A citation-based method for searching scientific literature

Chihiro Abe-Hatano, Aritoshi Iida, Shunichi Kosugi, Yukihide Momozawa, Chikashi Terao, Keiko Ishikawa, Mariko Okubo, Yasuo Hachiya, Hiroya Nishida, Kazuyuki Nakamura, Rie Miyata, Chie Murakami, Kan Takahashi, Kyoko Hoshino, Haruko Sakamoto, Sayaka Ohta, Masaya Kubota, Eri Takeshita, Akihiko Ishiyama, Eiji Nakagawa, Masayuki Sasaki, Mitsuhiro Kato, Naomichi Matsumoto, Yoichiro Kamatani, Michiaki Kubo, Yoshiyuki Takahashi, Jun Natsume, Ken Inoue, Yu-Ichi Goto. Am J Med Genet A 2021
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
Vassiliki Fotaki, Mara Dierssen, Soledad Alcántara, Salvador Martínez, Eulàlia Martí, Caty Casas, Joana Visa, Eduardo Soriano, Xavier Estivill, Maria L Arbonés. Mol Cell Biol 2002
228
100

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
100

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
100

DELLY: structural variant discovery by integrated paired-end and split-read analysis.
Tobias Rausch, Thomas Zichner, Andreas Schlattl, Adrian M Stütz, Vladimir Benes, Jan O Korbel. Bioinformatics 2012
803
100

Prevalence of intellectual disability: a meta-analysis of population-based studies.
Pallab K Maulik, Maya N Mascarenhas, Colin D Mathers, Tarun Dua, Shekhar Saxena. Res Dev Disabil 2011
560
100

A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Zhe Zhang, Joy Norris, Vera Kalscheuer, Tim Wood, Lin Wang, Charles Schwartz, Emil Alexov, Hilde Van Esch. Hum Mol Genet 2013
24
100

Genetics of early onset cognitive impairment.
Hans Hilger Ropers. Annu Rev Genomics Hum Genet 2010
219
100

Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.
Aihua Zhang, Percy Luk Yeung, Chia-Wei Li, Shih-Chieh Tsai, Gia Khanh Dinh, Xiaoyang Wu, Hui Li, J Don Chen. J Biol Chem 2004
70
100

Transcript expression-aware annotation improves rare variant interpretation.
Beryl B Cummings, Konrad J Karczewski, Jack A Kosmicki, Eleanor G Seaby, Nicholas A Watts, Moriel Singer-Berk, Jonathan M Mudge, Juha Karjalainen, F Kyle Satterstrom, Anne H O'Donnell-Luria,[...]. Nature 2020
23
100

A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
106
100

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
Ken Chen, John W Wallis, Michael D McLellan, David E Larson, Joelle M Kalicki, Craig S Pohl, Sean D McGrath, Michael C Wendl, Qunyuan Zhang, Devin P Locke,[...]. Nat Methods 2009
863
100

LUMPY: a probabilistic framework for structural variant discovery.
Ryan M Layer, Colby Chiang, Aaron R Quinlan, Ira M Hall. Genome Biol 2014
535
100

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
Silvia Masnada, Ulrike B S Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W Klee, Brendan C Lanpher, Ralitza H Gavrilova, Matthis Synofzik, Thomas Bast,[...]. Brain 2017
53
100

Spermine promotes pulmonary vascular remodelling and its synthase is a therapeutic target for pulmonary arterial hypertension.
Yang-Yang He, Yi Yan, Xin Jiang, Jun-Han Zhao, Zhe Wang, Tao Wu, Yong Wang, Shan-Shan Guo, Jue Ye, Tian-Yu Lian,[...]. Eur Respir J 2020
2
100

Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
Su-Yon Park, Chang-Seok Ki, Hee-Jin Kim, Jong-Won Kim, Duk Hyun Sung, Byoung Joon Kim, Won Yong Lee. Arch Neurol 2005
22
100

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
363
100

Genetics of recessive cognitive disorders.
Luciana Musante, H Hilger Ropers. Trends Genet 2014
88
100

Functions of Polyamines in Mammals.
Anthony E Pegg. J Biol Chem 2016
228
100

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.
Geert Vandeweyer, Céline Helsmoortel, Anke Van Dijck, Anneke T Vulto-van Silfhout, Bradley P Coe, Raphael Bernier, Jennifer Gerdts, Liesbeth Rooms, Jenneke van den Ende, Madhura Bakshi,[...]. Am J Med Genet C Semin Med Genet 2014
45
100

SATB2 interacts with chromatin-remodeling molecules in differentiating cortical neurons.
Andrea B Gyorgy, Marianna Szemes, Camino de Juan Romero, Victor Tarabykin, Denes V Agoston. Eur J Neurosci 2008
91
100

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.
Cyril Mignot, Aoife C McMahon, Claire Bar, Philippe M Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie-Line Jacquemont, Marilyn Tallot, Mathieu Milh,[...]. Genet Med 2019
22
100

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano,[...]. Biol Psychiatry 2019
46
100

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Jeanne Amiel, Marlene Rio, Loic de Pontual, Richard Redon, Valerie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P Carter, Stanislas Lyonnet, Arnold Munnich,[...]. Am J Hum Genet 2007
184
100


A brief history of triplet repeat diseases.
Helen Budworth, Cynthia T McMurray. Methods Mol Biol 2013
43
100

Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
Katherina Walz, Devon Cohen, Paul M Neilsen, Joseph Foster, Francesco Brancati, Korcan Demir, Richard Fisher, Michelle Moffat, Nienke E Verbeek, Kathrine Bjørgo,[...]. Hum Genet 2015
30
100

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
100


Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.
Toshiyuki Yamamoto, Taichi Imaizumi, Keiko Yamamoto-Shimojima, Yongping Lu, Tomoe Yanagishita, Shino Shimada, Pin Fee Chong, Ryutaro Kira, Riyo Ueda, Akihiko Ishiyama,[...]. Brain Dev 2019
13
100


Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
89
100

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
Alexandros A Polymeris, Alessandra Tessa, Katherine Anagnostopoulou, Anna Rubegni, Daniele Galatolo, Argirios Dinopoulos, Artemis D Gika, Sotiris Youroukos, Eleni Skouteli, Filippo M Santorelli,[...]. J Neurol 2016
16
100

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S Salomons, Birgit Neophytou, Dorothea Moeslinger, Eduard Struys, Olaf A Bodamer, Cornelis Jakobs, Sylvia Stockler-Ipsiroglu. Mol Genet Metab 2009
16
100

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
513
100



Genetics of intellectual disability in consanguineous families.
Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Ralf Herwig, Masoumeh Hosseini, Cornelia Oppitz, Seyedeh Sedigheh Abedini, Vanessa Suckow, Farzaneh Larti,[...]. Mol Psychiatry 2019
59
100

Ankrd11 is a chromatin regulator involved in autism that is essential for neural development.
Denis Gallagher, Anastassia Voronova, Mark A Zander, Gonzalo I Cancino, Alexa Bramall, Matthew P Krause, Clemer Abad, Mustafa Tekin, Paul M Neilsen, David F Callen,[...]. Dev Cell 2015
74
100

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Céline Helsmoortel, Anneke T Vulto-van Silfhout, Bradley P Coe, Geert Vandeweyer, Liesbeth Rooms, Jenneke van den Ende, Janneke H M Schuurs-Hoeijmakers, Carlo L Marcelis, Marjolein H Willemsen, Lisenka E L M Vissers,[...]. Nat Genet 2014
172
100

Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A).
Glòria Arqué, Vassiliki Fotaki, David Fernández, María Martínez de Lagrán, Maria L Arbonés, Mara Dierssen. PLoS One 2008
70
100

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
Vandana Shashi, Maria M Magiera, Dennis Klein, Maha Zaki, Kelly Schoch, Sabine Rudnik-Schöneborn, Andrew Norman, Osorio Lopes Abath Neto, Marina Dusl, Xidi Yuan,[...]. EMBO J 2018
37
100

Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
I Gozes, A Van Dijck, G Hacohen-Kleiman, I Grigg, G Karmon, E Giladi, M Eger, Y Gabet, M Pasmanik-Chor, E Cappuyns,[...]. Transl Psychiatry 2017
34
100

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing.
Marghoob Mohiyuddin, John C Mu, Jian Li, Narges Bani Asadi, Mark B Gerstein, Alexej Abyzov, Wing H Wong, Hugo Y K Lam. Bioinformatics 2015
64
100

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
136
100

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Damian Smedley, Max Schubach, Julius O B Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry,[...]. Am J Hum Genet 2016
98
100

Deep whole-genome sequencing reveals recent selection signatures linked to evolution and disease risk of Japanese.
Yukinori Okada, Yukihide Momozawa, Saori Sakaue, Masahiro Kanai, Kazuyoshi Ishigaki, Masato Akiyama, Toshihiro Kishikawa, Yasumichi Arai, Takashi Sasaki, Kenjiro Kosaki,[...]. Nat Commun 2018
59
100


Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk,[...]. Am J Hum Genet 2011
139
100

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Mari E K Niemi, Hilary C Martin, Daniel L Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, Kerrie McAloney, Jeremy McRae, Elizabeth J Radford, Sui Yu,[...]. Nature 2018
101
100

Mutation update for the SATB2 gene.
Yuri A Zarate, Katherine A Bosanko, Aisling R Caffrey, Jonathan A Bernstein, Donna M Martin, Marc S Williams, Elizabeth M Berry-Kravis, Paul R Mark, Melanie A Manning, Vikas Bhambhani,[...]. Hum Mutat 2019
15
100


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.