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: 347



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, W Andrew Faucett, Lars Feuk, Jan M Friedman, Ada Hamosh, Laird Jackson, Erin B Kaminsky, Klaas Kok, Ian D Krantz, Robert M Kuhn, Charles Lee, James M Ostell, Carla Rosenberg, Stephen W Scherer, Nancy B Spinner, Dimitri J Stavropoulos, James H Tepperberg, Erik C Thorland, Joris R Vermeesch, Darrel J Waggoner, Michael S Watson, Christa Lese Martin, David H Ledbetter. Am J Hum Genet 2010
Times Cited: 1457




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


Genetic Testing in Neurodevelopmental Disorders.
Juliann M Savatt, Scott M Myers. Front Pediatr 2021
1


Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.
Rocío N Villar-Quiles, Marta Gomez-Garcia de la Banda, Annie Barois, Celine Bouchet-Séraphin, Norma B Romero, Marlène Rio, Susana Quijano-Roy, Ana Ferreiro. J Neuromuscul Dis 2020
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

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.
Caleb Chu, Haotian Wu, Fangling Xu, Joseph W Ray, Allison Britt, Sally S Robinson, Pamela J Lupo, Christine R C Murphy, Charles F Dreyer, Phillip D K Lee,[...]. Lab Med 2020
0

Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?
Idit Maya, Sharon Perlman, Mordechai Shohat, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifaat Agmon-Fishman, Reut Tomashov Matar, Lina Basel-Salmon, Rivka Sukenik-Halevy. J Clin Med 2020
1

Array-CGH increased the diagnostic rate of developmental delay or intellectual disability in Taiwan.
Chung-Lin Lee, Chen-Hao Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Yen-Jiun Chen, Chao-Ling Chou, Peih-Shan Wu, Chih-Ping Chen, Hsiang-Yu Lin, Shuan-Pei Lin. Pediatr Neonatol 2019
1

Genetics and epigenetics of autism spectrum disorder-current evidence in the field.
Barbara Wiśniowiecka-Kowalnik, Beata Anna Nowakowska. J Appl Genet 2019
39

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

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà,[...]. Int J Mol Sci 2019
12

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
4

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
26


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
30

[Changes in clinical practice related to the arrival of next-generation sequencing in the genetic diagnosis of developmental diseases].
L Demougeot, F Houdayer, A Pélissier, F Mohrez, J Thevenon, Y Duffourd, S Nambot, E Gautier, C Binquet, M Rossi,[...]. Arch Pediatr 2018
0

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

An estimation of the prevalence of genomic disorders using chromosomal microarray data.
Madelyn A Gillentine, Philip J Lupo, Pawel Stankiewicz, Christian P Schaaf. J Hum Genet 2018
14