A citation-based method for searching scientific literature

Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen, Marisol del Rosario, Alexander Hoischen, Hans Scheffer, Bert B A de Vries, Han G Brunner, Joris A Veltman, Lisenka E L M Vissers. N Engl J Med 2012
Times Cited: 955







List of co-cited articles
536 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
28

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
653
21

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
19

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
617
19

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
18



Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
13

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
906
13

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
12

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
783
11

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries, Marjolein H Willemsen, Tjitske Kleefstra, Katharina Löhner,[...]. Nat Neurosci 2016
214
11

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
306
10

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans,[...]. Nat Genet 2017
214
10

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
9

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
9

Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
8

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
8

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
282
8

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
8

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
85
9

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
223
8


Excess of rare, inherited truncating mutations in autism.
Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana Raja, Bradley P Coe, Holly A Stessman, Zong-Xiao He,[...]. Nat Genet 2015
268
8

Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
553
7

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
297
7

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
6

Rate of de novo mutations and the importance of father's age to disease risk.
Augustine Kong, Michael L Frigge, Gisli Masson, Soren Besenbacher, Patrick Sulem, Gisli Magnusson, Sigurjon A Gudjonsson, Asgeir Sigurdsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir,[...]. Nature 2012
6

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
6

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
98
6

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder,[...]. Nat Genet 2017
150
6

De novo mutations in schizophrenia implicate synaptic networks.
Menachem Fromer, Andrew J Pocklington, David H Kavanagh, Hywel J Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M Ruderfer,[...]. Nature 2014
948
6

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
6

De novo variants in neurodevelopmental disorders with epilepsy.
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Caglayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L Helbig, Bobby P C Koeleman,[...]. Nat Genet 2018
100
6

A de novo paradigm for mental retardation.
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario,[...]. Nat Genet 2010
540
6

Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James D Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger,[...]. Science 2018
53
11

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
6

A framework for the interpretation of de novo mutation in human disease.
Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby,[...]. Nat Genet 2014
506
6

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong,[...]. Neuron 2015
592
6

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
6

De novo gene disruptions in children on the autistic spectrum.
Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-Ha Lee, Giuseppe Narzisi, Anthony Leotta,[...]. Neuron 2012
894
6

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
549
6

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
909
6

Genetics of early onset cognitive impairment.
Hans Hilger Ropers. Annu Rev Genomics Hum Genet 2010
219
5

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
145
5

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
839
5


Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang,[...]. Nat Neurosci 2017
328
5

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
256
5

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
5


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.