Norio Niikawa - Concepedia

Author

Norio Niikawa

Also Known As

Gilean A. T. McVean, Hidenobu Soejima, N Niikawa, N. NIIKAWA, N. Niikawa, NORIO NIIKAWA, Niikawa Norio, Norio NIIKAWA, Norio Niikawa

434

Publications

30.3K

Citations

H-Index

207

Concepts

All Affiliations

Nagasaki University Japan Science and Technology Agency Health Sciences University of Hokkaido Hokkaido University Nagasaki Medical Center

About

Norio Niikawa is an author at Nagasaki University specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	52	128	16.7K
2	Natural Sciences	15	17	1.8K
3	Public Health	12	13	5.1K
4	Health Sciences	6	6	354
5	Engineering	2	2	1.4K

Norio Niikawa

218

Publications

21.9K

Citations

H-Index

Page 1

	Year	Citations
A second generation human haplotype map of over 3.1 million SNPs Liuda Ziaugra, Chibuzor Nkwodimmah, Missy Dixon, Nature Haplotype DeterminationGenotype-phenotype AssociationMedicineGeneticsHuman Polymorphism	2007	4.5K
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Sarah Ng, Abigail W. Bigham, Kati J. Buckingham, Nature Genetics EngineeringMendelian DisorderIdentifies Mll2 MutationsMedicineGenetics	2010	1.3K
Mapping Human Genetic Diversity in Asia Mahmood Ameen Abdulla, Ikhlak Ahmed, Anunchai Assawamakin, Science Haplotype DeterminationGenotype-phenotype AssociationMolecular EcologyHuman VariationHaplotype Diversity	2009	723
Haploinsufficiency of NSD1 causes Sotos syndrome Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada, Nature Genetics Clinical DisordersSotos SyndromeNeurological DisorderGenetic DisorderPathology	2002	655
Heterozygous TGFBR2 mutations in Marfan syndrome Takeshi Mizuguchi, Gwenaëlle Collod‐Béroud, Takushi Akiyama, Nature Genetics Marfan SyndromeMendelian DisorderGenetic DisorderGeneticsMolecular Genetics	2004	612
ASC, a Novel 22-kDa Protein, Aggregates during Apoptosis of Human Promyelocytic Leukemia HL-60 Cells Junya Masumoto, Shun’ichiro Taniguchi, Koichi Ayukawa, Journal of Biological Chemistry	1999	538
Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima, The Journal of Pediatrics Developmental AnomalyDevelopmental BiologyProtruding EarsKabuki Make-up SyndromeCraniofacial Growth	1981	534
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Nature Genetics Mendelian DisorderTranslational BiologyDisease MechanismGenetic DisorderGenetics	2012	515
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome Izuho Hatada, Hirofumi Ohashi, Yoshimitsu Fukushima, Nature Genetics Developmental BiologyGenetic DisorderGeneticsMolecular GeneticsImprinted Gene P57kip2	1996	385
Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome Kazuhiko Arima, Akira Kinoshita, Hiroyuki Mishima, Proceedings of the National Academy of Sciences Autoinflammatory DisorderImmunologyProteasomePathologyMolecular Biology	2011	317

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