A citation-based method for searching scientific literature

A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
Times Cited: 2061



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: 1485




List of shared articles



Times cited

DeepCNV: a deep learning approach for authenticating copy number variations.
Joseph T Glessner, Xiurui Hou, Cheng Zhong, Jie Zhang, Munir Khan, Fabian Brand, Peter Krawitz, Patrick M A Sleiman, Hakon Hakonarson, Zhi Wei. Brief Bioinform 2021
0

Low-pass genome sequencing: a validated method in clinical cytogenetics.
Matthew Hoi Kin Chau, Huilin Wang, Yunli Lai, Yanyan Zhang, Fuben Xu, Yanqing Tang, Yanfang Wang, Zihan Chen, Tak Yeung Leung, Jacqueline Pui Wah Chung,[...]. Hum Genet 2020
10

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

Sudden Cardiac Death and Copy Number Variants: What Do We Know after 10 Years of Genetic Analysis?
Jesus Mates, Irene Mademont-Soler, Anna Fernandez-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Elena Arbelo, Ana García-Álvarez, Paloma Jordà, Rocío Toro, Mónica Coll,[...]. Forensic Sci Int Genet 2020
7

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

Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution.
Flavia Angela Maria Maggiolini, Ashley D Sanders, Colin James Shew, Arvis Sulovari, Yafei Mao, Marta Puig, Claudia Rita Catacchio, Maria Dellino, Donato Palmisano, Ludovica Mercuri,[...]. Genome Res 2020
1

Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
E Robert Wassman, Karen S Ho, Diana Bertrand, Kyle W Davis, Megan M Martin, Stephanie Page, Andreas Peiffer, Aparna Prasad, Moises A Serrano, Hope Twede,[...]. Neurol Genet 2019
1

Introduction of genomics into prenatal diagnostics.
Michael E Talkowski, Heidi L Rehm. Lancet 2019
8


Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development.
Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park. Ann Rehabil Med 2019
1

Familial segregation of a 5q15-q21.2 deletion associated with facial dysmorphism and speech delay.
Cinthya Zepeda-Mendoza, McKinsey L Goodenberger, Ashley Kuhl, Gregory M Rice, Nicole Hoppman. Clin Case Rep 2019
2