Signals of historical interlocus gene conversion in human segmental duplications.

by Beth L Dumont, Evan E Eichler
Published 2013-01-01

The Dynamic Structure and Rapid Evolution of Human Centromeric Satellite DNA

by Glennis A. Logsdon, Evan E. Eichler
Published 2022-12-01

Estimating the Prevalence of De Novo Monogenic Neurodevelopmental Disorders from Large Cohort Studies

by Madelyn A. Gillentine, Tianyun Wang, Evan E. Eichler
Published 2022-11-01

Applications of long-read sequencing to Mendelian genetics

by Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler
Published 2023-06-01

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
Published 2009-05-01

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
Published 2021-06-01

Population stratification of a common APOBEC gene deletion polymorphism.

by Jeffrey M Kidd, Tera L Newman, Eray Tuzun, Rajinder Kaul, Evan E Eichler
Published 2007-04-01

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
Published 2007-09-01

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

by Amy B. Wilfert, Arvis Sulovari, Tychele N. Turner, Bradley P. Coe, Evan E. Eichler
Published 2017-11-01

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

by Kyleen Luhrs, Tracey Ward, Caitlin M. Hudac, Jennifer Gerdts, Holly A. F. Stessman, Evan E. Eichler, Raphael A. Bernier
Published 2017-01-01

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
Published 2017-10-01

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
Published 2020-09-01

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
Published 2023-10-01

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
Published 2009-03-01

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

by Caitlin M. Hudac, Holly A. F. Stessman, Trent D. DesChamps, Anna Kresse, Susan Faja, Emily Neuhaus, Sara Jane Webb, Evan E. Eichler, Raphael A. Bernier
Published 2017-05-01

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
Published 2024-04-01

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
Published 2019-09-01

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
Published 2005-04-01

Evolutionary Dynamics of the <i>POTE</i> Gene Family in Human and Nonhuman Primates

by Flavia Angela Maria Maggiolini, Ludovica Mercuri, Francesca Antonacci, Fabio Anaclerio, Francesco Maria Calabrese, Nicola Lorusso, Alberto L’Abbate, Melanie Sorensen, Giuliana Giannuzzi, Evan E. Eichler, Claudia Rita Catacchio, Mario Ventura
Published 2020-02-01

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
Published 2009-01-01