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



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


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

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.
Sandra Martin Lorenzo, Valérie Nalesso, Claire Chevalier, Marie-Christine Birling, Yann Herault. Mol Autism 2021
2

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

Detection of copy number variants in African goats using whole genome sequence data.
Wilson Nandolo, Gábor Mészáros, Maria Wurzinger, Liveness J Banda, Timothy N Gondwe, Henry A Mulindwa, Helen N Nakimbugwe, Emily L Clark, M Jennifer Woodward-Greene, Mei Liu,[...]. BMC Genomics 2021
0


Identification of biological mechanisms underlying a multidimensional ASD phenotype using machine learning.
Muhammad Asif, Hugo F M C Martiniano, Ana Rita Marques, João Xavier Santos, Joana Vilela, Celia Rasga, Guiomar Oliveira, Francisco M Couto, Astrid M Vicente. Transl Psychiatry 2020
5


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

Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations.
Hela Bellil, Denise Molina-Gomes, Thibaud Quibel, Sophie Roy, Rodolphe Dard, François Vialard, Bérénice Herve. Eur J Med Genet 2020
0

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development.
Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer,[...]. PLoS Genet 2020
2

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.
Hui Pang, Xiaowei Yu, Young Mi Kim, Xianfu Wang, Jeremy K Jinkins, Jianing Yin, Shibo Li, Hongcang Gu. Front Genet 2020
1

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

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Klaus Schmitz-Abe, Guzman Sanchez-Schmitz, Ryan N Doan, R Sean Hill, Maria H Chahrour, Bhaven K Mehta, Sarah Servattalab, Bulent Ataman, Anh-Thu N Lam, Eric M Morrow,[...]. Sci Rep 2020
0


Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A Baribeau, Anne S Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R Marshall, Aparna Prasad,[...]. J Neurodev Disord 2019
4

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

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

Genetic basis of human congenital anomalies of the kidney and urinary tract.
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G Gharavi. J Clin Invest 2018
32

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report.
Jokthan Guivarch, Clarisse Chatel, Jeremie Mortreux, Chantal Missirian, Nicole Philip, François Poinso. J Med Case Rep 2018
1

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability.
Hyo Jeong Kim, Chang Il Park, Jae Woo Lim, Gyung Min Lee, Eunhae Cho, Hyon J Kim. Yonsei Med J 2018
1