A citation-based method for searching scientific literature

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, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. N Engl J Med 2012
Times Cited: 350



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 shared articles



Times cited

CNV profiles of Chinese pediatric patients with developmental disorders.
Haiming Yuan, Shaofang Shangguan, Zhengchang Li, Jingsi Luo, Jiasun Su, Ruen Yao, Shun Zhang, Chen Liang, Qian Chen, Zhijie Gao,[...]. Genet Med 2021
1

Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants.
Elmo Christian Saarentaus, Aki Samuli Havulinna, Nina Mars, Ari Ahola-Olli, Tuomo Tapio Johannes Kiiskinen, Juulia Partanen, Sanni Ruotsalainen, Mitja Kurki, Lea Martta Urpa, Lei Chen,[...]. Mol Psychiatry 2021
0

Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.
Trenell J Mosley, H Richard Johnston, David J Cutler, Michael E Zwick, Jennifer G Mulle. BMC Med Genomics 2021
0



Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Désir,[...]. Prenat Diagn 2020
1

Copy number variation and neuropsychiatric problems in females and males in the general population.
Joanna Martin, Kristiina Tammimies, Robert Karlsson, Yi Lu, Henrik Larsson, Paul Lichtenstein, Patrik K E Magnusson. Am J Med Genet B Neuropsychiatr Genet 2019
11

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti,[...]. Gene 2019
4

9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Maria Teresa Bonati, Chiara Castronovo, Alessandra Sironi, Dario Zimbalatti, Ilaria Bestetti, Milena Crippa, Antonio Novelli, Sara Loddo, Maria Lisa Dentici, Juliet Taylor,[...]. Neurogenetics 2019
5

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