Signals of historical interlocus gene conversion in human segmental duplications. by Beth L Dumont, Evan E Eichler

Get full text

The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA by Glennis A. Logsdon, Evan E. Eichler

Get full text

Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies by Madelyn A. Gillentine, Tianyun Wang, Evan E. Eichler

Get full text

Applications of long-read sequencing to Mendelian genetics by Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler

Get full text

Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders by Anne B. Arnett, Tianyun Wang, Evan E. Eichler, Raphael A. Bernier

Get full text

Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. by Yongzhong Zhao, Michael Marotta, Evan E Eichler, Charis Eng, Hisashi Tanaka

Get full text

Population stratification of a common APOBEC gene deletion polymorphism. by Jeffrey M Kidd, Tera L Newman, Eray Tuzun, Rajinder Kaul, Evan E Eichler

Get full text

Organization and evolution of primate centromeric DNA from whole-genome shotgun sequence data. by Can Alkan, Mario Ventura, Nicoletta Archidiacono, Mariano Rocchi, S Cenk Sahinalp, Evan E Eichler

Get full text

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency by Rachel K. Earl, Tychele N. Turner, Heather C. Mefford, Caitlin M. Hudac, Jennifer Gerdts, Evan E. Eichler, Raphael A. Bernier

Get full text

A Novel Framework for Characterizing Genomic Haplotype Diversity in the Human Immunoglobulin Heavy Chain Locus by Oscar L. Rodriguez, William S. Gibson, Tom Parks, Matthew Emery, James Powell, Maya Strahl, Gintaras Deikus, Kathryn Auckland, Evan E. Eichler, Evan E. Eichler, Wayne A. Marasco, Robert Sebra, Robert Sebra, Andrew J. Sharp, Melissa L. Smith, Melissa L. Smith, Melissa L. Smith, Ali Bashir, Corey T. Watson

Get full text

Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus by Annalisa Paparella, Alberto L’Abbate, Donato Palmisano, Gerardina Chirico, David Porubsky, Claudia R. Catacchio, Mario Ventura, Evan E. Eichler, Flavia A. M. Maggiolini, Francesca Antonacci

Get full text

Death and resurrection of the human IRGM gene. by Cemalettin Bekpen, Tomas Marques-Bonet, Can Alkan, Francesca Antonacci, Maria Bruna Leogrande, Mario Ventura, Jeffrey M Kidd, Priscillia Siswara, Jonathan C Howard, Evan E Eichler

Get full text

Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions by Emily Neuhaus, Hannah Rea, Elizabeth Jones, Hannah Benavidez, Conor Miles, Alana Whiting, Margaret Johansson, Curtis Eayrs, Evangeline C. Kurtz-Nelson, Rachel Earl, Raphael A. Bernier, Evan E. Eichler

Get full text

Long-read assembly of the Chinese rhesus macaque genome and identification of ape-specific structural variants by Yaoxi He, Xin Luo, Bin Zhou, Ting Hu, Xiaoyu Meng, Peter A. Audano, Zev N. Kronenberg, Evan E. Eichler, Jie Jin, Yongbo Guo, Yanan Yang, Xuebin Qi, Bing Su

Get full text

Lineage-specific expansions of retroviral insertions within the genomes of African great apes but not humans and orangutans. by Chris T Yohn, Zhaoshi Jiang, Sean D McGrath, Karen E Hayden, Philipp Khaitovich, Matthew E Johnson, Marla Y Eichler, John D McPherson, Shaying Zhao, Svante Pääbo, Evan E Eichler

Get full text

Relative burden of large CNVs on a range of neurodevelopmental phenotypes. by Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo, Stephen T Warren, Carlos S Moreno, Marco Fichera, Corrado Romano, Wendy H Raskind, Evan E Eichler

Get full text

Copy number variation of CCL3-like genes affects rate of progression to simian-AIDS in Rhesus Macaques (Macaca mulatta). by Jeremiah D Degenhardt, Paola de Candia, Adrien Chabot, Stuart Schwartz, Les Henderson, Binhua Ling, Meredith Hunter, Zhaoshi Jiang, Robert E Palermo, Michael Katze, Evan E Eichler, Mario Ventura, Jeffrey Rogers, Preston Marx, Yoav Gilad, Carlos D Bustamante

Get full text

Evidence for opposing selective forces operating on human-specific duplicated TCAF genes in Neanderthals and humans by PingHsun Hsieh, Vy Dang, Mitchell R. Vollger, Yafei Mao, Tzu-Hsueh Huang, Philip C. Dishuck, Carl Baker, Stuart Cantsilieris, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, AnneMarie E. Welch, Jason G. Underwood, Evan E. Eichler

Get full text

Inversion polymorphism in a complete human genome assembly by David Porubsky, William T. Harvey, Allison N. Rozanski, Jana Ebler, Wolfram Höps, Hufsah Ashraf, Patrick Hasenfeld, Human Pangenome Reference Consortium (HPRC), Human Genome Structural Variation Consortium (HGSVC), Benedict Paten, Ashley D. Sanders, Tobias Marschall, Jan O. Korbel, Evan E. Eichler

Get full text

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. by Flavia A M Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Beth L Dumont, Ashley D Sanders, Andy Wing Chun Pang, Mitchell R Vollger, Orazio Palumbo, Pietro Palumbo, Maria Accadia, Massimo Carella, Evan E Eichler, Francesca Antonacci

Get full text