A citation-based method for searching scientific literature

Joost Kummeling, Diante E Stremmelaar, Nicholas Raun, Margot R F Reijnders, Marjolein H Willemsen, Martina Ruiterkamp-Versteeg, Marga Schepens, Calvin C O Man, Christian Gilissen, Megan T Cho, Kirsty McWalter, Margje Sinnema, James W Wheless, Marleen E H Simon, Casie A Genetti, Alicia M Casey, Paulien A Terhal, Jasper J van der Smagt, Koen L I van Gassen, Pascal Joset, Angela Bahr, Katharina Steindl, Anita Rauch, Elmar Keller, Annick Raas-Rothschild, David A Koolen, Pankaj B Agrawal, Trevor L Hoffman, Nina N Powell-Hamilton, Isabelle Thiffault, Kendra Engleman, Dihong Zhou, Olaf Bodamer, Julia Hoefele, Korbinian M Riedhammer, Eva M C Schwaibold, Velibor Tasic, Dirk Schubert, Deniz Top, Rolph Pfundt, Martin R Higgs, Jamie M Kramer, Tjitske Kleefstra. Mol Psychiatry 2021
Times Cited: 6







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



Times Cited
  Times     Co-cited
Similarity


A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
Kevin C J Nixon, Justine Rousseau, Max H Stone, Mohammed Sarikahya, Sophie Ehresmann, Seiji Mizuno, Naomichi Matsumoto, Noriko Miyake, Diana Baralle, Shane McKee,[...]. Am J Hum Genet 2019
15
33

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
603
33

Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome.
Maude Schneider, Martin Debbané, Anne S Bassett, Eva W C Chow, Wai Lun Alan Fung, Marianne van den Bree, Michael Owen, Kieran C Murphy, Maria Niarchou, Wendy R Kates,[...]. Am J Psychiatry 2014
390
33

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Tarjinder Singh, Mitja I Kurki, David Curtis, Shaun M Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen,[...]. Nat Neurosci 2016
214
33

The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms.
Jacob A S Vorstman, Monique E J Morcus, Sasja N Duijff, Petra W J Klaassen, Josien A Heineman-de Boer, Frits A Beemer, Hanna Swaab, René S Kahn, Herman van Engeland. J Am Acad Child Adolesc Psychiatry 2006
226
33

Dissecting the clinical heterogeneity of autism spectrum disorders through defined genotypes.
Hilgo Bruining, Leo de Sonneville, Hanna Swaab, Maretha de Jonge, Martien Kas, Herman van Engeland, Jacob Vorstman. PLoS One 2010
60
33

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Tjitske Kleefstra, Jamie M Kramer, Kornelia Neveling, Marjolein H Willemsen, Tom S Koemans, Lisenka E L M Vissers, Willemijn Wissink-Lindhout, Michaela Fenckova, Willem M R van den Akker, Nael Nadif Kasri,[...]. Am J Hum Genet 2012
140
33

CRISPR-mediated activation of a promoter or enhancer rescues obesity caused by haploinsufficiency.
Navneet Matharu, Sawitree Rattanasopha, Serena Tamura, Lenka Maliskova, Yi Wang, Adelaide Bernard, Aaron Hardin, Walter L Eckalbar, Christian Vaisse, Nadav Ahituv. Science 2019
95
33

Genetic evidence of gender difference in autism spectrum disorder supports the female-protective effect.
Yi Zhang, Na Li, Chao Li, Ze Zhang, Huajing Teng, Yan Wang, Tingting Zhao, Leisheng Shi, Kun Zhang, Kun Xia,[...]. Transl Psychiatry 2020
15
33

An atypical 12q24.31 microdeletion implicates six genes including a histone demethylase KDM2B and a histone methyltransferase SETD1B in syndromic intellectual disability.
Jonathan D J Labonne, Kang-Han Lee, Shigeki Iwase, Il-Keun Kong, Michael P Diamond, Lawrence C Layman, Cheol-Hee Kim, Hyung-Goo Kim. Hum Genet 2016
27
33

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi, Woutje M Berdowski, Maysoon Alsagob, Ivan Capo, Herma C van der Linde, Paul van den Berg, Edwin H Jacobs, Darija Putar,[...]. Acta Neuropathol 2020
15
33

Writing, erasing and reading histone lysine methylations.
Kwangbeom Hyun, Jongcheol Jeon, Kihyun Park, Jaehoon Kim. Exp Mol Med 2017
300
33

De Novo and Inherited SETD1A Variants in Early-onset Epilepsy.
Xiuya Yu, Lin Yang, Jin Li, Wanxing Li, Dongzhi Li, Ran Wang, Kai Wu, Wenhao Chen, Yi Zhang, Zilong Qiu,[...]. Neurosci Bull 2019
8
33

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala,[...]. Nat Med 2019
71
16

Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH).
Muhammad Naveed, Syeda Khushbakht Kazmi, Mariyam Amin, Zainab Asif, Ushna Islam, Kinza Shahid, Sana Tehreem. Genet Res (Camb) 2018
22
16

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3.
Muhammad Ansar, Hyunglok Chung, Yar M Waryah, Periklis Makrythanasis, Emilie Falconnet, Ali Raza Rao, Michel Guipponi, Ashok K Narsani, Ralph Fingerhut, Federico A Santoni,[...]. Hum Mol Genet 2018
11
16

Insights into genetics, human biology and disease gleaned from family based genomic studies.
Jennifer E Posey, Anne H O'Donnell-Luria, Jessica X Chong, Tamar Harel, Shalini N Jhangiani, Zeynep H Coban Akdemir, Steven Buyske, Davut Pehlivan, Claudia M B Carvalho, Samantha Baxter,[...]. Genet Med 2019
62
16

The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Orion J Buske, François Schiettecatte, Benjamin Hutton, Sergiu Dumitriu, Andriy Misyura, Lijia Huang, Taila Hartley, Marta Girdea, Nara Sobreira, Chris Mungall,[...]. Hum Mutat 2015
28
16

Micro-computed tomography as a platform for exploring Drosophila development.
Todd A Schoborg, Samantha L Smith, Lauren N Smith, H Douglas Morris, Nasser M Rusan. Development 2019
5
20

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.
Wan Hee Yoon, Hector Sandoval, Sonal Nagarkar-Jaiswal, Manish Jaiswal, Shinya Yamamoto, Nele A Haelterman, Nagireddy Putluri, Vasanta Putluri, Arun Sreekumar, Tulay Tos,[...]. Neuron 2017
52
16

The Deciphering Developmental Disorders (DDD) study.
Helen V Firth, Caroline F Wright. Dev Med Child Neurol 2011
87
16

Leap year: Rare day to highlight rare diseases.
Susan M Gasser, James R Lupski, Yann Le Cam, Olivier Menzel. Nature 2012
3
33

Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.
Xi Luo, Jill A Rosenfeld, Shinya Yamamoto, Tamar Harel, Zhongyuan Zuo, Melissa Hall, Klaas J Wierenga, Matthew T Pastore, Dennis Bartholomew, Mauricio R Delgado,[...]. PLoS Genet 2017
34
16

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Hsiao-Tuan Chao, Mariska Davids, Elizabeth Burke, John G Pappas, Jill A Rosenfeld, Alexandra J McCarty, Taylor Davis, Lynne Wolfe, Camilo Toro, Cynthia Tifft,[...]. Am J Hum Genet 2017
48
16

Drosophila neuroblasts: a model for stem cell biology.
Catarina C F Homem, Juergen A Knoblich. Development 2012
239
16

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
Rachel B Ramoni, John J Mulvihill, David R Adams, Patrick Allard, Euan A Ashley, Jonathan A Bernstein, William A Gahl, Rizwan Hamid, Joseph Loscalzo, Alexa T McCray,[...]. Am J Hum Genet 2017
81
16



A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
Kathie J Ngo, Jessica E Rexach, Hane Lee, Lauren E Petty, Susan Perlman, Juliana M Valera, Joshua L Deignan, Yuanming Mao, Mamdouh Aker, Jennifer E Posey,[...]. Hum Mutat 2020
15
16

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
Domenica Taruscio, Stephen C Groft, Helene Cederroth, Béla Melegh, Paul Lasko, Kenjiro Kosaki, Gareth Baynam, Alexa McCray, William A Gahl. Mol Genet Metab 2015
39
16

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.
Muhammad Ansar, Hyung-Lok Chung, Rachel L Taylor, Aamir Nazir, Samina Imtiaz, Muhammad T Sarwar, Alkistis Manousopoulou, Periklis Makrythanasis, Sondas Saeed, Emilie Falconnet,[...]. Am J Hum Genet 2018
14
16

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila.
Clement Y Chow, Keegan J P Kelsey, Mariana F Wolfner, Andrew G Clark. Hum Mol Genet 2016
37
16

Plk4 Regulates Centriole Asymmetry and Spindle Orientation in Neural Stem Cells.
Davide Gambarotto, Carole Pennetier, John M Ryniawec, Daniel W Buster, Delphine Gogendeau, Alix Goupil, Maddalena Nano, Anthony Simon, Damien Blanc, Victor Racine,[...]. Dev Cell 2019
8
16

Drosophila aPKC regulates cell polarity and cell proliferation in neuroblasts and epithelia.
Melissa M Rolls, Roger Albertson, Hsin-Pei Shih, Cheng-Yu Lee, Chris Q Doe. J Cell Biol 2003
213
16

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Yu-Hsin Chao, Laurie A Robak, Fan Xia, Mary K Koenig, Adekunle Adesina, Carlos A Bacino, Fernando Scaglia, Hugo J Bellen, Michael F Wangler. Hum Mol Genet 2016
38
16

The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Michael J Bamshad, Jay A Shendure, David Valle, Ada Hamosh, James R Lupski, Richard A Gibbs, Eric Boerwinkle, Richard P Lifton, Mark Gerstein, Murat Gunel,[...]. Am J Med Genet A 2012
80
16

Comparative Flavivirus-Host Protein Interaction Mapping Reveals Mechanisms of Dengue and Zika Virus Pathogenesis.
Priya S Shah, Nichole Link, Gwendolyn M Jang, Phillip P Sharp, Tongtong Zhu, Danielle L Swaney, Jeffrey R Johnson, John Von Dollen, Holly R Ramage, Laura Satkamp,[...]. Cell 2018
101
16

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019
63
16


FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project.
Chandree L Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E Samuels, Bridget A Fernandez, Francois P Bernier, Michael Brudno, Bartha Knoppers, Janet Marcadier, David Dyment,[...]. Am J Hum Genet 2014
147
16

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.
Claudia Gonzaga-Jauregui, Timothy Lotze, Leila Jamal, Samantha Penney, Ian M Campbell, Davut Pehlivan, Jill V Hunter, Suzanne L Woodbury, Gerald Raymond, Adekunle M Adesina,[...]. JAMA Neurol 2013
40
16

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.
Rotem Kadir, Tamar Harel, Barak Markus, Yonatan Perez, Anna Bakhrat, Idan Cohen, Michael Volodarsky, Miora Feintsein-Linial, Elana Chervinski, Joel Zlotogora,[...]. PLoS Genet 2016
43
16

SEC31A mutation affects ER homeostasis, causing a neurological syndrome.
Daniel Halperin, Rotem Kadir, Yonatan Perez, Max Drabkin, Yuval Yogev, Ohad Wormser, Erez M Berman, Ekaterina Eremenko, Barak Rotblat, Zamir Shorer,[...]. J Med Genet 2019
12
16

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases.
Hugo J Bellen, Michael F Wangler, Shinya Yamamoto. Hum Mol Genet 2019
20
16

The PAR-aPKC system: lessons in polarity.
Atsushi Suzuki, Shigeo Ohno. J Cell Sci 2006
533
16


The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Kym M Boycott, Philippe M Campeau, Heather E Howley, Paul Pavlidis, Sanja Rogic, Christine Oriel, Jason N Berman, Robert M Hamilton, Geoffrey G Hicks, Howard D Lipshitz,[...]. Am J Hum Genet 2020
11
16

A genetic, genomic, and computational resource for exploring neural circuit function.
Fred P Davis, Aljoscha Nern, Serge Picard, Michael B Reiser, Gerald M Rubin, Sean R Eddy, Gilbert L Henry. Elife 2020
48
16

Ubiquilins regulate autophagic flux through mTOR signalling and lysosomal acidification.
Mümine Şentürk, Guang Lin, Zhongyuan Zuo, Dongxue Mao, Emma Watson, Antonios G Mikos, Hugo J Bellen. Nat Cell Biol 2019
57
16

An Asp-CaM complex is required for centrosome-pole cohesion and centrosome inheritance in neural stem cells.
Todd Schoborg, Allison L Zajac, Carey J Fagerstrom, Rodrigo X Guillen, Nasser M Rusan. J Cell Biol 2015
20
16


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.