A citation-based method for searching scientific literature

Idit Maya, Lina Basel-Salmon, Ami Singer, Lena Sagi-Dain. Genet Med 2020
Times Cited: 3







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



Times Cited
  Times     Co-cited
Similarity


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
136
100

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
184
66

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
66

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
482
33

The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium.
Setareh Moghadasi, Huong D Meeks, Maaike Pg Vreeswijk, Linda Am Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig,[...]. J Med Genet 2018
27
33


Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks.
Brennan Decker, Jamie Allen, Craig Luccarini, Karen A Pooley, Mitul Shah, Manjeet K Bolla, Qin Wang, Shahana Ahmed, Caroline Baynes, Don M Conroy,[...]. J Med Genet 2017
37
33

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
E H Gerkes, J M Fock, W F A den Dunnen, M J van Belzen, C A van der Lans, E W Hoving, I E Fakkert, M J Smith, D G Evans, M J W Olderode-Berends. Neurogenetics 2016
29
33

APC polymorphisms and the risk of colorectal neoplasia: a HuGE review and meta-analysis.
Jing Liang, Chunqing Lin, Fulan Hu, Fan Wang, Lin Zhu, Xiaoping Yao, Yibaina Wang, Yashuang Zhao. Am J Epidemiol 2013
47
33

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
33

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.
Trilochan Sahoo, Carlos A Bacino, Jennifer R German, Chad A Shaw, Lynne M Bird, Virginia Kimonis, Irinia Anselm, Susan Waisbren, Arthur L Beaudet, Sarika U Peters. Eur J Hum Genet 2007
57
33

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1-BP2) deletion in the UK Biobank.
Simon G Williams, Apostol Nakev, Hui Guo, Simon Frain, Gennadiy Tenin, Anna Liakhovitskaia, Priyanka Saha, James R Priest, Kathryn E Hentges, Bernard D Keavney. Eur J Hum Genet 2020
3
33

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
302
33


When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
27
33

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
33


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
14
33

Genetic disorders in children and young adults: a population study.
P A Baird, T W Anderson, H B Newcombe, R B Lowry. Am J Hum Genet 1988
230
33

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
70
33

Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
Bita Hashemi, Anne Bassett, David Chitayat, Karen Chong, Mark Feldman, Janine Flanagan, Sharan Goobie, Anne Kawamura, Chelsea Lowther, Chitra Prasad,[...]. Am J Med Genet A 2015
26
33

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
33

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
Carolien G F de Kovel, Holger Trucks, Ingo Helbig, Heather C Mefford, Carl Baker, Costin Leu, Christian Kluck, Hiltrud Muhle, Sarah von Spiczak, Philipp Ostertag,[...]. Brain 2010
311
33

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
94
33

Phenotypic variability and genetic susceptibility to genomic disorders.
Santhosh Girirajan, Evan E Eichler. Hum Mol Genet 2010
185
33

Response to Maya et al.
Erin Rooney Riggs, Erica F Andersen, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland, Daniel Pineda-Alvarez,[...]. Genet Med 2020
2
50

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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,[...]. N Engl J Med 2012
353
33


Understanding variable expressivity in microdeletion syndromes.
Joris A Veltman, Han G Brunner. Nat Genet 2010
48
33

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
20
33

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
31
33

CNVs conferring risk of autism or schizophrenia affect cognition in controls.
Hreinn Stefansson, Andreas Meyer-Lindenberg, Stacy Steinberg, Brynja Magnusdottir, Katrin Morgen, Sunna Arnarsdottir, Gyda Bjornsdottir, G Bragi Walters, Gudrun A Jonsdottir, Orla M Doyle,[...]. Nature 2014
371
33


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
170
33

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
159
33

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.
Marianne Doornbos, Birgit Sikkema-Raddatz, Claudia A L Ruijvenkamp, Trijnie Dijkhuizen, Emilia K Bijlsma, Antoinet C J Gijsbers, Yvonne Hilhorst-Hofstee, Roel Hordijk, Krijn T Verbruggen, W S Mieke Kerstjens-Frederikse,[...]. Eur J Med Genet 2009
115
33

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons.
Miguel Angel Pujana, Marga Nadal, Miriam Guitart, Lluís Armengol, Mònica Gratacòs, Xavier Estivill. Eur J Hum Genet 2002
77
33

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
398
33

Phenotypic association of 15q11.2 CNVs of the region of breakpoints 1-2 (BP1-BP2) in a large cohort of samples referred for genetic diagnosis.
K Naga Mohan, Ye Cao, Justin Pham, Sau Wai Cheung, Lori Hoffner, Z Zishuo Ou, Urvashi Surti, Edwin H Cook, Arthur L Beaudet. J Hum Genet 2019
7
33


A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
Bert van der Zwaag, Wouter G Staal, Ron Hochstenbach, Martin Poot, Henk A Spierenburg, Maretha V de Jonge, Nienke E Verbeek, Ruben van 't Slot, Michael A van Es, Frank J Staal,[...]. Am J Med Genet B Neuropsychiatr Genet 2010
69
33

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
78
33


Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Makenzie Saoura, Christopher A Powell, Robert Kopajtich, Ahmad Alahmad, Haya H Al-Balool, Buthaina Albash, Majid Alfadhel, Charlotte L Alston, Enrico Bertini, Penelope E Bonnen,[...]. Hum Mutat 2019
8
33

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
411
33

Array-CGH analysis in patients with intellectual disability and/or congenital malformations in Brazil.
G S Vianna, P F V Medeiros, A F Alves, T O Silva, F S Jehee. Genet Mol Res 2016
7
33

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
286
33

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Lisenka E L M Vissers, Bert B A de Vries, Joris A Veltman. J Med Genet 2010
106
33

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies.
Guillermo Lay-Son, Karena Espinoza, Cecilia Vial, Juan C Rivera, María L Guzmán, Gabriela M Repetto. J Pediatr (Rio J) 2015
6
33

An Xp; Yq translocation causing a novel contiguous gene syndrome in brothers with generalized epilepsy, ichthyosis, and attention deficits.
Michael J Doherty, Ian A Glass, Craig L Bennett, Phil D Cotter, Nate F Watson, Anna L Mitchell, Tom D Bird, Don F Farrell. Epilepsia 2003
34
33


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.