A citation-based method for searching scientific literature

Kimia Kahrizi, Hao Hu, Masoumeh Hosseini, Vera M Kalscheuer, Zohreh Fattahi, Maryam Beheshtian, Vanessa Suckow, Marzieh Mohseni, Bettina Lipkowitz, Sepideh Mehvari, Zohreh Mehrjoo, Tara Akhtarkhavari, Zhila Ghaderi, Maryam Rahimi, Sanaz Arzhangi, Payman Jamali, Milad Falahat Chian, Pooneh Nikuei, Farahnaz Sabbagh Kermani, Farnaz Sadeghinia, Roshanak Jazayeri, S Hassan Tonekaboni, Atefeh Khoshaeen, Haleh Habibi, Fatemeh Pourfatemi, Faezeh Mojahedi, Mohammad-Reza Khodaie-Ardakani, Reza Najafipour, Thomas F Wienker, Hossein Najmabadi, Hans-Hilger Ropers. Clin Genet 2019
Times Cited: 24







List of co-cited articles
49 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
33


Diagnostic exome sequencing in persons with severe intellectual disability.
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,[...]. N Engl J Med 2012
961
20

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali,[...]. Nature 2011
566
16

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
16

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
16

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
12

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al-Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A Al-Muhaizea,[...]. Hum Genet 2017
115
12

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
56
12

Autosomal dominant intellectual disability.
Dagmar Wieczorek. Med Genet 2018
15
20

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
152
12

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
12

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
12

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
12

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Periklis Makrythanasis, Mari Nelis, Federico A Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané,[...]. Hum Mutat 2014
55
8


Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.
Gabriel A Lazarin, Felicia Hawthorne, Nicholas S Collins, Elizabeth A Platt, Eric A Evans, Imran S Haque. PLoS One 2014
50
8

Genetics of early onset cognitive impairment.
Hans Hilger Ropers. Annu Rev Genomics Hum Genet 2010
219
8

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
815
8

Responsible implementation of expanded carrier screening.
Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili,[...]. Eur J Hum Genet 2016
120
8

Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Elena E Ganusova, Joann Mudge, Ray J Langley, Lu Zhang, Clarence C Lee, Faye D Schilkey,[...]. Sci Transl Med 2011
430
8

A simple salting out procedure for extracting DNA from human nucleated cells.
S A Miller, D D Dykes, H F Polesky. Nucleic Acids Res 1988
8

Genomic characteristics of miscarriage copy number variants.
Hani Bagheri, Eloi Mercier, Ying Qiao, Mary D Stephenson, Evica Rajcan-Separovic. Mol Hum Reprod 2015
18
11


A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
Jing You, Nara L Sobreira, Dustin L Gable, Julie Jurgens, Dorothy K Grange, Newell Belnap, Ashley Siniard, Szabolcs Szelinger, Isabelle Schrauwen, Ryan F Richholt,[...]. Am J Hum Genet 2016
16
12

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
619
8


Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
433
8

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
136
8

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.
Sanna Gudmundsson, Maria Wilbe, Beata Filipek-Górniok, Anna-Maja Molin, Sara Ekvall, Josefin Johansson, Amin Allalou, Hans Gylje, Vera M Kalscheuer, Johan Ledin,[...]. Sci Rep 2019
6
33

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
773
8

Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
R Harripaul, N Vasli, A Mikhailov, M A Rafiq, K Mittal, C Windpassinger, T I Sheikh, A Noor, H Mahmood, S Downey,[...]. Mol Psychiatry 2018
68
8

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh,[...]. J Med Genet 2014
155
8

X-linked intellectual disability update 2017.
Giovanni Neri, Charles E Schwartz, Herbert A Lubs, Roger E Stevenson. Am J Med Genet A 2018
44
8

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.
Reuben J Pengelly, Stephanie Greville-Heygate, Susanne Schmidt, Eleanor G Seaby, M Reza Jabalameli, Sarju G Mehta, Michael J Parker, David Goudie, Christine Fagotto-Kaufmann, Catherine Mercer,[...]. J Med Genet 2016
37
8

The Use of Next-Generation Sequencing for Research and Diagnostics for Intellectual Disability.
Ricardo Harripaul, Abdul Noor, Muhammad Ayub, John B Vincent. Cold Spring Harb Perspect Med 2017
21
9

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

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
8

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
219
8

De novo genic mutations among a Chinese autism spectrum disorder cohort.
Tianyun Wang, Hui Guo, Bo Xiong, Holly A F Stessman, Huidan Wu, Bradley P Coe, Tychele N Turner, Yanling Liu, Wenjing Zhao, Kendra Hoekzema,[...]. Nat Commun 2016
147
8

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Madeleine R Geisheker, Gabriel Heymann, Tianyun Wang, Bradley P Coe, Tychele N Turner, Holly A F Stessman, Kendra Hoekzema, Malin Kvarnung, Marie Shaw, Kathryn Friend,[...]. Nat Neurosci 2017
74
8

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Francisco Martínez, Alfonso Caro-Llopis, Mónica Roselló, Silvestre Oltra, Sonia Mayo, Sandra Monfort, Carmen Orellana. J Med Genet 2017
56
8

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
8

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
98
8

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
657
8

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
Miriam S Reuter, Hasan Tawamie, Rebecca Buchert, Ola Hosny Gebril, Tawfiq Froukh, Christian Thiel, Steffen Uebe, Arif B Ekici, Mandy Krumbiegel, Christiane Zweier,[...]. JAMA Psychiatry 2017
89
8

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
8

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Dorota Monies, Mohammed Abouelhoda, Mirna Assoum, Nabil Moghrabi, Rafiullah Rafiullah, Naif Almontashiri, Mohammed Alowain, Hamad Alzaidan, Moeen Alsayed, Shazia Subhani,[...]. Am J Hum Genet 2019
67
8

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Anas M Alazami, Nisha Patel, Hanan E Shamseldin, Shamsa Anazi, Mohammed S Al-Dosari, Fatema Alzahrani, Hadia Hijazi, Muneera Alshammari, Mohammed A Aldahmesh, Mustafa A Salih,[...]. Cell Rep 2015
220
8

Protein-protein interactions of hCsl4p with other human exosome subunits.
Reinout Raijmakers, Yvet E Noordman, Walther J van Venrooij, Ger J M Pruijn. J Mol Biol 2002
31
4


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.