A citation-based method for searching scientific literature

Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
Times Cited: 174







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



Times Cited
  Times     Co-cited
Similarity


Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis.
M I Srebniak, M Joosten, M F C M Knapen, L R Arends, M Polak, S van Veen, A T J I Go, D Van Opstal. Ultrasound Obstet Gynecol 2018
35
20

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov. Br J Psychiatry 2019
29
24

The Psychological Impact of Prenatal Diagnosis and Disclosure of Susceptibility Loci: First Impressions of Parents' Experiences.
S L van der Steen, S R Riedijk, J Verhagen-Visser, L C P Govaerts, M I Srebniak, D Van Opstal, M Joosten, M F C M Knapen, A Tibben, K E M Diderich,[...]. J Genet Couns 2016
25
24

Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Malgorzata I Srebniak, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Sam Riedijk, Robert Jan H Galjaard, Diane Van Opstal. Eur J Hum Genet 2014
26
23

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Rachel Soemedi, Ana Topf, Ian J Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya,[...]. Hum Mol Genet 2012
70
8

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters. Am J Med Genet A 2013
38
15

Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
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


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
6

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
6

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.
Lluís Armengol, Julián Nevado, Clara Serra-Juhé, Alberto Plaja, Carmen Mediano, Fe Amalia García-Santiago, Manel García-Aragonés, Olaya Villa, Elena Mansilla, Cristina Preciado,[...]. Hum Genet 2012
55
10



Phenotypic features in patients with 15q11.2(BP1-BP2) deletion: further delineation of an emerging syndrome.
Michiala Cafferkey, Joo Wook Ahn, Frances Flinter, Caroline Ogilvie. Am J Med Genet A 2014
33
18


The human clinical phenotypes of altered CHRNA7 copy number.
Madelyn A Gillentine, Christian P Schaaf. Biochem Pharmacol 2015
51
11

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
310
6

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
667
6

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
69
8


Microduplications of 16p11.2 are associated with schizophrenia.
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky,[...]. Nat Genet 2009
460
6

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
6


Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, Gwen M Glew, Anne V Hing, Stephanie Wallace, Patricia I Bader, Aline Hamati, Pamela J Reitnauer, Rosemarie Smith,[...]. Genet Med 2010
113
5

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Malgorzata I Srebniak, Karin Em Diderich, Marieke Joosten, Lutgarde Cp Govaerts, Jeroen Knijnenburg, Femke At de Vries, Marjan Boter, Debora Lont, Maarten Fcm Knapen, Merel C de Wit,[...]. Eur J Hum Genet 2016
35
14


Pregnant couples at increased risk for common aneuploidies choose maximal information from invasive genetic testing.
S L van der Steen, K E M Diderich, S R Riedijk, J Verhagen-Visser, L C P Govaerts, M Joosten, M F C M Knapen, D Van Opstal, M I Srebniak, A Tibben,[...]. Clin Genet 2015
31
16

Understanding variable expressivity in microdeletion syndromes.
Joris A Veltman, Han G Brunner. Nat Genet 2010
48
10

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
110
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
141
5

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
5

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
569
5

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Lisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, Justine Coppinger, Anne M Bandholz, Jay W Ellison, J Britt Ravnan, Beth S Torchia, Blake C Ballif, Allan J Fisher. Prenat Diagn 2012
129
5

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Beatrice Oneda, Rosa Baldinger, Regina Reissmann, Irina Reshetnikova, Pavel Krejci, Rahim Masood, Nicole Ochsenbein-Kölble, Deborah Bartholdi, Katharina Steindl, Denise Morotti,[...]. Prenat Diagn 2014
25
20

Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta-analysis.
F A R Jansen, Y J Blumenfeld, A Fisher, J M Cobben, A O Odibo, A Borrell, M C Haak. Ultrasound Obstet Gynecol 2015
56
8

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega,[...]. Prenat Diagn 2015
146
5

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
389
5

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
A M Maillard, A Ruef, F Pizzagalli, E Migliavacca, L Hippolyte, S Adaszewski, J Dukart, C Ferrari, P Conus, K Männik,[...]. Mol Psychiatry 2015
90
5

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
162
5

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker. Prenat Diagn 2018
28
17

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
5

Clinical variability of the 22q11.2 duplication syndrome.
Christian Wentzel, Maria Fernström, Ylva Ohrner, Göran Annerén, Ann-Charlotte Thuresson. Eur J Med Genet 2008
102
5

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Daniel Moreno-De-Luca, Jennifer G Mulle, Erin B Kaminsky, Stephan J Sanders, Scott M Myers, Margaret P Adam, Amy T Pakula, Nancy J Eisenhauer, Kim Uhas, LuAnn Weik,[...]. Am J Hum Genet 2010
194
5

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
35
14

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O'Donovan,[...]. J Med Genet 2019
36
13

Dilemmas in genetic counseling for low-penetrance neuro-susceptibility loci detected on prenatal chromosomal microarray analysis.
Dana Brabbing-Goldstein, Adi Reches, Ran Svirsky, Anat Bar-Shira, Yuval Yaron. Am J Obstet Gynecol 2018
12
41

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
103
5

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy,[...]. J Med Genet 2019
13
38


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.