernández‐Álvarez, Chiara Leoni, Christiane Zweier, Andreas Tzschach, Emilia Stellacci, Andrea Del Fattore, Bruno Dallapiccola, Giuseppe Zampino, Marco Tartaglia	10
11	Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies 2019 ·American Journal of Medical Genetics Part A ·Katta M. Girisha, Gandham SriLakshmi Bhavani, Hitesh Shah, (unknown), (unknown), Ok‐Hwa Kim, Gen Nishimura, Geert Mortier	5
12	Report of second case and clinical and molecular characterization of Eiken syndrome 2018 ·Clinical Genetics ·(unknown), Dhanya Lakshmi Narayanan, Prince Jacob, Gen Nishimura, Geert Mortier, Katta M. Girisha	11
13	Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias 2018 ·Human Mutation ·Maria Pettersson, Raquel Vaz, Anna Hammarsjö, Jesper Eisfeldt, Claudia M.B. Carvalho, Wolfgang Hofmeister, Emma Tham, Eva Horemuzova, (unknown), Gen Nishimura, (unknown), Ann Nordgren, Daniel Nilsson, Giedré Grigelioniené, Anna Lindstrand	11
14	Nonsense mutations in FZD2 cause autosomal‐dominant omodysplasia: Robinow syndrome‐like phenotypes 2018 ·American Journal of Medical Genetics Part A ·Keisuke Nagasaki, Gen Nishimura, Toru Kikuchi, Hiromi Nyuzuki, (unknown), Yohei Ogawa, Akihiko Saitoh	15
15	Additional three patients with Smith‐McCort dysplasia due to novel RAB33B mutations 2017 ·American Journal of Medical Genetics Part A ·(unknown), Tae‐Joon Cho, Shubha R. Phadke, Kalpana Gowrishankar, Gandham SriLakshmi Bhavani, Anju Shukla, Sujatha Jagadeesh, Ok‐Hwa Kim, Gen Nishimura, Katta M. Girisha	15
16	Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica 2017 ·European Journal of Medical Genetics ·(unknown), Masaki Takagi, (unknown), (unknown), Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Hiroshi Yoshihashi	6
17	Progressive subglottic stenosis in a child with Pallister‐Killian syndrome 2017 ·Congenital Anomalies ·Tadashi Shiohama, Katsunori Fujii, Kenji Shimizu, Hirofumi Ohashi, Tomozumi Takatani, Nobuhiko Okamoto, Gen Nishimura, Mitsuhiro Kato, Naoki Shimojo	2
18	Nosology and classification of genetic skeletal disorders: 2015 revision breakdown → 2015 ·American Journal of Medical Genetics Part A ·Luisa Bonafé, Valérie Cormier‐Daire, Christine M Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence, Jürgen W. Spranger, Andrea Superti‐Furga, Matthew L. Warman, Sheila Unger	367
19	Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2 2014 ·American Journal of Medical Genetics Part A ·(unknown), Ok‐Hwa Kim, Christine M Hall, Amaka C Offiah, Diana Johnson, Dong‐Kyu Jin, Teck‐Hock Toh, Shun Soneda, Dai Keino, (unknown), Tomohiro Ishii, Gen Nishimura, Tomonobu Hasegawa	12
20	A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome 2013 ·American Journal of Medical Genetics Part A ·Masaki Matsushita, Hiroshi Kitoh, Hiroshi Kaneko, Kenichi Mishima, Izumi Kadono, Naoki Ishiguro, Gen Nishimura	23

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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