A citation-based method for searching scientific literature

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler. Nat Genet 2014
Times Cited: 316







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



Times Cited
  Times     Co-cited
Similarity


Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth-Bolard, Emilie Landais, Odile Boute, Nicole Philip,[...]. Eur J Med Genet 2011
41
2

Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay.
M Upadhyaya, M Ruggieri, J Maynard, M Osborn, C Hartog, S Mudd, M Penttinen, I Cordeiro, M Ponder, B A Ponder,[...]. Hum Genet 1998
124
1

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.
Lisanne Vervoort, Wolfram Demaerel, Laura Y Rengifo, Adrian Odrzywolski, Elfi Vergaelen, Matthew S Hestand, Jeroen Breckpot, Koen Devriendt, Ann Swillen, Donna M McDonald-McGinn,[...]. Hum Mol Genet 2019
3
33

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.
S E Antonarakis, J P Rossiter, M Young, J Horst, P de Moerloose, S S Sommer, R P Ketterling, H H Kazazian, C Négrier, C Vinciguerra,[...]. Blood 1995
235
1

Neuropsychiatric phenotype in relation to gene variants in the hemizygous allele in 3q29 deletion carriers: A case series.
Eva Albertsen Malt, Katalin Juhasz, Anna Frengen, Teresia Wangensteen, Nina Merete Emilsen, Borre Hansen, Oleg Agafonov, Hilde Loge Nilsen. Mol Genet Genomic Med 2019
4
25

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.
Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado. J Med Genet 2019
4
25

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.
A Wischmeijer, P Magini, R Giorda, M Gnoli, R Ciccone, L Cecconi, E Franzoni, L Mazzanti, G Romeo, O Zuffardi,[...]. Mol Syndromol 2011
16
6

Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes. A study of 22 new patients and review of the literature.
S Demczuk, A Lévy, M Aubry, M F Croquette, N Philip, M Prieur, U Sauer, P Bouvagnet, G A Rouleau, G Thomas. Hum Genet 1995
49
2

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.
Maria Delio, Tingwei Guo, Donna M McDonald-McGinn, Elaine Zackai, Sean Herman, Mark Kaminetzky, Anne Marie Higgins, Karlene Coleman, Carolyn Chow, Maria Jalbrzikowski,[...]. Am J Hum Genet 2013
31
3

High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans.
Graham Coop, Xiaoquan Wen, Carole Ober, Jonathan K Pritchard, Molly Przeworski. Science 2008
249
1

Sequence variants in the RNF212 gene associate with genome-wide recombination rate.
Augustine Kong, Gudmar Thorleifsson, Hreinn Stefansson, Gisli Masson, Agnar Helgason, Daniel F Gudbjartsson, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Sverrir Sverrisson, Theodora Thorlacius,[...]. Science 2008
126
1

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
295
1

Comprehensive human genetic maps: individual and sex-specific variation in recombination.
K W Broman, J C Murray, V C Sheffield, R L White, J L Weber. Am J Hum Genet 1998
906
1

Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS.
Elena Michaelovsky, Doron Gothelf, Michael Korostishevsky, Amos Frisch, Merav Burg, Miri Carmel, Tamar Steinberg, Dov Inbar, Alan Apter, Abraham Weizman. Int J Neuropsychopharmacol 2008
39
2

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
315
1

Monozygotic twins with 17q21.31 microdeletion syndrome.
Marketa Vlckova, Miroslava Hancarova, Jana Drabova, Zuzana Slamova, Monika Koudova, Renata Alanova, Katrin Mannik, Ants Kurg, Zdenek Sedlacek. Twin Res Hum Genet 2014
4
25

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region.
L Alison McInnes, Alisa Nakamine, Marion Pilorge, Tracy Brandt, Patricia Jiménez González, Marietha Fallas, Elina R Manghi, Lisa Edelmann, Joseph Glessner, Hakon Hakonarson,[...]. Mol Autism 2010
34
2

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Roberta Lelis Dutra, Patrícia de Campos Pieri, Ana Carolina Dias Teixeira, Rachel Sayuri Honjo, Debora Romeo Bertola, Chong Ae Kim. Clinics (Sao Paulo) 2011
17
5

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Jesse Christiansen, John D Dyck, Basil G Elyas, Margaret Lilley, J Stephen Bamforth, Mark Hicks, Kathleen A Sprysak, Robert Tomaszewski, Shelagh M Haase, Leanne M Vicen-Wyhony,[...]. Circ Res 2004
104
1

Pathways from autism spectrum disorder diagnosis to genetic testing.
Krysta S Barton, Holly K Tabor, Helene Starks, Nanibaa' A Garrison, Mercy Laurino, Wylie Burke. Genet Med 2018
15
6

A high-resolution recombination map of the human genome.
Augustine Kong, Daniel F Gudbjartsson, Jesus Sainz, Gudrun M Jonsdottir, Sigurjon A Gudjonsson, Bjorgvin Richardsson, Sigrun Sigurdardottir, John Barnard, Bjorn Hallbeck, Gisli Masson,[...]. Nat Genet 2002
1

Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
Melissa M Murphy, T Lindsey Burrell, Joseph F Cubells, Roberto Antonio España, Michael J Gambello, Katrina C B Goines, Cheryl Klaiman, Longchuan Li, Derek M Novacek, Ava Papetti,[...]. BMC Psychiatry 2018
11
9

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Anne-Claude Tabet, Marion Pilorge, Richard Delorme, Frédérique Amsellem, Jean-Marc Pinard, Marion Leboyer, Alain Verloes, Brigitte Benzacken, Catalina Betancur. Eur J Hum Genet 2012
28
3



Lateral preference in Williams-Beuren syndrome is associated with cognition and language.
D Pérez-García, R Flores, C Brun-Gasca, L A Pérez-Jurado. Eur Child Adolesc Psychiatry 2015
6
16

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome.
Anne S Bassett, Christian R Marshall, Anath C Lionel, Eva W C Chow, Stephen W Scherer. Hum Mol Genet 2008
127
1

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.
Ruiyu Ma, Linbei Deng, Yan Xia, Xianda Wei, Yingxi Cao, Ruolan Guo, Rui Zhang, Jing Guo, Desheng Liang, Lingqian Wu. Sci Rep 2017
10
10

Sex matters in meiosis.
Patricia A Hunt, Terry J Hassold. Science 2002
280
1

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome.
Sulagna C Saitta, Stacy E Harris, Donna M McDonald-McGinn, Beverly S Emanuel, Melissa K Tonnesen, Elaine H Zackai, Suzanne C Seitz, Deborah A Driscoll. Am J Med Genet A 2004
14
7

Characterizing mutagenic effects of recombination through a sequence-level genetic map.
Bjarni V Halldorsson, Gunnar Palsson, Olafur A Stefansson, Hakon Jonsson, Marteinn T Hardarson, Hannes P Eggertsson, Bjarni Gunnarsson, Asmundur Oddsson, Gisli H Halldorsson, Florian Zink,[...]. Science 2019
56
1

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.
P Sandrin-Garcia, C Macedo, L R Martelli, E S Ramos, M L Guion-Almeida, A Richieri-Costa, G A S Passos. Clin Genet 2002
29
3

Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia.
Osamu Shimokawa, Noriko Miyake, Takazumi Yoshimura, Nadiya Sosonkina, Naoki Harada, Takeshi Mizuguchi, Shinji Kondoh, Tatsuya Kishino, Tohru Ohta, Visser Remco,[...]. Am J Med Genet A 2005
53
1

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
B Grisart, L Willatt, A Destrée, J-P Fryns, K Rack, T de Ravel, J Rosenfeld, J R Vermeesch, C Verellen-Dumoulin, R Sandford. J Med Genet 2009
37
2

Recurrent inversion events at 17q21.31 microdeletion locus are linked to the MAPT H2 haplotype.
P N Rao, W Li, L E L M Vissers, J A Veltman, R A Ophoff. Cytogenet Genome Res 2010
19
5


Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
Lorraine Potocki, Christine J Shaw, Pawel Stankiewicz, James R Lupski. Genet Med 2003
79
1

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Y Q Wu, V R Sutton, E Nickerson, J R Lupski, L Potocki, J R Korenberg, F Greenberg, M Tassabehji, L G Shaffer. Am J Med Genet 1998
77
1


Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion.
Sulagna C Saitta, Stacy E Harris, Ann P Gaeth, Deborah A Driscoll, Donna M McDonald-McGinn, Melissa K Maisenbacher, Jill M Yersak, Prabir K Chakraborty, April M Hacker, Elaine H Zackai,[...]. Hum Mol Genet 2004
102
1


Autism, language delay and mental retardation in a patient with 7q11 duplication.
C Depienne, D Heron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, A Verloes, E LeGuern, M Leboyer, A Brice. J Med Genet 2007
64
1

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects.
S Vittorini, M Sacchelli, M R Iascone, A Collavoli, S Storti, A Giusti, G Andreani, N Botto, A Biagini, A Clerico. Clin Chem Lab Med 2001
14
7



Genomic Analyses of Patients With Unexplained Early-Onset Scoliosis.
Xiaochong Gao, Garrett Gotway, Karl Rathjen, Charles Johnston, Steven Sparagana, Carol A Wise. Spine Deform 2014
6
16

Parental and chromosomal origins of microdeletion and duplication syndromes involving 7q11.23, 15q11-q13 and 22q11.
N Simon Thomas, Miranda Durkie, Gemma Potts, Richard Sandford, Berendine Van Zyl, Sheila Youings, Nicholas R Dennis, Patricia A Jacobs. Eur J Hum Genet 2006
36
2


Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
Dinka Smajlagić, Ksenia Lavrichenko, Siren Berland, Øyvind Helgeland, Gun Peggy Knudsen, Marc Vaudel, Jan Haavik, Per Morten Knappskog, Pål Rasmus Njølstad, Gunnar Houge,[...]. Eur J Hum Genet 2021
3
33

22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin.
S Fokstuen, U Arbenz, S Artan, F Dutly, U Bauersfeld, L Brecevic, M Fasnacht, B Röthlisberger, A Schinzel. Clin Genet 1998
65
1


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.