Lea Karatheodoris Davis, Ph.D.

Assistant Professor

lea.k.davis@vanderbilt.edu
Faculty Appointments
Assistant Professor of Medicine Assistant Professor of Biomedical InformaticsAssistant Professor of Psychiatry and Behavioral Sciences
Education
Ph.D., Genetics, University of Iowa, Iowa City, IowaB.S., Psychology, University of Alabama, Tuscaloosa, Alabama
Research Description
In the Davis Lab, we are interested in understanding the genetic basis of a wide range of complex phenotypes. For most complex traits, much of the genetic liability is distributed throughout the genome and therefore each individual single nucleotide polymorphism (SNP) explains a very small proportion of the phenotypic variance (i.e., heritability) observed through traditional twin and family-based methods. While the contribution of each individual variant is small, for many complex traits, the cumulative the effect of these contributory common SNPs is substantial. Additionally, complex traits are also influenced by rare genetic variants, and environmental factors. Our research aims to understand how polygenic risk, rare variant risk, and environment interact to result in complex traits. We use a variety of approaches including genome-wide association studies (GWAS), polygenic analyses, and bioinformatic analyses applied to large data sets including electronic health record (EHR) data. In addition to traditional gene hunting approaches, some of the recent projects in the lab include searching for signatures of evolutionary selection across complex traits, analysis of the sex-specific architecture of neuropsychiatric traits, and using polygenic risk scores to discover novel biomarkers for complex diseases using the EHR. Finally, we are part of several consortia including the Psychiatric Genomics Consortium and the Polycystic Ovarian Syndrome Genomics Consortium. We are working on multiple projects aimed at understanding the genetics of both endocrine and neuropsychiatric disorders.

Visit our lab website: https://complextraitgenomics.org/
Research Keywords
human genetics, human genomics, polygenic inheritance, statistical genomics, complex traits, neuropsychiatric phenotypes
Publications
. Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis. Mol. Psychiatry [print-electronic]. 2017 Aug 8/1/2017; PMID: 28761083, PII: mp2017154, DOI: 10.1038/mp.2017.154, ISSN: 1476-5578.

Huang AY, Yu D, Davis LK, Sul JH, Tsetsos F, Ramensky V, Zelaya I, Ramos EM, Osiecki L, Chen JA, McGrath LM, Illmann C, Sandor P, Barr CL, Grados M, Singer HS, Nöthen MM, Hebebrand J, King RA, Dion Y, Rouleau G, Budman CL, Depienne C, Worbe Y, Hartmann A, Müller-Vahl KR, Stuhrmann M, Aschauer H, Stamenkovic M, Schloegelhofer M, Konstantinidis A, Lyon GJ, McMahon WM, Barta C, Tarnok Z, Nagy P, Batterson JR, Rizzo R, Cath DC, Wolanczyk T, Berlin C, Malaty IA, Okun MS, Woods DW, Rees E, Pato CN, Pato MT, Knowles JA, Posthuma D, Pauls DL, Cox NJ, Neale BM, Freimer NB, Paschou P, Mathews CA, Scharf JM, Coppola G, , . Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome. Neuron. 2017 Jun 6/21/2017; 94(6): 1101-1111.e7. PMID: 28641109, PII: S0896-6273(17)30508-1, DOI: 10.1016/j.neuron.2017.06.010, ISSN: 1097-4199.

Darrow SM, Hirschtritt ME, Davis LK, Illmann C, Osiecki L, Grados M, Sandor P, Dion Y, King R, Pauls D, Budman CL, Cath DC, Greenberg E, Lyon GJ, Yu D, McGrath LM, McMahon WM, Lee PC, Delucchi KL, Scharf JM, Mathews CA, . Identification of Two Heritable Cross-Disorder Endophenotypes for Tourette Syndrome. Am J Psychiatry [print-electronic]. 2017 Apr 4/1/2017; 174(4): 387-96. PMID: 27809572, PMCID: PMC5378637, DOI: 10.1176/appi.ajp.2016.16020240, ISSN: 1535-7228.

Chen R, Davis LK, Guter S, Wei Q, Jacob S, Potter MH, Cox NJ, Cook EH, Sutcliffe JS, Li B. Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism. Mol Autism. 2017; 8: 14. PMID: 28344757, PMCID: PMC5361831, PII: 130, DOI: 10.1186/s13229-017-0130-3, ISSN: 2040-2392.

Gao J, Davis LK, Hart AB, Sanchez-Roige S, Han L, Cacioppo JT, Palmer AA. Genome-Wide Association Study of Loneliness Demonstrates a Role for Common Variation. Neuropsychopharmacology [print-electronic]. 2016 Sep 9/15/2016; PMID: 27629369, PII: npp2016197, DOI: 10.1038/npp.2016.197, ISSN: 1740-634X.

Hillenmeyer S, Davis LK, Gamazon ER, Cook EH, Cox NJ, Altman RB. STAMS: STRING-assisted module search for genome wide association studies and application to autism. Bioinformatics [print-electronic]. 2016 Aug 8/19/2016; PMID: 27542772, PII: btw530, DOI: 10.1093/bioinformatics/btw530, ISSN: 1367-4811.

Trubetskoy V, Rodriguez A, Dave U, Campbell N, Crawford EL, Cook EH, Sutcliffe JS, Foster I, Madduri R, Cox NJ, Davis LK. Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes. Bioinformatics [print-electronic]. 2015 Jan 1/15/2015; 31(2): 187-93. PMID: 25270638, PMCID: PMC4287941, PII: btu591, DOI: 10.1093/bioinformatics/btu591, ISSN: 1367-4811.

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry [print-electronic]. 2015 Jan; 172(1): 82-93. PMID: 25158072, PMCID: PMC4282594, PII: 1900626, DOI: 10.1176/appi.ajp.2014.13101306, ISSN: 1535-7228.

Gamazon ER, Cox NJ, Davis LK. Structural architecture of SNP effects on complex traits. Am. J. Hum. Genet [print-electronic]. 2014 Nov 11/6/2014; 95(5): 477-89. PMID: 25307299, PMCID: PMC4225594, PII: S0002-9297(14)00392-9, DOI: 10.1016/j.ajhg.2014.09.009, ISSN: 1537-6605.

McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry [print-electronic]. 2014 Aug; 53(8): 910-9. PMID: 25062598, PMCID: PMC4218748, PII: S0890-8567(14)00404-3, DOI: 10.1016/j.jaac.2014.04.022, ISSN: 1527-5418.

Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM. Genetic association signal near NTN4 in Tourette syndrome. Ann. Neurol [print-electronic]. 2014 Aug; 76(2): 310-5. PMID: 25042818, PMCID: PMC4140987, DOI: 10.1002/ana.24215, ISSN: 1531-8249.

Akpudo H, Aleksic B, Alkelai A, Burton C, Carrillo-Roa T, Chen DT, Cheng MC, Cocchi E, Davis LK, Giori IG, Hubbard LM, Merikangas A, Moily NS, Okewole A, Olfson E, Pappa I, Reitt M, Singh AB, Steinberg J, Strohmaier J, Ting TT, van Hulzen KJ, O'Shea A, DeLisi LE. Summaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17-21 October 2013: state of the field. Psychiatr. Genet. 2014 Aug; 24(4): 125-50. PMID: 24912047, DOI: 10.1097/YPG.0000000000000043, ISSN: 1473-5873.

McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlaine C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Bruun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosário MC, Eapen V, Evans P, Falkai P, Fernandez TV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Heiman GA, Hemmings SM, Herrera LD, Hounie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TL, Lyon GJ, Macciardi F, Maier W, McCracken JT, McMahon W, Murphy DL, Naarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhrmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Shugart YY, Miguel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutink P, Nestadt G, Freimer N, Petryshen T, Posthuma D, Jenike MA, Cox NJ, Hanna GL, Brentani H, Scherer SW, Arnold PD, Stewart SE, Mathews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM. Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry [print-electronic]. 2014 Aug; 53(8): 910-9. PMID: 25062598, PMCID: PMC4218748, PII: S0890-8567(14)00404-3, DOI: 10.1016/j.jaac.2014.04.022, ISSN: 1527-5418.

Wassink TH, Hazlett HC, Davis LK, Reiss AL, Piven J. Testing for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome. J Neurodev Disord. 2014; 6(1): 6. PMID: 24669826, PMCID: PMC3987046, PII: 1866-1955-6-6, DOI: 10.1186/1866-1955-6-6, ISSN: 1866-1947.

Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet [print-electronic]. 2013 Oct; 9(10): e1003864. PMID: 24204291, PMCID: PMC3812053, PII: PGENETICS-D-13-00870, DOI: 10.1371/journal.pgen.1003864, ISSN: 1553-7404.

Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Davis LK, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH, Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy DL, Wendland JR, Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceição do Rosário M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M, Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A, , Hardy J, , Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N, Pauls DL. Genome-wide association study of obsessive-compulsive disorder. Mol. Psychiatry [print-electronic]. 2013 Jul; 18(7): 788-98. PMID: 22889921, PMCID: PMC4218751, PII: mp201285, DOI: 10.1038/mp.2012.85, ISSN: 1476-5578.

Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, , Hardy J, , Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. Genome-wide association study of Tourette's syndrome. Mol. Psychiatry [print-electronic]. 2013 Jun; 18(6): 721-8. PMID: 22889924, PMCID: PMC3605224, PII: mp201269, DOI: 10.1038/mp.2012.69, ISSN: 1476-5578.

Davis LK, Maltman N, Mosconi MW, Macmillan C, Schmitt L, Moore K, Francis SM, Jacob S, Sweeney JA, Cook EH. Rare inherited A2BP1 deletion in a proband with autism and developmental hemiparesis. Am. J. Med. Genet. A [print-electronic]. 2012 Jul; 158A(7): 1654-61. PMID: 22678932, PMCID: PMC3707293, DOI: 10.1002/ajmg.a.35396, ISSN: 1552-4833.

Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ. Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Mol Autism. 2012; 3(1): 3. PMID: 22591576, PMCID: PMC3484025, PII: 2040-2392-3-3, DOI: 10.1186/2040-2392-3-3, ISSN: 2040-2392.

Fingert JH, Robin AL, Stone JL, Roos BR, Davis LK, Scheetz TE, Bennett SR, Wassink TH, Kwon YH, Alward WL, Mullins RF, Sheffield VC, Stone EM. Copy number variations on chromosome 12q14 in patients with normal tension glaucoma. Hum. Mol. Genet [print-electronic]. 2011 Jun 6/15/2011; 20(12): 2482-94. PMID: 21447600, PMCID: PMC3098731, PII: ddr123, DOI: 10.1093/hmg/ddr123, ISSN: 1460-2083.

Davis LK, Meyer KJ, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Sheffield VC, Stone EM. Copy number variations and primary open-angle glaucoma. Invest. Ophthalmol. Vis. Sci [electronic-print]. 2011; 52(10): 7122-33. PMID: 21310917, PMCID: PMC3207715, PII: iovs.10-5606, DOI: 10.1167/iovs.10-5606, ISSN: 1552-5783.

Meyer KJ, Davis LK, Schindler EI, Beck JS, Rudd DS, Grundstad AJ, Scheetz TE, Braun TA, Fingert JH, Alward WL, Kwon YH, Folk JC, Russell SR, Wassink TH, Stone EM, Sheffield VC. Genome-wide analysis of copy number variants in age-related macular degeneration. Hum. Genet [print-electronic]. 2011 Jan; 129(1): 91-100. PMID: 20981449, PMCID: PMC3613489, DOI: 10.1007/s00439-010-0904-6, ISSN: 1432-1203.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Novel copy number variants in children with autism and additional developmental anomalies. J Neurodev Disord [print-electronic]. 2009 Dec; 1(4): 292-301. PMID: 21547721, PMCID: PMC3164008, DOI: 10.1007/s11689-009-9013-z, ISSN: 1866-1955.

Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature [print-electronic]. 2009 May 5/28/2009; 459(7246): 569-73. PMID: 19404257, PMCID: PMC2925224, PII: nature07953, DOI: 10.1038/nature07953, ISSN: 1476-4687.

Davis LK, Meyer KJ, Rudd DS, Librant AL, Epping EA, Sheffield VC, Wassink TH. Pax6 3' deletion results in aniridia, autism and mental retardation. Hum. Genet [print-electronic]. 2008 May; 123(4): 371-8. PMID: 18322702, PMCID: PMC2719768, DOI: 10.1007/s00439-008-0484-x, ISSN: 1432-1203.