A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker, Heather C Mefford, Jeffrey M Kidd, Sharon R Browning, Brian L Browning, Diane E Dickel, Deborah L Levy, Blake C Ballif, Kathryn Platky, Darren M Farber, Gordon C Gowans, Jessica J Wetherbee, Alexander Asamoah, David D Weaver, Paul R Mark, Jennifer Dickerson, Bhuwan P Garg, Sara A Ellingwood, Rosemarie Smith, Valerie C Banks, Wendy Smith, Marie T McDonald, Joe J Hoo, Beatrice N French, Cindy Hudson, John P Johnson, Jillian R Ozmore, John B Moeschler, Urvashi Surti, Luis F Escobar, Dima El-Khechen, Jerome L Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M McDonald-McGinn, Elaine H Zackai, Matthew A Deardorff, Tamim H Shaikh, Eric Haan, Kathryn L Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E DeLisi, Jonathan Sebat, Mary-Claire King, Lisa G Shaffer, Evan E Eichler. Nat Genet 2010
Times Cited: 411



Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig, Hoda Abdel-Hamid, Patricia Bader, Elizabeth McCracken, Dmitriy Niyazov, Kathleen Leppig, Heidi Thiese, Marybeth Hummel, Nora Alexander, Jerome Gorski, Jennifer Kussmann, Vandana Shashi, Krys Johnson, Catherine Rehder, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. Nat Genet 2011
Times Cited: 799




List of shared articles



Times cited


Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation.
Yulia Mostovoy, Feyza Yilmaz, Stephen K Chow, Catherine Chu, Chin Lin, Elizabeth A Geiger, Naomi J L Meeks, Kathryn C Chatfield, Curtis R Coughlin, Urvashi Surti,[...]. Genetics 2021
0


Chromosomal microarray analysis for pregnancies with or without ultrasound abnormalities in women of advanced maternal age.
Xiaoqing Wu, Gang An, Xiaorui Xie, Linjuan Su, Meiying Cai, Xuemei Chen, Ying Li, Na Lin, Deqin He, Meiying Wang,[...]. J Clin Lab Anal 2020
6

Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.
Lamis Yehia, Marilyn Seyfi, Lisa-Marie Niestroj, Roshan Padmanabhan, Ying Ni, Thomas W Frazier, Dennis Lal, Charis Eng. JAMA Netw Open 2020
2

7q35 Microdeletion and 15q13.3 and Xp22.33 Microduplications in a Patient with Severe Myoclonic Epilepsy, Microcephaly, Dysmorphisms, Severe Psychomotor Delay and Intellectual Disability.
Francesco Paduano, Emma Colao, Sara Loddo, Valeria Orlando, Francesco Trapasso, Antonio Novelli, Nicola Perrotti, Rodolfo Iuliano. Genes (Basel) 2020
0


Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Anna Lengyel, Éva Pinti, Henriett Pikó, Eszter Jávorszky, Dezső David, Mariann Tihanyi, Éva Gönczi, Eszter Kiss, Zsuzsa Tóth, Kálmán Tory,[...]. Eur J Med Genet 2020
0



Experience of chromosomal microarray applied in prenatal and postnatal settings in Hong Kong.
Shirley S W Cheng, Kelvin Y K Chan, Kelphen K P Leung, Patrick K C Au, Wai-Keung Tam, Samuel K M Li, Ho-Ming Luk, Anita S Y Kan, Brian H Y Chung, Ivan F M Lo,[...]. Am J Med Genet C Semin Med Genet 2019
12

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
Matthew Jensen, R Frank Kooy, Tony J Simon, Edwin Reyniers, Santhosh Girirajan, Flora Tassone. Eur J Med Genet 2018
9

Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications.
Kate Wolfe, Andrew McQuillin, Viola Alesi, Elise Boudry Labis, Peter Cutajar, Bruno Dallapiccola, Maria Lisa Dentici, Anne Dieux-Coeslier, Benedicte Duban-Bedu, Tina Duelund Hjortshøj,[...]. Am J Med Genet B Neuropsychiatr Genet 2018
6


A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3.
Ilária C Sgardioli, Elaine Lustosa-Mendes, Ana P Dos Santos, Társis P Vieira, Vera L Gil-da-Silva-Lopes. Cytogenet Genome Res 2018
1

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
M N Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, I van der Werf, S M Waszak, M Zazhytska, I Roberts-Caldeira, N Gheldof,[...]. Mol Psychiatry 2017
36

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

Microarrays in prenatal diagnosis.
Beatrice Oneda, Anita Rauch. Best Pract Res Clin Obstet Gynaecol 2017
20

Copy number variation analysis of patients with intellectual disability from North-West Spain.
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros. Gene 2017
11

Anatomy and Cell Biology of Autism Spectrum Disorder: Lessons from Human Genetics.
Kristel T E Kleijer, Guillaume Huguet, Julie Tastet, Thomas Bourgeron, J P H Burbach. Adv Anat Embryol Cell Biol 2017
7

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
71

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra,[...]. Genome Med 2017
9

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Amy B Wilfert, Arvis Sulovari, Tychele N Turner, Bradley P Coe, Evan E Eichler. Genome Med 2017
52

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
Anne-Claude Tabet, Thomas Rolland, Marie Ducloy, Jonathan Lévy, Julien Buratti, Alexandre Mathieu, Damien Haye, Laurence Perrin, Céline Dupont, Sandrine Passemard,[...]. NPJ Genom Med 2017
21

Copy Number Variation Disorders.
Tamim H Shaikh. Curr Genet Med Rep 2017
10