Evan E. Eichler

BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications

E. Eichler, S. Schwartz, D. Pinkel, 2004, Journal of Medical Genetics.

Recent duplication, domain accretion and the dynamic mutation of the human genome.

E. Eichler, Evan E. Eichler, 2001, Trends in genetics : TIG.

Characterization of Missing Human Genome Sequences and Copy-number Polymorphic Insertions

E. Eichler, M. Malig, F. Antonacci, 2010, Nature Methods.

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies.

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

L. Vissers, B. D. de Vries, E. Eichler, 2008, Journal of Medical Genetics.

A SWI/SNF related autism syndrome caused by de novo mutations in ADNP

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Closing gaps in the human genome with fosmid resources generated from multiple individuals

E. Eichler, N. Sampas, Douglas R. Smith, 2008, Nature Genetics.