A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. N Engl J Med 2012
Times Cited: 350







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



Times Cited
  Times     Co-cited
Similarity


Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.
Thomas Arbogast, Abdel-Mouttalib Ouagazzal, Claire Chevalier, Maksym Kopanitsa, Nurudeen Afinowi, Eugenia Migliavacca, Belinda S Cowling, Marie-Christine Birling, Marie-France Champy, Alexandre Reymond,[...]. PLoS Genet 2016
54
12

Detection of large-scale variation in the human genome.
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
7

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Dan Levy, Michael Ronemus, Boris Yamrom, Yoon-ha Lee, Anthony Leotta, Jude Kendall, Steven Marks, B Lakshmi, Deepa Pai, Kenny Ye,[...]. Neuron 2011
430
7

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
314
7

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
E K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, A van Haeringen, D E Fransen van de Putte, B-M Anderlid, J Lundin, P Lapunzina, L A Pérez Jurado, B Delle Chiaie,[...]. Eur J Med Genet 2009
167
7

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
625
7

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Mari E K Niemi, Hilary C Martin, Daniel L Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, Kerrie McAloney, Jeremy McRae, Elizabeth J Radford, Sui Yu,[...]. Nature 2018
99
7


15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia.
M O Ulfarsson, G B Walters, O Gustafsson, S Steinberg, A Silva, O M Doyle, M Brammer, D F Gudbjartsson, S Arnarsdottir, G A Jonsdottir,[...]. Transl Psychiatry 2017
37
18

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
61
11


Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
7

Psychiatric disorders in children with 16p11.2 deletion and duplication.
Maria Niarchou, Samuel J R A Chawner, Joanne L Doherty, Anne M Maillard, Sébastien Jacquemont, Wendy K Chung, LeeAnne Green-Snyder, Raphael A Bernier, Robin P Goin-Kochel, Ellen Hanson,[...]. Transl Psychiatry 2019
42
16

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

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence,[...]. J Med Genet 2009
158
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



Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
114
6

Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
554
6

An assessment of sex bias in neurodevelopmental disorders.
Andrew Polyak, Jill A Rosenfeld, Santhosh Girirajan. Genome Med 2015
40
15

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Andres Moreno-De-Luca, David W Evans, K B Boomer, Ellen Hanson, Raphael Bernier, Robin P Goin-Kochel, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, Mylissa M Slane,[...]. JAMA Psychiatry 2015
86
6

Copy number variations and cognitive phenotypes in unselected populations.
Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L Guyatt, Hashem A Shihab, Anne M Maillard, Helene Alavere, Anneli Kolk, Anu Reigo,[...]. JAMA 2015
84
7

Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects.
Kimberley M Kendall, Elliott Rees, Valentina Escott-Price, Mark Einon, Rhys Thomas, Jonathan Hewitt, Michael C O'Donovan, Michael J Owen, James T R Walters, George Kirov. Biol Psychiatry 2017
71
8

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Kyle J Steinman, Sarah J Spence, Melissa B Ramocki, Monica B Proud, Sudha K Kessler, Elysa J Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K Chung,[...]. Am J Med Genet A 2016
70
8

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay.
Rachel D Burnside, Romela Pasion, Fady M Mikhail, Andrew J Carroll, Nathaniel H Robin, Erin L Youngs, Inder K Gadi, Elizabeth Keitges, Vikram L Jaswaney, Peter R Papenhausen,[...]. Hum Genet 2011
158
6


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

Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
637
5



TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
5

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
259
5

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Kristiina Tammimies, Christian R Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Anath C Lionel, Ryan K C Yuen, Mohammed Uddin, Wendy Roberts, Rosanna Weksberg,[...]. JAMA 2015
195
5

22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
369
5

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
380
5

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.
Sarah R Gilman, Ivan Iossifov, Dan Levy, Michael Ronemus, Michael Wigler, Dennis Vitkup. Neuron 2011
425
5

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
5

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.
Gregory Costain, Anath C Lionel, Daniele Merico, Pamela Forsythe, Kathryn Russell, Chelsea Lowther, Tracy Yuen, Janice Husted, Dimitri J Stavropoulos, Marsha Speevak,[...]. Hum Mol Genet 2013
82
6

Autism genetics: opportunities and challenges for clinical translation.
Jacob A S Vorstman, Jeremy R Parr, Daniel Moreno-De-Luca, Richard J L Anney, John I Nurnberger, Joachim F Hallmayer. Nat Rev Genet 2017
162
5

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
Andres Moreno-De-Luca, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, David W Evans, David H Ledbetter. Lancet Neurol 2013
168
5

Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Jill A Rosenfeld, Blake C Ballif, Beth S Torchia, Trilochan Sahoo, J Britt Ravnan, Roger Schultz, Allen Lamb, Bassem A Bejjani, Lisa G Shaffer. Genet Med 2010
84
5


Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2014.
Jon Baio, Lisa Wiggins, Deborah L Christensen, Matthew J Maenner, Julie Daniels, Zachary Warren, Margaret Kurzius-Spencer, Walter Zahorodny, Cordelia Robinson Rosenberg, Tiffany White,[...]. MMWR Surveill Summ 2018
5

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder.
Bridget A Fernandez, Wendy Roberts, Brian Chung, Rosanna Weksberg, Stephen Meyn, Peter Szatmari, Ann M Joseph-George, Sara Mackay, Kathy Whitten, Barbara Noble,[...]. J Med Genet 2010
162
5

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
5

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.
Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T Weiner, Paola Lepanto, Komal Vadodaria,[...]. Nat Commun 2018
16
31

Kctd13 deletion reduces synaptic transmission via increased RhoA.
Christine Ochoa Escamilla, Irina Filonova, Angela K Walker, Zhong X Xuan, Roopashri Holehonnur, Felipe Espinosa, Shunan Liu, Summer B Thyme, Isabel A López-García, Dorian B Mendoza,[...]. Nature 2017
48
10

Behavioral abnormalities and circuit defects in the basal ganglia of a mouse model of 16p11.2 deletion syndrome.
Thomas Portmann, Mu Yang, Rong Mao, Georgia Panagiotakos, Jacob Ellegood, Gul Dolen, Patrick L Bader, Brad A Grueter, Carleton Goold, Elaine Fisher,[...]. Cell Rep 2014
112
5

Genome-wide prediction and functional characterization of the genetic basis of autism spectrum disorder.
Arjun Krishnan, Ran Zhang, Victoria Yao, Chandra L Theesfeld, Aaron K Wong, Alicja Tadych, Natalia Volfovsky, Alan Packer, Alex Lash, Olga G Troyanskaya. Nat Neurosci 2016
141
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.