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1

Genome structural variation discovery and genotyping

Alkan, Can, Coe, Bradley P., Eichler, Evan E.

Journal:

Nature Reviews Genetics

Year:

2011

Language:

english

File:

PDF, 1.08 MB

english, 2011

2

A global reference for human genetic variation

Auton, Adam, Abecasis, Gonçalo R., Altshuler, David M., Durbin, Richard M., Abecasis, Gonçalo R., Bentley, David R., Chakravarti, Aravinda, Clark, Andrew G., Donnelly, Peter, Eichler, Evan E., Flicek,

Journal:

Year:

2015

Language:

english

File:

PDF, 9.50 MB

english, 2015

3

Human Copy Number Variation and Complex Genetic Disease

Girirajan, Santhosh, Campbell, Catarina D., Eichler, Evan E.

Journal:

Annual Review of Genetics

Year:

2011

Language:

english

File:

PDF, 503 KB

english, 2011

4

Gender in Veteran reintegration and transition: a scoping review

Eichler, Maya, Smith-Evans, Kimberley

Journal:

Journal of Military Veteran and Family Health

Year:

2018

Language:

english

File:

PDF, 1.09 MB

english, 2018

5

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

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

Journal:

Journal of Neurodevelopmental Disorders

Year:

2010

Language:

english

File:

PDF, 460 KB

english, 2010

6

Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP

Van Dijck, Anke, Vulto-van Silfhout, Anneke T., Cappuyns, Elisa, van der Werf, Ilse M., Mancini, Grazia M., Tzschach, Andreas, Bernier, Raphael, Gozes, Illana, Eichler, Evan E., Romano, Corrado, Linds

Journal:

Biological Psychiatry

Year:

2018

Language:

english

File:

PDF, 5.36 MB

english, 2018

7

Epigenetics of Autism-related Impairment

Mazina, Varvara, Gerdts, Jennifer, Trinh, Sandy, Ankenman, Katy, Ward, Tracey, Dennis, Megan Y., Girirajan, Santhosh, Eichler, Evan E., Bernier, Raphael

Journal:

Journal of Developmental & Behavioral Pediatrics

Year:

2015

Language:

english

File:

PDF, 403 KB

english, 2015

8

Potocki???Lupski syndrome mimicking a connective tissue disorder

Martin, Judy, Knight, Samantha J.L., Sharp, Andrew J., Eichler, Evan E., Hurst, Jane, Kini, Usha

Journal:

Clinical Dysmorphology

Year:

2008

Language:

english

File:

PDF, 132 KB

english, 2008

9

The autism spectrum phenotype in ADNP syndrome

Arnett, Anne B., Rhoads, Candace L., Hoekzema, Kendra, Turner, Tychele N., Gerdts, Jennifer, Wallace, Arianne S., Bedrosian-Sermone, Sandra, Eichler, Evan E., Bernier, Raphael A.

Journal:

Autism Research

Year:

2018

Language:

english

File:

PDF, 320 KB

english, 2018

10

Human uniqueness: genome interactions with environment, behaviour and culture

Varki, Ajit, Geschwind, Daniel H., Eichler, Evan E.

Journal:

Nature Reviews Genetics

Year:

2008

Language:

english

File:

PDF, 654 KB

english, 2008

11

Fine structure of the human FMR1 gene

Eichler, Evan E., Richards, Stephen, Gibbs, Richard A., Nelson, David L.

Journal:

Human Molecular Genetics

Year:

1993

Language:

english

File:

PDF, 3.75 MB

english, 1993

12

Human-specific tandem repeat expansion and differential gene expression during primate evolution

Sulovari, Arvis, Li, Ruiyang, Audano, Peter A., Porubsky, David, Vollger, Mitchell R., Logsdon, Glennis A., Warren, Wesley C., Pollen, Alex A., Chaisson, Mark J. P., Eichler, Evan E.

Journal:

Proceedings of the National Academy of Sciences

Year:

2019

Language:

english

File:

PDF, 1.90 MB

english, 2019

13

Symmetry of Energy Divergence Anomalies Associated with the El Niño-Southern Oscillation

Kutta, Evan, Hubbart, Jason, Eichler, Timothy, Lupo, Anthony

Journal:

Year:

2018

Language:

english

File:

PDF, 4.94 MB

english, 2018

14

The origins and impact of primate segmental duplications

Tomas Marques-Bonet, Santhosh Girirajan, Evan E. Eichler

Journal:

Trends in Genetics

Year:

2009

Language:

english

File:

PDF, 1.85 MB

english, 2009

15

HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads

Nurk, Sergey, Walenz, Brian P, Rhie, Arang, Vollger, Mitchell R, Logsdon, Glennis A, Grothe, Robert, Miga, Karen H, Eichler, Evan E, Phillippy, Adam M, Koren, Sergey

Journal:

Genome Research

Year:

2020

File:

PDF, 1.61 MB

2020

16

Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder

Tiffany H. Vu, Emil F. Coccaro, Evan E. Eichler, Santhosh Girirajan

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2011

Language:

english

File:

PDF, 324 KB

english, 2011

17

A de novo convergence of autism genetics and molecular neuroscience

Krumm, Niklas, O’Roak, Brian J., Shendure, Jay, Eichler, Evan E.

Journal:

Trends in Neurosciences

Year:

2014

Language:

english

File:

PDF, 1.11 MB

english, 2014

18

Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data

Chin, Chen-Shan, Alexander, David H, Marks, Patrick, Klammer, Aaron A, Drake, James, Heiner, Cheryl, Clum, Alicia, Copeland, Alex, Huddleston, John, Eichler, Evan E, Turner, Stephen W, Korlach, Jonas

Journal:

Year:

2013

Language:

english

File:

PDF, 623 KB

english, 2013

19

Haplotype-resolved genome sequencing of a Gujarati Indian individual

Kitzman, Jacob O, MacKenzie, Alexandra P, Adey, Andrew, Hiatt, Joseph B, Patwardhan, Rupali P, Sudmant, Peter H, Ng, Sarah B, Alkan, Can, Qiu, Ruolan, Eichler, Evan E, Shendure, Jay

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 128 KB

english, 2011

20

Prospective investigation of FOXP1 syndrome

Siper, Paige M., De Rubeis, Silvia, Trelles, Maria del Pilar, Durkin, Allison, Di Marino, Daniele, Muratet, François, Frank, Yitzchak, Lozano, Reymundo, Eichler, Evan E., Kelly, Morgan, Beighley, Jenn

Journal:

Molecular Autism

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

21

Clinical phenotype of ASD-associated DYRK1A haploinsufficiency

Earl, Rachel K., Turner, Tychele N., Mefford, Heather C., Hudac, Caitlin M., Gerdts, Jennifer, Eichler, Evan E., Bernier, Raphael A.

Journal:

Molecular Autism

Year:

2017

Language:

english

File:

PDF, 2.29 MB

english, 2017

22

2012 Introduction to the Curt Stern Award: Jay Shendure1

Eichler, Evan E.

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 226 KB

english, 2013

23

A Hot Spot of Genetic Instability in Autism

Eichler, Evan E., Zimmerman, Andrew W.

Journal:

Boston Medical and Surgical Journal

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

24

Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region

Chiatante, Giorgia, Giannuzzi, Giuliana, Calabrese, Francesco Maria, Eichler, Evan E., Ventura, Mario

Journal:

Molecular Biology and Evolution

Year:

2017

Language:

english

File:

PDF, 7.75 MB

english, 2017

25

Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders

Turner, Tychele N., Wilfert, Amy B., Bakken, Trygve E., Bernier, Raphael A., Pepper, Micah R., Zhang, Zhancheng, Torene, Rebecca I., Retterer, Kyle, Eichler, Evan E.

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 2.13 MB

2019

26

Tissue-specific variation in DNA methylation levels along human chromosome 1

Cecilia De Bustos, Edward Ramos, Janet M Young, Robert K Tran, Uwe Menzel, Cordelia F Langford, Evan E Eichler, Li Hsu, Steve Henikoff, Jan P Dumanski, Barbara J Trask

Journal:

Epigenetics & Chromatin

Year:

2009

Language:

english

File:

PDF, 1.89 MB

english, 2009

27

Mouse segmental duplication and copy number variation

She, Xinwei, Cheng, Ze, Zöllner, Sebastian, Church, Deanna M, Eichler, Evan E

Journal:

Nature Genetics

Year:

2008

Language:

english

File:

PDF, 1.27 MB

english, 2008

28

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

Krishna R. Veeramah, Janelle E. O'Brien, Miriam H. Meisler, Xiaoyang Cheng, Sulayman D. Dib-Hajj, Stephen G. Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E. Eichler, Linda L. Restifo, Robert P. Eri

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 458 KB

english, 2012

29

Genetic Consequences of Programmed Genome Rearrangement

Jeramiah J. Smith, Carl Baker, Evan E. Eichler, Chris T. Amemiya

Journal:

Current Biology

Year:

2012

Language:

english

File:

PDF, 2.47 MB

english, 2012

30

Evolutionary-new centromeres preferentially emerge within gene deserts

Mariana Lomiento, Zhaoshi Jiang, Pietro D'Addabbo, Evan E Eichler…

Journal:

Year:

2008

Language:

english

File:

PDF, 594 KB

english, 2008

31

Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data

He, Zongxiao, O’Roak, Brian J., Smith, Joshua D., Wang, Gao, Hooker, Stanley, Santos-Cortez, Regie Lyn P., Li, Biao, Kan, Mengyuan, Krumm, Nik, Nickerson, Deborah A., Shendure, Jay, Eichler, Evan E.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 649 KB

english, 2014

32

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

Stessman, Holly A., Bernier, Raphael, Eichler, Evan E.

Journal:

Year:

2014

Language:

english

File:

PDF, 576 KB

english, 2014

33

Estimates of penetrance for recurrent pathogenic copy-number variations

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

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 338 KB

english, 2013

34

Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry

Fox, Keolu, Johnsen, Jill M., Coe, Bradley P., Frazar, Chris D., Reiner, Alexander P., Eichler, Evan E., Nickerson, Deborah A.

Journal:

Transfusion (Elsevier)

Year:

2016

Language:

english

File:

PDF, 237 KB

english, 2016

35

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

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

Journal:

Year:

2011

Language:

english

File:

PDF, 358 KB

english, 2011

36

mrsFAST: a cache-oblivious algorithm for short-read mapping

Sahinalp, S Cenk, Hach, Faraz, Hormozdiari, Fereydoun, Alkan, Can, Hormozdiari, Farhad, Birol, Inanc, Eichler, Evan E

Journal:

Year:

2010

Language:

english

File:

PDF, 97 KB

english, 2010

37

Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms

Catarina D. Campbell, Nick Sampas, Anya Tsalenko, Peter H. Sudmant, Jeffrey M. Kidd, Maika Malig, Tiffany H. Vu, Laura Vives, Peter Tsang, Laurakay Bruhn, Evan E. Eichler

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

38

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions

Eichler, Evan E., Hammond, Holly A., Macpherson, James N., Ward, Patricia A., Nelson, David L.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 2.48 MB

english, 1995

39

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Adang, Laura A., Sherbini, Omar, Ball, Laura, Bloom, Miriam, Darbari, Anil, Amartino, Hernan, DiVito, Donna, Eichler, Florian, Escolar, Maria, Evans, Sarah H., Fatemi, Ali, Fraser, Jamie, Hollowell, L

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 527 KB

english, 2017

40

Longitudinal report of child with de novo 16p11.2 triplication

Wallace, Arianne S., Hudac, Caitlin M., Steinman, Kyle J., Peterson, Jessica L., DesChamps, Trent D., Duyzend, Michael H., Nuttle, Xander, Eichler, Evan E., Bernier, Raphael A.

Journal:

Clinical Case Reports

Year:

2018

Language:

english

File:

PDF, 1.46 MB

english, 2018

41

Comparative Annotation Toolkit (CAT)—simultaneous clade and personal genome annotation

Fiddes, Ian T., Armstrong, Joel, Diekhans, Mark, Nachtweide, Stefanie, Kronenberg, Zev N., Underwood, Jason G., Gordon, David, Earl, Dent, Keane, Thomas, Eichler, Evan E., Haussler, David, Stanke, Mar

Journal:

Genome Research

Year:

2018

Language:

english

File:

PDF, 1.96 MB

english, 2018

42

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

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

Journal:

Year:

2018

Language:

english

File:

PDF, 993 KB

english, 2018

43

Lineage-specific evolution of the vertebrateOtopetringene family revealed by comparative genomic analyses

Belen Hurle, Tomas Marques-Bonet, Francesca Antonacci, Inna Hughes, Joseph F Ryan, NISC Comparative Sequencing Program, Evan E Eichler, David M Ornitz, Eric D Green

Journal:

BMC Evolutionary Biology

Year:

2011

Language:

english

File:

PDF, 1.18 MB

english, 2011

44

A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational Mechanisms

Jeffrey M. Kidd, Tina Graves, Tera L. Newman, Robert Fulton, Hillary S. Hayden, Maika Malig, Joelle Kallicki, Rajinder Kaul, Richard K. Wilson, Evan E. Eichler

Journal:

Year:

2010

Language:

english

File:

PDF, 1.20 MB

english, 2010

45

Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome

Devin P. Locke, Andrew J. Sharp, Steven A. McCarroll, Sean D. McGrath, Tera L. Newman, Ze Cheng, Stuart Schwartz, Donna G. Albertson, Daniel Pinkel, David M. Altshuler, Evan E. Eichler

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 556 KB

english, 2006

46

A Comprehensive Analysis of Common Copy-Number Variations in the Human Genome

Kendy K. Wong, Ronald J. deLeeuw, Nirpjit S. Dosanjh, Lindsey R. Kimm, Ze Cheng, Douglas E. Horsman, Calum MacAulay, Raymond T. Ng, Carolyn J. Brown, Evan E. Eichler, Wan L. Lam

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 2.48 MB

english, 2007

47

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

Timms, Andrew E., Dorschner, Michael O., Wechsler, Jeremy, Choi, Kyu Yeong, Kirkwood, Robert, Girirajan, Santhosh, Baker, Carl, Eichler, Evan E., Korvatska, Olena, Roche, Katherine W., Horwitz, Marsha

Journal:

JAMA Psychiatry

Year:

2013

Language:

english

File:

PDF, 413 KB

english, 2013

48

Human genome structural variation and disease

Eichler, Evan E.

Journal:

Year:

2012

Language:

english

File:

PDF, 36 KB

english, 2012

49

Complex β-Satellite Repeat Structures and the Expansion of the Zinc Finger Gene Cluster in 19p12

Eichler, Evan E., Hoffman, Susan M., Adamson, Aaron A., Gordon, Laurie A., McCready, Paula, Lamerdin, Jane E., Mohrenweiser, Harvey W.

Journal:

Genome Research

Year:

1998

Language:

english

File:

PDF, 2.23 MB

english, 1998

50

The autism spectrum phenotype in ADNP syndrome

Arnett, Anne B., Rhoads, Candace L., Hoekzema, Kendra, Turner, Tychele N., Gerdts, Jennifer, Wallace, Arianne S., Bedrosian-Sermone, Sandra, Eichler, Evan E., Bernier, Raphael A.

Journal:

Autism Research

Year:

2018

File:

PDF, 320 KB

2018

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