A citation-based method for searching scientific literature

Yumi Yamaguchi-Kabata, Jun Yasuda, Akira Uruno, Kazuro Shimokawa, Seizo Koshiba, Yoichi Suzuki, Nobuo Fuse, Hiroshi Kawame, Shu Tadaka, Masao Nagasaki, Kaname Kojima, Fumiki Katsuoka, Kazuki Kumada, Osamu Tanabe, Gen Tamiya, Nobuo Yaegashi, Kengo Kinoshita, Masayuki Yamamoto, Shigeo Kure. Hum Genet 2019
Times Cited: 2







List of co-cited articles
articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Comprehensive genetic testing approach for major inherited kidney diseases, using next-generation sequencing with a custom panel.
Takayasu Mori, Kazuyoshi Hosomichi, Motoko Chiga, Shintaro Mandai, Hirofumi Nakaoka, Eisei Sohara, Tomokazu Okado, Tatemitsu Rai, Sei Sasaki, Ituro Inoue,[...]. Clin Exp Nephrol 2017
34
50

Genetic Misdiagnoses and the Potential for Health Disparities.
Arjun K Manrai, Birgit H Funke, Heidi L Rehm, Morten S Olesen, Bradley A Maron, Peter Szolovits, David M Margulies, Joseph Loscalzo, Isaac S Kohane. N Engl J Med 2016
320
50

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
50

Four novel mutations in the thiazide-sensitive Na-Cl co-transporter gene in Japanese patients with Gitelman's syndrome.
Nobuki Maki, Atsushi Komatsuda, Hideki Wakui, Hiroshi Ohtani, Akihiko Kigawa, Namiko Aiba, Keiko Hamai, Mutsuhito Motegi, Akihiko Yamaguchi, Hirokazu Imai,[...]. Nephrol Dial Transplant 2004
41
50


Hypokalemic rhabdomyolysis in a child with Gitelman's syndrome.
Hideki Kumagai, Shizuko Matsumoto, Kandai Nozu. Pediatr Nephrol 2010
10
50

Gitelman syndrome: consensus and guidance from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Anne Blanchard, Detlef Bockenhauer, Davide Bolignano, Lorenzo A Calò, Etienne Cosyns, Olivier Devuyst, David H Ellison, Fiona E Karet Frankl, Nine V A M Knoers, Martin Konrad,[...]. Kidney Int 2017
109
50

Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Junya Fujimura, Kandai Nozu, Tomohiko Yamamura, Shogo Minamikawa, Keita Nakanishi, Tomoko Horinouchi, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima,[...]. Kidney Int Rep 2018
12
50

Functional confirmation of Gitelman's syndrome mutations in Japanese.
Hiroaki Naraba, Yoshihiro Kokubo, Hitonobu Tomoike, Naoharu Iwai. Hypertens Res 2005
11
50

A new familial disorder characterized by hypokalemia and hypomagnesemia.
H J Gitelman, J B Graham, L G Welt. Trans Assoc Am Physicians 1966
376
50


iJGVD: an integrative Japanese genome variation database based on whole-genome sequencing.
Yumi Yamaguchi-Kabata, Naoki Nariai, Yosuke Kawai, Yukuto Sato, Kaname Kojima, Minoru Tateno, Fumiki Katsuoka, Jun Yasuda, Masayuki Yamamoto, Masao Nagasaki. Hum Genome Var 2015
80
50

Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
Toshimi Michigami, Takayuki Uchihashi, Akira Suzuki, Kanako Tachikawa, Shigeo Nakajima, Keiichi Ozono. Eur J Pediatr 2005
57
50

Long-read sequencing and de novo assembly of a Chinese genome.
Lingling Shi, Yunfei Guo, Chengliang Dong, John Huddleston, Hui Yang, Xiaolu Han, Aisi Fu, Quan Li, Na Li, Siyi Gong,[...]. Nat Commun 2016
133
50

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Victor L Ruiz-Perez, Stuart W J Tompson, Helen J Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O Silva, Ben Hamel, John L Gibbs, Ian D Young, Michael J Wright,[...]. Am J Hum Genet 2003
123
50


ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
50

Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
268
50

Clinical and genetic aspects of hypophosphatasia in Japanese patients.
Takeshi Taketani, Kazumichi Onigata, Hironori Kobayashi, Yuichi Mushimoto, Seiji Fukuda, Seiji Yamaguchi. Arch Dis Child 2014
59
50

3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.
Shu Tadaka, Fumiki Katsuoka, Masao Ueki, Kaname Kojima, Satoshi Makino, Sakae Saito, Akihito Otsuki, Chinatsu Gocho, Mika Sakurai-Yageta, Inaho Danjoh,[...]. Hum Genome Var 2019
44
50

The skeletal dysplasias.
Deborah Krakow, David L Rimoin. Genet Med 2010
109
50

Discordant fetal phenotype of hypophosphatasia in two siblings.
Satoru Ikenoue, Kei Miyakoshi, Tomohiro Ishii, Yu Sato, Toshimitsu Otani, Yohei Akiba, Yoshifumi Kasuga, Daigo Ochiai, Tadashi Matsumoto, Yosuke Ichihashi,[...]. Am J Med Genet A 2018
7
50

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia.
K Ozono, M Yamagata, T Michigami, S Nakajima, N Sakai, G Cai, K Satomura, N Yasui, S Okada, M Nakayama. J Clin Endocrinol Metab 1996
63
50

Nosology and classification of genetic skeletal disorders: 2015 revision.
Luisa Bonafe, Valerie Cormier-Daire, Christine Hall, Ralph Lachman, Geert Mortier, Stefan Mundlos, Gen Nishimura, Luca Sangiorgi, Ravi Savarirayan, David Sillence,[...]. Am J Med Genet A 2015
316
50

The Tohoku Medical Megabank Project: Design and Mission.
Shinichi Kuriyama, Nobuo Yaegashi, Fuji Nagami, Tomohiko Arai, Yoshio Kawaguchi, Noriko Osumi, Masaki Sakaida, Yoichi Suzuki, Keiko Nakayama, Hiroaki Hashizume,[...]. J Epidemiol 2016
120
50

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Jun-Seok Bae, Nayoung K D Kim, Chung Lee, Sang Cheol Kim, Hey Ran Lee, Hae-Ryong Song, Kun Bo Park, Hyun Woo Kim, Soon Hyuck Lee, Ha Yong Kim,[...]. Genet Med 2016
15
50

Novel compound heterozygous mutations in DYNC2H1 in a patient with severe short-rib polydactyly syndrome type III phenotype.
Toshio Okamoto, Ken Nagaya, Yumi Kawata, Hiroko Asai, Etsushi Tsuchida, Fumikatsu Nohara, Kazuki Okajima, Hiroshi Azuma. Congenit Anom (Kyoto) 2015
12
50

[Clinical analysis of 21 cases with short fetal femur in the third trimester].
Y Ren, Y Q You, H H Zhou, L X Wang, H Xu, R B Li, S J Wang, X X Xie, Y G Meng, Y P Lu. Zhonghua Fu Chan Ke Za Zhi 2017
4
50

Osteogenesis imperfecta.
Antonella Forlino, Joan C Marini. Lancet 2016
394
50

Hypophosphatasia.
Etienne Mornet. Best Pract Res Clin Rheumatol 2008
81
50

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
50

Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Atsushi Watanabe, Tatsuki Karasugi, Hideaki Sawai, Banyar Than Naing, Shiro Ikegawa, Hideo Orimo, Takashi Shimada. J Hum Genet 2011
40
50

Human Gene Mutation Database (HGMD): 2003 update.
Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper. Hum Mutat 2003
50


Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Agnès Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet-Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat,[...]. Mol Genet Metab 2015
38
50

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
50

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
791
50

The birth prevalence rates for the skeletal dysplasias.
I M Orioli, E E Castilla, J G Barbosa-Neto. J Med Genet 1986
217
50


Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.
Zeng Zhang, Kun Bao, Jin-Wei He, Wen-Zhen Fu, Chang-Qing Zhang, Zhen-Lin Zhang. Gene 2012
4
50


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.