A citation-based method for searching scientific literature

Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti, Jaclyn B Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret Kenna, Kevin T Booth, Hela Azaiez, Andrew Griffith, Karen B Avraham, Hannie Kremer, Heidi L Rehm, Sami S Amr, Ahmad N Abou Tayoun. Hum Mutat 2018
Times Cited: 162







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



Times Cited
  Times     Co-cited
Similarity


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
71

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
226
28

Newborn hearing screening--a silent revolution.
Cynthia C Morton, Walter E Nance. N Engl J Med 2006
884
27

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Hela Azaiez, Kevin T Booth, Sean S Ephraim, Bradley Crone, Elizabeth A Black-Ziegelbein, Robert J Marini, A Eliot Shearer, Christina M Sloan-Heggen, Diana Kolbe, Thomas Casavant,[...]. Am J Hum Genet 2018
106
23

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
20

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
211
17

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
667
14

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
13

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
13

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Denise Yan, Demet Tekin, Guney Bademci, Joseph Foster, F Basak Cengiz, Abhiraami Kannan-Sundhari, Shengru Guo, Rahul Mittal, Bing Zou, Mhamed Grati,[...]. Hum Genet 2016
72
16

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
12

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
11

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
11

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018
160
10

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
10

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
98
10

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald Jc Admiraal,[...]. Eur J Hum Genet 2017
64
15

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
10

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan,[...]. Hum Mutat 2018
66
13


Sensorineural hearing loss in children.
Richard J H Smith, James F Bale, Karl R White. Lancet 2005
432
9


Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing.
Tao Yang, Xiaoming Wei, Yongchuan Chai, Lei Li, Hao Wu. Orphanet J Rare Dis 2013
121
8

Congenital hearing loss.
Anna M H Korver, Richard J H Smith, Guy Van Camp, Mark R Schleiss, Maria A K Bitner-Glindzicz, Lawrence R Lustig, Shin-Ichi Usami, An N Boudewyns. Nat Rev Dis Primers 2017
169
8

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.
Marina T DiStefano, Sarah E Hemphill, Andrea M Oza, Rebecca K Siegert, Andrew R Grant, Madeline Y Hughes, Brandon J Cushman, Hela Azaiez, Kevin T Booth, Alex Chapin,[...]. Genet Med 2019
38
21

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
746
8

Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine,[...]. Sci Rep 2017
39
20

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Guney Bademci, Joseph Foster, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, F Basak Cengiz, Ibis Menendez, Oscar Diaz-Horta, Atefeh Shirkavand, Sirous Zeinali,[...]. Genet Med 2016
90
8


A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
8

Exonic mutations and exon skipping: Lessons learned from DFNA5.
Kevin T Booth, Hela Azaiez, Kimia Kahrizi, Donghong Wang, Yuzhou Zhang, Kathy Frees, Carla Nishimura, Hossein Najmabadi, Richard J Smith. Hum Mutat 2018
31
22

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
156
7

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
7

GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L Snoeckx, Patrick L M Huygen, Delphine Feldmann, Sandrine Marlin, Françoise Denoyelle, Jaroslaw Waligora, Malgorzata Mueller-Malesinska, Agneszka Pollak, Rafal Ploski, Alessandra Murgia,[...]. Am J Hum Genet 2005
343
7

Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Bong Jik Kim, Doo-Yi Oh, Jin Hee Han, Jayoung Oh, Min Young Kim, Hye-Rim Park, Jungirl Seok, Sung-Dong Cho, Sang-Yeon Lee, Yoonjoong Kim,[...]. Genet Med 2020
13
53

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
69
10

A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Mark A DePristo, Eric Banks, Ryan Poplin, Kiran V Garimella, Jared R Maguire, Christopher Hartl, Anthony A Philippakis, Guillermo del Angel, Manuel A Rivas, Matt Hanna,[...]. Nat Genet 2011
7

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
72
9

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, José Gurrola, Allen Simpson, E Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C Giuffre,[...]. Am J Hum Genet 2014
106
7

CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
6

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families.
Zippora Brownstein, Lilach M Friedman, Hashem Shahin, Varda Oron-Karni, Nitzan Kol, Amal Abu Rayyan, Thomas Parzefall, Dorit Lev, Stavit Shalev, Moshe Frydman,[...]. Genome Biol 2011
146
6

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
40
15


Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
264
6

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
59
10

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
25
24

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
F J del Castillo, M Rodríguez-Ballesteros, A Alvarez, T Hutchin, E Leonardi, C A de Oliveira, H Azaiez, Z Brownstein, M R Avenarius, S Marlin,[...]. J Med Genet 2005
222
6

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
287
6

Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
960
6

A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children.
A Eliot Shearer, Jun Shen, Sami Amr, Cynthia C Morton, Richard J Smith. Genet Med 2019
31
19


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.