Research InterestsMy research focuses on the identification and characterization of genomic variation in individuals with neurodevelopmental and neuropsychiatric disabilities, including autism. I am interested in determining the genetic cause for these disorders and correlating genotype with phenotype by genetic sub-type. Ultimately, this "genotype-first" approach will lead to targeted treatment modalities based on the underlying genetic etiology. Another area of my research focuses on evidence-based approaches to understanding genomic variation. By using large clinical genomic datasets, we are cataloging genomic variation that occurs in individuals with neurodevelopmental disorders as compared to normal populations to assist in defining pathogenic versus benign regions of the human genome.
- Gonzalez-Mantilla AJ, Moreno-De-Luca A, Ledbetter DH, Martin CL: A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders. JAMA Psychiatry. 2016 Mar;73(3):275-83. PMID: 26817790.
- Rehm, PhD, H. L., Berg, MD, PhD, J. S., Brooks, PhD L. D., Bustamante, PhD C. D., Evans, MD, PhD, J. P., Landrum, PhD, M. J., Ledbetter, PhD, D. H., Maglott, PhD, D. R., Martin, PhD, C. L., Nussbaum, MD, R. L., Plon, MD, PhD, S. E., Ramos, PhD, E. M., Sherry, PhD, S. T., and Watson, PhD, M. S., on behalf of ClinGen: ClinGen: The Clinical Genome Resource. New Eng J Med. 2015 Jun 4; 372(23):2235-42. PMID: 26014595
- Moreno-De-Luca A, Evans DW, Boomer KB, Hanson E, Bernier R, Goin-Kochel RP, Myers SM, Challman TD, Moreno-De-Luca D, Slane MM, Hare AE, Chung WK, Spiro JE, Faucett WA, Martin CL, Ledbetter DH.. (2014, Dec). The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions. JAMA Psychiatry , Epub ahead of print.
- Moreno-De-Luca, D, Sanders SJ, Willsey AJ, Mulle JG, Lowe JK, Geschwind DH, State MW, Martin CL, Ledbetter DH (*denotes equal contribution). (2013, Oct). Using large clinical datasets to infer pathogenicity for rare copy number variants in autism cohorts. Mol Psychiatry , 18(10):1090-5. External Link
- Wapner RJ, Lese Martin C, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. (2012, Dec). Chromosomal microarray versus karyotyping for prenatal diagnosis. New Eng J Med , 367(23), 2175-84.
BS, Penn State University, 1987-1991
PhD, University of Pittsburgh, 1991-1996