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


Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Dennis van der Meer, Ida E Sønderby, Tobias Kaufmann, G Bragi Walters, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J Armstrong, Manon Bernard,[...]. JAMA Psychiatry 2020
18
27

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability.
Saul A Mullen, Gemma L Carvill, Susannah Bellows, Marta A Bayly, Holger Trucks, Dennis Lal, Thoman Sander, Samuel F Berkovic, Leanne M Dibbens, Ingrid E Scheffer,[...]. Neurology 2013
88
4


Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Rachel Soemedi, Ian J Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zelenika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier Granados-Riveron,[...]. Am J Hum Genet 2012
174
4

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Amy Breman, Amber N Pursley, Patricia Hixson, Weimin Bi, Patricia Ward, Carlos A Bacino, Chad Shaw, James R Lupski, Arthur Beaudet, Ankita Patel,[...]. Prenat Diagn 2012
71
5

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping.
D L Bruno, S M White, D Ganesamoorthy, T Burgess, K Butler, S Corrie, D Francis, L Hills, K Prabhakara, C Ngo,[...]. J Med Genet 2011
47
8

An assessment of sex bias in neurodevelopmental disorders.
Andrew Polyak, Jill A Rosenfeld, Santhosh Girirajan. Genome Med 2015
38
10

Copy number variation in bipolar disorder.
E K Green, E Rees, J T R Walters, K-G Smith, L Forty, D Grozeva, J L Moran, P Sklar, S Ripke, K D Chambert,[...]. Mol Psychiatry 2016
90
4

Human copy number variation and complex genetic disease.
Santhosh Girirajan, Catarina D Campbell, Evan E Eichler. Annu Rev Genet 2011
203
4


Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
230
4

Investigation of NRXN1 deletions: clinical and molecular characterization.
Mindy Preston Dabell, Jill A Rosenfeld, Patricia Bader, Luis F Escobar, Dima El-Khechen, Stephanie E Vallee, Mary Beth Palko Dinulos, Cynthia Curry, Jamie Fisher, Raymond Tervo,[...]. Am J Med Genet A 2013
67
5

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam,[...]. Nat Genet 2006
409
4

Excess of rare, inherited truncating mutations in autism.
Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana Raja, Bradley P Coe, Holly A Stessman, Zong-Xiao He,[...]. Nat Genet 2015
260
4

Association of copy number variants with specific ultrasonographically detected fetal anomalies.
Jennifer C Donnelly, Lawrence D Platt, Andrei Rebarber, Julia Zachary, William A Grobman, Ronald J Wapner. Obstet Gynecol 2014
76
5


Chromosomal microarray in fetuses with increased nuchal translucency.
I C B Lund, R Christensen, O B Petersen, I Vogel, E M Vestergaard. Ultrasound Obstet Gynecol 2015
29
13

An exploration of genetic counselors' needs and experiences with prenatal chromosomal microarray testing.
Barbara A Bernhardt, Katherine Kellom, Alexandra Barbarese, W Andrew Faucett, Ronald J Wapner. J Genet Couns 2014
36
11

Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011.
A Novelli, F R Grati, L Ballarati, L Bernardini, D Bizzoco, L Camurri, R Casalone, L Cardarelli, P Cavalli, R Ciccone,[...]. Ultrasound Obstet Gynecol 2012
36
11

Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype.
T Y Leung, I Vogel, T K Lau, W Chong, J A Hyett, O B Petersen, K W Choy. Ultrasound Obstet Gynecol 2011
73
5

Comparing genetic counselor's and patient's perceptions of needs in prenatal chromosomal microarray testing.
Sarah A Walser, Katherine S Kellom, Steven C Palmer, Barbara A Bernhardt. Prenat Diagn 2015
24
16

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications.
D P Locke, R Segraves, R D Nicholls, S Schwartz, D Pinkel, D G Albertson, E E Eichler. J Med Genet 2004
67
5

Population analysis of large copy number variants and hotspots of human genetic disease.
Andy Itsara, Gregory M Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M Krauss, Richard M Myers, Paul M Ridker, Daniel I Chasman,[...]. Am J Hum Genet 2009
403
4

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).
Shirley Rainier, Jing-Hua Chai, Debra Tokarz, Robert D Nicholls, John K Fink. Am J Hum Genet 2003
122
4

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy.
Merlin G Butler, Douglas C Bittel, Nataliya Kibiryeva, Zohreh Talebizadeh, Travis Thompson. Pediatrics 2004
161
4

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.
Jill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, Santhosh Girirajan, Evan E Eichler, Lisa G Shaffer, Blake C Ballif. J Neurodev Disord 2010
102
4

Opposing brain differences in 16p11.2 deletion and duplication carriers.
Abid Y Qureshi, Sophia Mueller, Abraham Z Snyder, Pratik Mukherjee, Jeffrey I Berman, Timothy P L Roberts, Srikantan S Nagarajan, John E Spiro, Wendy K Chung, Elliott H Sherr,[...]. J Neurosci 2014
87
4

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
Loyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, Aurélie Pain, Sandra Martin-Brevet, Carina Ferrari, Philippe Conus, Aurélien Macé, Nouchine Hadjikhani, Andres Metspalu,[...]. Biol Psychiatry 2016
47
8

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella,[...]. Nature 2012
228
4

Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
Lutgarde Govaerts, Malgorzata Srebniak, Karin Diderich, Marieke Joosten, Sam Riedijk, Maarten Knapen, Attie Go, Dimitri Papatsonis, Katja de Graaf, Toon Toolenaar,[...]. Prenat Diagn 2017
6
66

What results to disclose, when, and who decides? Healthcare professionals' views on prenatal chromosomal microarray analysis.
Shiri Shkedi-Rafid, Angela Fenwick, Sandi Dheensa, Diana Wellesley, Anneke M Lucassen. Prenat Diagn 2016
19
21

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
David N Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki. Hum Genet 2013
278
4

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
150
4


"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.
Sarah A Walser, Allison Werner-Lin, Amita Russell, Ronald J Wapner, Barbara A Bernhardt. J Genet Couns 2016
17
23


A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
R G Walters, S Jacquemont, A Valsesia, A J de Smith, D Martinet, J Andersson, M Falchi, F Chen, J Andrieux, S Lobbens,[...]. Nature 2010
305
4

Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
R Akolekar, J Beta, G Picciarelli, C Ogilvie, F D'Antonio. Ultrasound Obstet Gynecol 2015
294
4

Prenatal diagnosis by chromosomal microarray analysis.
Brynn Levy, Ronald Wapner. Fertil Steril 2018
78
5

Microdeletion and microduplication syndromes.
Anja Weise, Kristin Mrasek, Elisabeth Klein, Milene Mulatinho, Juan C Llerena, David Hardekopf, Sona Pekova, Samarth Bhatt, Nadezda Kosyakova, Thomas Liehr. J Histochem Cytochem 2012
68
5

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
66
6


Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Chiara Picinelli, Carla Lintas, Ignazio Stefano Piras, Stefano Gabriele, Roberto Sacco, Claudia Brogna, Antonio Maria Persico. Am J Med Genet B Neuropsychiatr Genet 2016
19
21

Analysis of copy number variations at 15 schizophrenia-associated loci.
Elliott Rees, James T R Walters, Lyudmila Georgieva, Anthony R Isles, Kimberly D Chambert, Alexander L Richards, Gerwyn Mahoney-Davies, Sophie E Legge, Jennifer L Moran, Steven A McCarroll,[...]. Br J Psychiatry 2014
213
4

Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis.
L J Salomon, A Sotiriadis, C B Wulff, A Odibo, R Akolekar. Ultrasound Obstet Gynecol 2019
68
5

Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.
Ida E Sønderby, Ómar Gústafsson, Nhat Trung Doan, Derrek P Hibar, Sandra Martin-Brevet, Abdel Abdellaoui, David Ames, Katrin Amunts, Michael Andersson, Nicola J Armstrong,[...]. Mol Psychiatry 2020
18
22

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study.
Sandra Martin-Brevet, Borja Rodríguez-Herreros, Jared A Nielsen, Clara Moreau, Claudia Modenato, Anne M Maillard, Aurélie Pain, Sonia Richetin, Aia E Jønch, Abid Y Qureshi,[...]. Biol Psychiatry 2018
23
17

Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder.
Olafur O Gudmundsson, G Bragi Walters, Andres Ingason, Stefan Johansson, Tetyana Zayats, Lavinia Athanasiu, Ida Elken Sonderby, Omar Gustafsson, Muhammad S Nawaz, Gudbjorn F Jonsson,[...]. Transl Psychiatry 2019
16
25

Large-scale copy number polymorphism in the human genome.
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
4

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai,[...]. Eur J Hum Genet 2014
76
3


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.