A citation-based method for searching scientific literature

Elisa Tassano, Patrizia Ronchetto, Annalisa Calcagno, Patrizia Fiorio, Giorgio Gimelli, Valeria Capra, Marcello Scala. J Genet 2019
Times Cited: 1







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



Times Cited
  Times     Co-cited
Similarity


Copy number variants are a common cause of non-syndromic hearing loss.
A Eliot Shearer, Diana L Kolbe, Hela Azaiez, Christina M Sloan, Kathy L Frees, Amy E Weaver, Erika T Clark, Carla J Nishimura, E Ann Black-Ziegelbein, Richard J H Smith. Genome Med 2014
84
100

Simple and efficient germline copy number variant visualization method for the Ion AmpliSeq™ custom panel.
Shin-Ya Nishio, Hideaki Moteki, Shin-Ichi Usami. Mol Genet Genomic Med 2018
10
100

Population analysis of large copy number variants and hotspots of human genetic disease.
Andy Itsara, Gregory M Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M Krauss, Richard M Myers, Paul M Ridker, Daniel I Chasman,[...]. Am J Hum Genet 2009
417
100

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito,[...]. PLoS One 2018
9
100

Newborn hearing screening--a silent revolution.
Cynthia C Morton, Walter E Nance. N Engl J Med 2006
794
100

PECONPI: a novel software for uncovering pathogenic copy number variations in non-syndromic sensorineural hearing loss and other genetically heterogeneous disorders.
Ellen A Tsai, Micah A Berman, Laura K Conlin, Heidi L Rehm, Lauren J Francey, Matthew A Deardorff, Jenelle Holst, Maninder Kaur, Emily Gallant, Dinah M Clark,[...]. Am J Med Genet A 2013
4
100

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

Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing.
Fatima Ammar-Khodja, Crystel Bonnet, Malika Dahmani, Sofiane Ouhab, Gaelle M Lefèvre, Hassina Ibrahim, Jean-Pierre Hardelin, Dominique Weil, Malek Louha, Christine Petit. Mol Genet Genomic Med 2015
29
100

POU4F3 mutation screening in Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis identified novel variants associated with autosomal dominant hearing loss.
Tomohiro Kitano, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Kiyoshi Oda, Kenji Ohyama, Hiromitsu Miyazaki, Hiroshi Hidaka, Ken-Ichi Nakamura, Takaaki Murata,[...]. PLoS One 2017
18
100

Predicting the functional impact of protein mutations: application to cancer genomics.
Boris Reva, Yevgeniy Antipin, Chris Sander. Nucleic Acids Res 2011
100


The sequence and analysis of duplication-rich human chromosome 16.
Joel Martin, Cliff Han, Laurie A Gordon, Astrid Terry, Shyam Prabhakar, Xinwei She, Gary Xie, Uffe Hellsten, Yee Man Chan, Michael Altherr,[...]. Nature 2004
102
100

MutationTaster evaluates disease-causing potential of sequence alterations.
Jana Marie Schwarz, Christian Rödelsperger, Markus Schuelke, Dominik Seelow. Nat Methods 2010
100

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
488
100


Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Hideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, Kevin Booth, Shin-Ya Nishio, Keiko Wakui, Tomomi Yamaguchi, Diana L Kolbe, Yoh-Ichiro Iwasa, A Eliot Shearer,[...]. Ann Otol Rhinol Laryngol 2016
16
100


Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
Christina M Sloan-Heggen, Amanda O Bierer, A Eliot Shearer, Diana L Kolbe, Carla J Nishimura, Kathy L Frees, Sean S Ephraim, Seiji B Shibata, Kevin T Booth, Colleen A Campbell,[...]. Hum Genet 2016
176
100

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.
Ingrid Zwaenepoel, Mirna Mustapha, Michel Leibovici, Elisabeth Verpy, Richard Goodyear, Xue Zhong Liu, Sylvie Nouaille, Walter E Nance, Moien Kanaan, Karen B Avraham,[...]. Proc Natl Acad Sci U S A 2002
108
100

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
100

Targeted sequencing identifies novel variants involved in autosomal recessive hereditary hearing loss in Qatari families.
Moza K Alkowari, Diego Vozzi, Shruti Bhagat, Navaneethakrishnan Krishnamoorthy, Anna Morgan, Yousra Hayder, Barathy Logendra, Nehal Najjar, Ilaria Gandin, Paolo Gasparini,[...]. Mutat Res 2017
8
100

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
Rubén Cabanillas, Marta Diñeiro, Guadalupe A Cifuentes, David Castillo, Patricia C Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz,[...]. BMC Med Genomics 2018
28
100

OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
Yoh-Ichiro Iwasa, Shin-Ya Nishio, Akiko Sugaya, Yuko Kataoka, Yukihiko Kanda, Mirei Taniguchi, Kyoko Nagai, Yasushi Naito, Tetsuo Ikezono, Rie Horie,[...]. PLoS One 2019
11
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

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, Nele Boeckx, Jason J Corneveaux, Jenneke van den Ende, An Boudewyns, Els De Leenheer, Sandra Janssens, Kathleen Claes,[...]. Hum Mutat 2016
40
100

Targeted exon sequencing successfully discovers rare causative genes and clarifies the molecular epidemiology of Japanese deafness patients.
Maiko Miyagawa, Takehiko Naito, Shin-ya Nishio, Naoyuki Kamatani, Shin-ichi Usami. PLoS One 2013
68
100

Clarification of glycosylphosphatidylinositol anchorage of OTOANCORIN and human OTOA variants associated with deafness.
Bong Jik Kim, Dong-Kyu Kim, Jin Hee Han, Jayoung Oh, Ah Reum Kim, Chung Lee, Nayoung Kd Kim, Hye-Rim Park, Min Young Kim, Sejoon Lee,[...]. Hum Mutat 2019
5
100

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.
Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord,[...]. Eur J Hum Genet 2010
61
100

Genomic analysis of a heterogeneous Mendelian phenotype: multiple novel alleles for inherited hearing loss in the Palestinian population.
Tom Walsh, Amal Abu Rayan, Judeh Abu Sa'ed, Hashem Shahin, Jeanne Shepshelovich, Ming K Lee, Koret Hirschberg, Mustafa Tekin, Wa'el Salhab, Karen B Avraham,[...]. Hum Genomics 2006
33
100


TECTA mutations in Japanese with mid-frequency hearing loss affected by zona pellucida domain protein secretion.
Hideaki Moteki, Shin-ya Nishio, Shigenari Hashimoto, Yutaka Takumi, Satoshi Iwasaki, Norihito Takeichi, Satoshi Fukuda, Shin-ichi Usami. J Hum Genet 2012
20
100

Frequency and clinical features of hearing loss caused by STRC deletions.
Yoh Yokota, Hideaki Moteki, Shin-Ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Yumiko Kobayashi, Kenji Ohyama, Hiromitsu Miyazaki, Rina Matsuoka, Satoko Abe,[...]. Sci Rep 2019
15
100

A mouse model for human deafness DFNB22 reveals that hearing impairment is due to a loss of inner hair cell stimulation.
Andrei N Lukashkin, P Kevin Legan, Thomas D Weddell, Victoria A Lukashkina, Richard J Goodyear, Lindsey J Welstead, Christine Petit, Ian J Russell, Guy P Richardson. Proc Natl Acad Sci U S A 2012
40
100

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
100

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.
Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo,[...]. J Med Genet 2015
62
100

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.
K Lee, I Chiu, R L P Santos-Cortez, S Basit, S Khan, Z Azeem, P B Andrade, S S Kim, W Ahmad, S M Leal. Clin Genet 2013
7
100


Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Diana Mandelker, Sami S Amr, Trevor Pugh, Sivakumar Gowrisankar, Rimma Shakhbatyan, Elizabeth Duffy, Mark Bowser, Bryan Harrison, Katherine Lafferty, Lisa Mahanta,[...]. J Mol Diagn 2014
39
100

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.
Guney Bademci, Oscar Diaz-Horta, Shengru Guo, Duygu Duman, Derek Van Booven, Joseph Foster, Filiz Basak Cengiz, Susan Blanton, Mustafa Tekin. Genet Test Mol Biomarkers 2014
23
100


A cysteine substitution in the zona pellucida domain of alpha-tectorin results in autosomal dominant, postlingual, progressive, mid frequency hearing loss in a Spanish family.
M A Moreno-Pelayo, I del Castillo, M Villamar, L Romero, F J Hernández-Calvín, C Herraiz, R Barberá, C Navas, F Moreno. J Med Genet 2001
33
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.