Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats

por Course, Meredith M., Sulovari, Arvis, Gudsnuk, Kathryn, Eichler, Evan E., Valdmanis, Paul N.
Publicado 2021

Estimates of penetrance for recurrent pathogenic copy-number variations

por Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Publicado 2013

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications

por Wilfert, Amy B., Sulovari, Arvis, Turner, Tychele N., Coe, Bradley P., Eichler, Evan E.
Publicado 2017

GAVISUNK: genome assembly validation via inter-SUNK distances in Oxford Nanopore reads

por Dishuck, Philip C, Rozanski, Allison N, Logsdon, Glennis A, Porubsky, David, Eichler, Evan E
Publicado 2022

Genomic studies in fragile X premutation carriers

por Lozano, Reymundo, Hagerman, Randi J, Duyzend, Michael, Budimirovic, Dejan B, Eichler, Evan E, Tassone, Flora
Publicado 2014

Manipulating multiple sequence alignments via MaM and WebMaM

por Alkan, Can, Tüzün, Eray, Buard, Jerome, Lethiec, Franck, Eichler, Evan E., Bailey, Jeffrey A., Sahinalp, S. Cenk
Publicado 2005

Rare Copy Number Variants in Isolated Sporadic and Syndromic Atrioventricular Septal Defects

por Priest, James R, Girirajan, Santhosh, Vu, Tiffany H, Olson, Aaron, Eichler, Evan E, Portman, Michael A
Publicado 2012

MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals

por Carlson, Keisha D., Sudmant, Peter H., Press, Maximilian O., Eichler, Evan E., Shendure, Jay, Queitsch, Christine
Publicado 2015

Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication

por Cardone, Maria Francesca, Jiang, Zhaoshi, D'Addabbo, Pietro, Archidiacono, Nicoletta, Rocchi, Mariano, Eichler, Evan E, Ventura, Mario
Publicado 2008

Characterization of six human disease-associated inversion polymorphisms

por Antonacci, Francesca, Kidd, Jeffrey M., Marques-Bonet, Tomas, Ventura, Mario, Siswara, Priscillia, Jiang, Zhaoshi, Eichler, Evan E.
Publicado 2009

Next-generation VariationHunter: combinatorial algorithms for transposon insertion discovery

por Hormozdiari, Fereydoun, Hajirasouliha, Iman, Dao, Phuong, Hach, Faraz, Yorukoglu, Deniz, Alkan, Can, Eichler, Evan E., Sahinalp, S. Cenk
Publicado 2010

Evolutionary dynamism of the primate LRRC37 gene family

por Giannuzzi, Giuliana, Siswara, Priscillia, Malig, Maika, Marques-Bonet, Tomas, Mullikin, James C., Ventura, Mario, Eichler, Evan E.
Publicado 2013

Hominoid fission of chromosome 14/15 and the role of segmental duplications

por Giannuzzi, Giuliana, Pazienza, Michele, Huddleston, John, Antonacci, Francesca, Malig, Maika, Vives, Laura, Eichler, Evan E., Ventura, Mario
Publicado 2013

Strand-seq enables reliable separation of long reads by chromosome via expectation maximization

por Ghareghani, Maryam, Porubskỳ, David, Sanders, Ashley D, Meiers, Sascha, Eichler, Evan E, Korbel, Jan O, Marschall, Tobias
Publicado 2018

Deborah A. Nickerson (1954 –2021)

por Chakravarti, Aravinda, Eichler, Evan E., Gibbs, Richard A., Green, Eric D., Myers, Richard M., Sussman, Hillary E.
Publicado 2022

Refinement of a chimpanzee pericentric inversion breakpoint to a segmental duplication cluster

por Locke, Devin P, Archidiacono, Nicoletta, Misceo, Doriana, Cardone, Maria Francesca, Deschamps, Stephane, Roe, Bruce, Rocchi, Mariano, Eichler, Evan E
Publicado 2003

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

por Rosenfeld, Jill A., Coppinger, Justine, Bejjani, Bassem A., Girirajan, Santhosh, Eichler, Evan E., Shaffer, Lisa G., Ballif, Blake C.
Publicado 2009

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome

por Muhle, Hiltrud, Mefford, Heather C, Obermeier, Tanja, von Spiczak, Sarah, Eichler, Evan E, Stephani, Ulrich, Sander, Thomas, Helbig, Ingo
Publicado 2011

Rapid and accurate large-scale genotyping of duplicated genes and discovery of novel sites of interlocus gene conversion

por Nuttle, Xander, Huddleston, John, O'Roak, Brian J., Antonacci, Francesca, Fichera, Marco, Romano, Corrado, Shendure, Jay, Eichler, Evan E.
Publicado 2013

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

por Luhrs, Kyleen, Ward, Tracey, Hudac, Caitlin M., Gerdts, Jennifer, Stessman, Holly A. F., Eichler, Evan E., Bernier, Raphael A.
Publicado 2017