My 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. Towards this goal, I am one of the Principal Investigators of the NIH-funded Clinical Genome Resource (ClinGen); the goal of this project is to build an authoritative central knowledge base that defines the clinical relevance of genes and variants for use in precision health. Finally, I am part of the leadership team for the MyCode Community Health Initiative at Geisinger – a groundbreaking precision health initiative that is bringing genomic medicine into everyday healthcare.
- RO1 MH074090 (NIH/NIMH) – Role: MPI - Gene Dosage Imbalance in Neurodevelopmental Disorders
- RO1 MH107431 (NIH/NIMH) – Role: PI - Dimensional Analysis of Developmental Brain Disorders using an Online, Genome-first Approach
- U41HG006834 (NIH/NHGRI) – Role: MPI - A Unified Clinical Genomics Database
- Simons Foundation, NY – Role: Co-I - Simons Variation in Individuals Project (VIP)
- Simons Foundation, NY, - Role: PI - Geisinger ADMI: SPARK Clinical Research Site
- Martin CL, Ledbetter DH. Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders. JAMA. 2017 Jun 27;317(24):2545-2546. doi: 10.1001/jama.2017.7272. PMID:28654998 Full Text
- Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 1;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May rel="noopener noreferrer" 25. PMID:28552198 Full Text
- Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, McKelvey KD, Ormond KE, Richards CS, Vlangos CN, Watson M, Martin CL, Miller DT. 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. Genet Med. 2017 Feb;19(2):249-255. doi: 10.1038/gim.2016.190. rel="noopener noreferrer" Epub 2016 Nov 17. PMID:27854360 Full Text
- 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 , 2015 Feb;72(2):119-26.
BS, Penn State University, 1987-1991
PhD, University of Pittsburgh, 1991-1996