Selected Publications

ADMI’s scientists and researchers are leaders in the fields of neurodevelopmental pediatrics, genomic medicine, psychology, speech-language pathology, radiology, special education, and behavioral health. Learn about our innovative research initiatives and latest findings through a list of selected faculty publications. 


Nov 2016
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics
Genetics in Medicine (2016) doi:10.1038/gim.2016.190

Sarah S. Kalia ScM, Kathy Adelman, Sherri J. Bale PhD, Wendy K. Chung MD, PhD, Christine Eng MD, James P. Evans MD, PhD, Gail E. Herman MD, PhD, Sophia B. Hufnagel MD, Teri E. Klein PhD, Bruce R. Korf MD, PhD, Kent D. McKelvey MD, Kelly E. Ormond MS, C. Sue Richards PhD, Christopher N. Vlangos PhD, Michael Watson PhD, Christa L. Martin PhD & David T. Miller MD, PhD; on behalf of the ACMG Secondary Findings Maintenance Working Group

Nov 2016
Sep 2016
Jun 2016
Genetic Counseling for Autism Spectrum Disorder in an Evolving Theoretical Landscape
Genetic Counseling and Clinical Testing (B LeRoy and N Callanan, Section Editors) First Online: 24 June 2016 DOI: 10.1007/s40142-016-0099-9
Jun 2015
ClinGen — The Clinical Genome Resource
N Engl J Med 2015; 372:2235-2242June 4, 2015DOI: 10.1056/NEJMsr1406261

Heidi L. Rehm, Ph.D., Jonathan S. Berg, M.D., Ph.D., Lisa D. Brooks, Ph.D., Carlos D. Bustamante, Ph.D., James P. Evans, M.D., Ph.D., Melissa J. Landrum, Ph.D., David H. Ledbetter, Ph.D., Donna R. Maglott, Ph.D., Christa Lese Martin, Ph.D., Robert L. Nussbaum, M.D., Sharon E. Plon, M.D., Ph.D., Erin M. Ramos, Ph.D., Stephen T. Sherry, Ph.D., and Michael S. Watson, Ph.D. for ClinGen

Dec 2014
The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions
JAMA Psychiatry. 2014 Dec 10. doi: 10.1001/jamapsychiatry.2014.2147

Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SMChallman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WAMartin CLLedbetter DH

Jul 2014
Cross-disorder comparison of four neuropsychiatric CNV loci
Current Genetic Medicine Reports 2014 10.1007/s40142-014-0045-7

Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Joseph F. Cubells, Stephan J. Sanders

Jul 2014
Genomic variation: lessons learned from whole-genome CNV analysis
Current Genetic Medicine Reports September 2014, Volume 2, Issue 3, pp 146-150
Mar 2014
Can metrics of reporting bias enhance early autism screening measures?
J Autism Dev Disord. 2014 Mar 30. [Epub ahead of print]

Cora M. Taylor, Alison Vehorn, Hylan Noble, Amy S. Weitlauf, Zachary E. Warren

Feb 2014
A survey of seizures and current treatments in 15q duplication syndrome
Epilepsia. 2014 Mar;55(3):396-402. doi: 10.1111/epi.12530. Epub 2014 Feb 6.

Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, Lasalle J, Reiter LT, Thibert RL.

Jan 2014
Social cognition and neural substrates of face perception: Implications for neurodevelopmental and neuropsychiatric disorders
Behav Brain Res. 2014 Apr 15;263:1-8. doi: 10.1016/j.bbr.2014.01.010. Epub 2014 Jan 22.

Lazar SM, Evans DW, Myers SM, Moreno-De-Luca A, Moore GJ.

Dec 2013
Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes
Transl Psychiatry. 2013 Dec 3;3:e329. doi: 10.1038/tp.2013.108.

Mullin AP, Gokhale A, Moreno-De-Luca A, Sanyal S, Waddington JL, Faundez V.

Nov 2013
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders
Br J Radiol. 2014 Jan;87(1033):20130467. doi: 10.1259/bjr.20130467. Epub 2013 Nov 14.

Xing M, Parker EI, Moreno-De-Luca A, Harmouche E, Terk MR.

Aug 2013
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nat Genet. 2013 Sep;45(9):984-94. doi: 10.1038/ng.2711. Epub 2013 Aug 11.

Ledbetter DH and Martin CL (included in authorship of Cross-Disorder Group of the Psychiatric Genomics Consortium).

Aug 2013
Knowledge and perceptions about fragile X syndrome: implications for diagnosis, intervention, and research
Intellect Dev Disabil. 2013 Aug;51(4):226-36. doi: 10.1352/1934-9556-51.4.226.
Jun 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Genet Med. 2013 Jul;15(7):565-74. doi: 10.1038/gim.2013.73. Epub 2013 Jun 20.

Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG.

Jun 2013
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait
Biol Psychiatry. 2013 Oct 15;74(8):576-84. doi: 10.1016/j.biopsych.2013.04.018. Epub 2013 Jun 6.

Chaste P, Klei L, Sanders SJ, Murtha MT, Hus V, Lowe JK, Willsey AJ, Moreno-De-Luca D, Yu TW, Fombonne E, Geschwind D, Grice DE, Ledbetter DH, Lord C, Mane SM, Lese Martin C, Martin DM, Morrow EM, Walsh CA, Sutcliffe JS, State MW, Devlin B, Cook EH Jr, Kim SJ.

May 2013
Rare copy number variation in cerebral palsy
Eur J Hum Genet. 2014 Jan;22(1):40-5. doi: 10.1038/ejhg.2013.93. Epub 2013 May 22.

McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A.

Apr 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting
Hum Mutat. 2013 Jun;34(6):915-9. doi: 10.1002/humu.22306. Epub 2013 Apr 2.

Riggs ER, Wain KE, Riethmaier D, Savage M, Smith-Packard B, Kaminsky EB, Rehm HL, Martin CL, Ledbetter DH, Faucett WA.

Mar 2013
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Lancet Neurol. 2013 Apr;12(4):406-14. doi: 10.1016/S1474-4422(13)70011-5. Epub 2013 Mar 18.

Moreno-De-Luca A, Myers SM, Challman TD, Moreno-De-Luca D, Evans DW, Ledbetter DH.

Jan 2013
Chromosomal microarray impacts clinical management
Clin Genet. 2014 Feb;85(2):147-53. doi: 10.1111/cge.12107. Epub 2013 Feb 21.

Riggs E, Wain K, Riethmaier D, Smith-Packard B, Faucett W, Hoppman N, Thorland E, Patel V, Miller D.

Jan 2013
Implementing genomic medicine in the clinic: the future is here
Genet Med. 2013 Apr;15(4):258-67. doi: 10.1038/gim.2012.157. Epub 2013 Jan 10.

Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O'Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS.

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