A citation-based method for searching scientific literature

Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali, Agnes Zecha, Marzieh Mohseni, Lucia Püttmann, Leyla Nouri Vahid, Corinna Jensen, Lia Abbasi Moheb, Melanie Bienek, Farzaneh Larti, Ines Mueller, Robert Weissmann, Hossein Darvish, Klaus Wrogemann, Valeh Hadavi, Bettina Lipkowitz, Sahar Esmaeeli-Nieh, Dagmar Wieczorek, Roxana Kariminejad, Saghar Ghasemi Firouzabadi, Monika Cohen, Zohreh Fattahi, Imma Rost, Faezeh Mojahedi, Christoph Hertzberg, Atefeh Dehghan, Anna Rajab, Mohammad Javad Soltani Banavandi, Julia Hoffer, Masoumeh Falah, Luciana Musante, Vera Kalscheuer, Reinhard Ullmann, Andreas Walter Kuss, Andreas Tzschach, Kimia Kahrizi, H Hilger Ropers. Nature 2011
Times Cited: 564







List of co-cited articles
579 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
18

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
57
19

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.
Ender Karaca, Tamar Harel, Davut Pehlivan, Shalini N Jhangiani, Tomasz Gambin, Zeynep Coban Akdemir, Claudia Gonzaga-Jauregui, Serkan Erdin, Yavuz Bayram, Ian M Campbell,[...]. Neuron 2015
132
9

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
9

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
306
8

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
7

Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F Brockschmidt, Markus M Nöthen,[...]. Am J Hum Genet 2011
132
7

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
H Hu, S A Haas, J Chelly, H Van Esch, M Raynaud, A P M de Brouwer, S Weinert, G Froyen, S G M Frints, F Laumonnier,[...]. Mol Psychiatry 2016
151
6

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
6

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
6

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Anas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, Taghreed Shuaib, Hussain Al-Shamrani, Yahya H Al-Falki, Saleh M Al-Qahtani, Tarfa Alsheddi, Dilek Colak, Fowzan S Alkuraya. Hum Mutat 2012
46
13

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
574
6

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.
Andres Moreno-De-Luca, Sandra L Helmers, Hui Mao, Thomas G Burns, Amanda M A Melton, Karen R Schmidt, Paul M Fernhoff, David H Ledbetter, Christa L Martin. J Med Genet 2011
103
6

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.
Annemieke J M H Verkerk, Rachel Schot, Belinda Dumee, Karlijn Schellekens, Sigrid Swagemakers, Aida M Bertoli-Avella, Maarten H Lequin, Jeroen Dudink, Paul Govaert, A L van Zwol,[...]. Am J Hum Genet 2009
95
6

MutationTaster2: mutation prediction for the deep-sequencing age.
Jana Marie Schwarz, David N Cooper, Markus Schuelke, Dominik Seelow. Nat Methods 2014
6

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
88
5

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
S Riazuddin, M Hussain, A Razzaq, Z Iqbal, M Shahzad, D L Polla, Y Song, E van Beusekom, A A Khan, L Tomas-Roca,[...]. Mol Psychiatry 2017
58
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
66
7

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
5

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
5

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
955
5



Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
Iris H I M Hollink, Majid Alfadhel, Anwar S Al-Wakeel, Farough Ababneh, Rolph Pfundt, Stella A de Man, Rami Abou Jamra, Arndt Rolfs, Aida M Bertoli-Avella, Ingrid M B H van de Laar. J Hum Genet 2016
17
29

Characterization of a fourth adaptor-related protein complex.
J Hirst, N A Bright, B Rous, M S Robinson. Mol Biol Cell 1999
194
5

AP-4, a novel protein complex related to clathrin adaptors.
E C Dell'Angelica, C Mullins, J S Bonifacino. J Biol Chem 1999
204
5

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Katia Hardies, Patrick May, Tania Djémié, Oana Tarta-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudy Balling, Sarah Weckhuysen,[...]. Hum Mol Genet 2015
33
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
5

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
5


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
5

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
5

The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
Behzad Davarniya, Hao Hu, Kimia Kahrizi, Luciana Musante, Zohreh Fattahi, Masoumeh Hosseini, Fariba Maqsoud, Reza Farajollahi, Thomas F Wienker, H Hilger Ropers,[...]. PLoS One 2015
32
15

TRMT1-Catalyzed tRNA Modifications Are Required for Redox Homeostasis To Ensure Proper Cellular Proliferation and Oxidative Stress Survival.
Joshua M Dewe, Benjamin L Fuller, Jenna M Lentini, Stefanie M Kellner, Dragony Fu. Mol Cell Biol 2017
39
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
5

Autosomal recessive spastic tetraplegia caused by AP4M1 and AP4B1 gene mutation: expansion of the facial and neuroimaging features.
Beyhan Tüysüz, Kaya Bilguvar, Naci Koçer, Cengiz Yalçınkaya, Okay Çağlayan, Ece Gül, Sezgin Sahin, Sinan Çomu, Murat Günel. Am J Med Genet A 2014
33
15

LINS, a modulator of the WNT signaling pathway, is involved in human cognition.
Nadia A Akawi, Fatma Al-Jasmi, Aisha M Al-Shamsi, Bassam R Ali, Lihadh Al-Gazali. Orphanet J Rare Dis 2013
16
25

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
217
4

Genetics of recessive cognitive disorders.
Luciana Musante, H Hilger Ropers. Trends Genet 2014
88
4

Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Hossein Najmabadi, Mohammad Mahdi Motazacker, Masoud Garshasbi, Kimia Kahrizi, Andreas Tzschach, Wei Chen, Farkhondeh Behjati, Valeh Hadavi, Sahar Esmaeeli Nieh, Seyedeh Sedigheh Abedini,[...]. Hum Genet 2007
69
5

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
S Anazi, S Maddirevula, E Faqeih, H Alsedairy, F Alzahrani, H E Shamseldin, N Patel, M Hashem, N Ibrahim, F Abdulwahab,[...]. Mol Psychiatry 2017
102
4

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.
Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fenckova, Pavel Cizek, Frank Honti, Shivakumar Keerthikumar, Merel A W Oortveld, Tjitske Kleefstra, Jamie M Kramer,[...]. Am J Hum Genet 2016
114
4

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
4

LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
Marion Imbert-Bouteille, Frédéric Tran Mau Them, Julien Thevenon, Thomas Guignard, Vincent Gatinois, Jean-Baptiste Riviere, Anne Boland, Vincent Meyer, Jean-François Deleuze, Elodie Sanchez,[...]. Eur J Med Genet 2019
6
66

Novel compound heterozygous variants in the LARP7 gene in a patient with Alazami syndrome.
Sumito Dateki, Tasuku Kitajima, Toshiharu Kihara, Satoshi Watanabe, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi. Hum Genome Var 2018
8
50


SIFT web server: predicting effects of amino acid substitutions on proteins.
Ngak-Leng Sim, Prateek Kumar, Jing Hu, Steven Henikoff, Georg Schneider, Pauline C Ng. Nucleic Acids Res 2012
914
4

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Gaia Novarino, Ali G Fenstermaker, Maha S Zaki, Matan Hofree, Jennifer L Silhavy, Andrew D Heiberg, Mostafa Abdellateef, Basak Rosti, Eric Scott, Lobna Mansour,[...]. Science 2014
311
4

Clinical and genetic characterization of AP4B1-associated SPG47.
Darius Ebrahimi-Fakhari, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin,[...]. Am J Med Genet A 2018
21
19

dbSNP: the NCBI database of genetic variation.
S T Sherry, M H Ward, M Kholodov, J Baker, L Phan, E M Smigielski, K Sirotkin. Nucleic Acids Res 2001
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.