A citation-based method for searching scientific literature

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
Times Cited: 511



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: 1469




List of shared articles



Times cited

Absence of heterozygosity detected by single-nucleotide polymorphism array in prenatal diagnosis.
J Liu, Z He, S Lin, Y Wang, L Huang, X Huang, Y Luo. Ultrasound Obstet Gynecol 2021
0

Universal chromosomal microarray analysis reveals high proportion of copy-number variants in low-risk pregnancies.
S Stern, N Hacohen, V Meiner, S Yagel, S Zenvirt, S Shkedi-Rafid, M Macarov, D V Valsky, S Porat, N Yanai,[...]. Ultrasound Obstet Gynecol 2021
7

A study of normal copy number variations in Israeli population.
Idit Maya, Pola Smirin-Yosef, Sarit Kahana, Sne Morag, Shiri Yacobson, Ifaat Agmon-Fishman, Reut Matar, Elisheva Bitton, Mordechai Shohat, Lina Basel-Salmon,[...]. Hum Genet 2021
1

The role of chromosomal microarray analysis among fetuses with normal karyotype and single system anomaly or nonspecific sonographic findings.
Annie Sy Hui, Matthew Hoi Kin Chau, Yiu Man Chan, Ye Cao, Angel Hw Kwan, Xiaofan Zhu, Yvonne K Kwok, Zihan Chen, Terence T Lao, Kwong Wai Choy,[...]. Acta Obstet Gynecol Scand 2021
1

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
Yanjie Fan, Lili Wang, Yu Sun, Ting Xu, Zhuwen Gong, Qianfeng Zhao, Wenjuan Qiu, Lili Liang, Bing Xiao, Huiwen Zhang,[...]. J Hum Genet 2021
0

CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.
Silvia Annunziata, Sara Bulgheroni, Stefano D'Arrigo, Silvia Esposito, Matilde Taddei, Veronica Saletti, Enrico Alfei, Francesca Luisa Sciacca, Ambra Rizzo, Chiara Pantaleoni,[...]. J Autism Dev Disord 2021
0

ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
Andre E Minoche, Ben Lundie, Greg B Peters, Thomas Ohnesorg, Mark Pinese, David M Thomas, Andreas Zankl, Tony Roscioli, Nicole Schonrock, Sarah Kummerfeld,[...]. Genome Med 2021
2

Performances of NIPT for copy number variations at different sequencing depths using the semiconductor sequencing platform.
Jiexia Yang, Jing Wu, Haishan Peng, Yaping Hou, Fangfang Guo, Dongmei Wang, Haoxin Ouyang, Yixia Wang, Aihua Yin. Hum Genomics 2021
0


Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center.
Yun Liu, Xiaomei Liu, Dongdong Qin, Yiming Zhao, Xuanlan Cao, Xiaoli Deng, Yu Cheng, Fuping Liu, Fang Yang, Tiesong Zhang,[...]. J Mol Neurosci 2021
0


Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
125

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties.
Karen E Wain, Danielle R Azzariti, Jennifer L Goldstein, Amy Knight Johnson, Patti Krautscheid, Brianna Lepore, Julianne M O'Daniel, Deborah Ritter, Juliann M Savatt, Erin Rooney Riggs,[...]. Genet Med 2020
3

Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array-based detection rate.
Ilaria Catusi, Maria Paola Recalcati, Ilaria Bestetti, Maria Garzo, Chiara Valtorta, Melissa Alfonsi, Alberta Alghisi, Stefania Cappellani, Rosario Casalone, Rossella Caselli,[...]. Mol Genet Genomic Med 2020
4

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

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.
Yu Sun, Xiantao Ye, Yanjie Fan, Lili Wang, Xiaomei Luo, Huili Liu, Xueren Gao, Zhuwen Gong, Yu Wang, Wenjuan Qiu,[...]. Clin Chem 2020
4

Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
Stela Z Berisha, Shashi Shetty, Thomas W Prior, Anna L Mitchell. Birth Defects Res 2020
1