A citation-based method for searching scientific literature

Magdalena Bartnik, Beata Nowakowska, Katarzyna Derwińska, Barbara Wiśniowiecka-Kowalnik, Marta Kędzior, Joanna Bernaciak, Kamila Ziemkiewicz, Tomasz Gambin, Maciej Sykulski, Natalia Bezniakow, Lech Korniszewski, Anna Kutkowska-Kaźmierczak, Jakub Klapecki, Krzysztof Szczałuba, Chad A Shaw, Tadeusz Mazurczak, Anna Gambin, Ewa Obersztyn, Ewa Bocian, Paweł Stankiewicz. J Appl Genet 2014
Times Cited: 30







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



Times Cited
  Times     Co-cited
Similarity


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
40

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
124
26

Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
M Shoukier, N Klein, B Auber, J Wickert, J Schröder, B Zoll, P Burfeind, I Bartels, E A Alsat, M Lingen,[...]. Clin Genet 2013
45
16

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
358
16

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
533
16

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.
C Bonnet, J Andrieux, M Béri-Dexheimer, B Leheup, O Boute, S Manouvrier, B Delobel, H Copin, A Receveur, M Mathieu,[...]. J Med Genet 2010
49
13

Array CGH analysis of a cohort of Russian patients with intellectual disability.
Anna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, Olga A Salyukova, Nataliya N Chechetkina, Ekaterina N Tolmacheva, Elena A Sazhenova, Pamela Magini, Claudio Graziano, Giovanni Romeo,[...]. Gene 2014
30
13


A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
820
13

De novo 10q22 interstitial deletion.
L Cook, D D Weaver, J K Hartsfield, G H Vance. J Med Genet 1999
11
36

Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Andreas Tzschach, Anne-Marie Bisgaard, Maria Kirchhoff, Luitgard M Graul-Neumann, Heidemarie Neitzel, Stephanie Page, Alischo Ahmed, Ines Müller, Fikret Erdogan, Hans-Hilger Ropers,[...]. Eur J Hum Genet 2010
17
23

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
972
13

17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.
Sarah Vergult, Andrew Dauber, Barbara Delle Chiaie, Elke Van Oudenhove, Marleen Simon, Ali Rihani, Bart Loeys, Joel Hirschhorn, Jean Pfotenhauer, John A Phillips,[...]. Eur J Hum Genet 2012
26
15

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
13

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.
Xinyan Lu, Chad A Shaw, Ankita Patel, Jiangzhen Li, M Lance Cooper, William R Wells, Cathy M Sullivan, Trilochan Sahoo, Svetlana A Yatsenko, Carlos A Bacino,[...]. PLoS One 2007
164
10


Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, T de Ravel, S Van Vooren, I Balikova, L Backx,[...]. J Med Genet 2006
314
10


Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.
Gurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, Charles Shaw-Smith, Julian P T Higgins, Hilary Burton. Genet Med 2009
149
10

Genetics of early onset cognitive impairment.
Hans Hilger Ropers. Annu Rev Genomics Hum Genet 2010
228
10

Microdeletion at 4q21.3 is associated with intellectual disability, dysmorphic facies, hypotonia, and short stature.
Lynn Dukes-Rimsky, Gregory F Guzauskas, Kenton R Holden, Rachel Griggs, Sydney Ladd, Maria del Carmen Montoya, Barbara R DuPont, Anand K Srivastava. Am J Med Genet A 2011
10
30

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
Elizabeth Bhoj, Sara Halbach, Donna McDonald-McGinn, Christopher Tan, Rachel Lande, Darrel Waggoner, Elaine Zackai. Am J Med Genet A 2013
14
21

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
126
10

Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals - results from four years' clinical application for over 8,700 patients.
Joo Wook Ahn, Susan Bint, Anne Bergbaum, Kathy Mann, Richard P Hall, Caroline Mackie Ogilvie. Mol Cytogenet 2013
37
10

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian Thiel, Franz Rüschendorf,[...]. Am J Med Genet A 2006
230
10

Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.
Rodrigo Roncato Pereira, Irene Plaza Pinto, Lysa Bernardes Minasi, Aldaires Vieira de Melo, Damiana Mirian da Cruz e Cunha, Alex Silva Cruz, Cristiano Luiz Ribeiro, Cláudio Carlos da Silva, Daniela de Melo e Silva, Aparecido Divino da Cruz. PLoS One 2014
5
60

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.
Bixia Xiang, Hongbo Zhu, Yiping Shen, David T Miller, Kangmo Lu, Xiaofeng Hu, Hans C Andersson, Tarachandra M Narumanchi, Yueying Wang, Jose E Martinez,[...]. J Mol Diagn 2010
56
10

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32.
K S Reddy, R Mardach, H Bass. Cytogenet Genome Res 2011
9
33

Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.
Nicolien M Hanemaaijer, Birgit Sikkema-Raddatz, Gerben van der Vries, Trijnie Dijkhuizen, Roel Hordijk, Anthonie J van Essen, Hermine E Veenstra-Knol, Wilhelmina S Kerstjens-Frederikse, Johanna C Herkert, Erica H Gerkes,[...]. Eur J Hum Genet 2012
48
10

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
185
10

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
10

De Novo 1.77-Mb Microdeletion of 10q22.2q22.3 in a Girl With Developmental Delay, Speech Delay, Congenital Cleft Palate, and Bilateral Hearing Impairment.
Ting-Ying Lei, Hong-Tao Wang, Fan Li, Ying-Qiu Cui, Fang Fu, Ru Li, Can Liao. Cleft Palate Craniofac J 2017
3
100

Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.
Douglas R Stewart, Alexander Pemov, Jennifer J Johnston, Julie C Sapp, Meredith Yeager, Ji He, Joseph F Boland, Laurie Burdett, Christina Brown, Richard A Gatti,[...]. PLoS One 2014
25
12

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, William J Craigen, Stephan J Sanders, Andrea Lehmann,[...]. Am J Hum Genet 2017
42
10

A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.
Moira Blyth, Shuwen Huang, Viv Maloney, John A Crolla, I Karen Temple. Eur J Med Genet 2008
25
12

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
290
10

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay.
Guylaine D'Amours, Mathieu Langlois, Géraldine Mathonnet, Raouf Fetni, Sonia Nizard, Myriam Srour, Frédérique Tihy, Michael S Phillips, Jacques L Michaud, Emmanuelle Lemyre. BMC Med Genomics 2014
11
27

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Gerarda Cappuccio, Francesco Vitiello, Alberto Casertano, Paolo Fontana, Rita Genesio, Dario Bruzzese, Virginia Maria Ginocchio, Angela Mormile, Lucio Nitsch, Generoso Andria,[...]. Ital J Pediatr 2016
10
30

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
174
10

Clinical significance of de novo and inherited copy-number variation.
Anneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, Janneke H M Schuurs-Hoeijmakers, Stephen Meader, Claudia J M Hellebrekers, Ilse J M Thoonen, Arjan P M de Brouwer, Han G Brunner, Caleb Webber,[...]. Hum Mutat 2013
79
6

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Antoinet C J Gijsbers, Janet Y K Lew, Cathy A J Bosch, Janneke H M Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S den Hollander, Sarina G Kant, Emilia K Bijlsma, Martijn H Breuning, Egbert Bakker,[...]. Eur J Hum Genet 2009
55
6

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
6

Clinical whole exome sequencing in child neurology practice.
Siddharth Srivastava, Julie S Cohen, Hilary Vernon, Kristin Barañano, Rebecca McClellan, Leila Jamal, SakkuBai Naidu, Ali Fatemi. Ann Neurol 2014
159
6

Fragile X and X-linked intellectual disability: four decades of discovery.
Herbert A Lubs, Roger E Stevenson, Charles E Schwartz. Am J Hum Genet 2012
137
6

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
641
6

Exome sequencing can improve diagnosis and alter patient management.
Tracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E Schaffer, Jesus Olvera, Vineet Bafna, Maha S Zaki, Ghada H Abdel-Salam,[...]. Sci Transl Med 2012
182
6

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
987
6

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation.
J M Friedman, Agnes Baross, Allen D Delaney, Adrian Ally, Laura Arbour, Linlea Armstrong, Jennifer Asano, Dione K Bailey, Sarah Barber, Patricia Birch,[...]. Am J Hum Genet 2006
213
6

Variation of BMP3 contributes to dog breed skull diversity.
Jeffrey J Schoenebeck, Sarah A Hutchinson, Alexandra Byers, Holly C Beale, Blake Carrington, Daniel L Faden, Maud Rimbault, Brennan Decker, Jeffrey M Kidd, Raman Sood,[...]. PLoS Genet 2012
99
6

A 4q21-q22 deletion in a girl with severe growth retardation.
N Harada, T Nagai, O Shimokawa, N Niikawa, N Matsumoto. Clin Genet 2002
15
13


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.