PhD, University of Pittsburgh, 1991-1996
Genomics, Autism, Neurosciences, Rare Diseases, Behavioral Health
Human Genetics, Neurodevelopmental disorders, Developmental Medicine, Clinical Research, Genomic Variation
My research focuses on the identification and characterization of genomic variation in individuals with neurodevelopmental 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.
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..
The Role of Parental Cognitive, Behavioral, and Motor Profiles in Clinical Variability in Individuals With Chromosome 16p11.2 Deletions.
, Epub ahead of print.
Riggs ER, Ledbetter DH, Martin CL. (2014, Sept). Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis. Current Genetic Medicine Reports , 2(3), 146-150.
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. (2013, Jun). ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine , 15(7), 565-574.
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.
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.