David H. Ledbetter Ph.D., FACMG Professor Department: Office of Research Affairs Business Phone: (904) 244-9478 Business Email: David.Ledbetter@jax.ufl.edu Board Certifications Medical Genetics Show More Publications 2024A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism riskNature Communications.15(1):-[DOI] 10.1038/s41467-024-53211-7.[PMID] 39406744.PubMed·Publisher's Site2024Advancing Mental Health Research Through Strategic Integration of Transdiagnostic Dimensions and Genomics.Biological psychiatry.():-[DOI] 10.1016/j.biopsych.2024.10.006.[PMID] 39424167.PubMed·Publisher's Site2024Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases.American journal of human genetics.111(1):70-81[DOI] 10.1016/j.ajhg.2023.11.007.[PMID] 38091987.4 citations·PubMed·Publisher's Site2023Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.JAMA.329(3):235-243[DOI] 10.1001/jama.2022.23897.[PMID] 36648468.3 citations·PubMed·Publisher's Site2023Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.JAMA pediatrics.177(5):472-478[DOI] 10.1001/jamapediatrics.2023.0008.[PMID] 36877506.20 citations·PubMed·Publisher's Site2023Letter to the editor.Autism research : official journal of the International Society for Autism Research.16(4):678-[DOI] 10.1002/aur.2921.[PMID] 37087602.PubMed·Publisher's Site2023Phenotypic shift in copy number variants: Evidence in 16p11.2 duplication syndrome.Genetics in medicine : official journal of the American College of Medical Genetics.25(1):151-154[DOI] 10.1016/j.gim.2022.09.011.[PMID] 36609147.5 citations·PubMed·Publisher's Site2023Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.The American journal of psychiatry.180(1):65-72[DOI] 10.1176/appi.ajp.22010062.[PMID] 36475376.7 citations·PubMed·Publisher's Site2022Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.Genetics in medicine : official journal of the American College of Medical Genetics.24(9):1857-1866[DOI] 10.1016/j.gim.2022.05.006.[PMID] 35639097.10 citations·PubMed·Publisher's Site2022Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology.The American journal of psychiatry.179(3):189-203[DOI] 10.1176/appi.ajp.2021.21040432.[PMID] 35236119.35 citations·PubMed·Publisher's Site2022Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants.Genetics in medicine : official journal of the American College of Medical Genetics.24(3):703-711[DOI] 10.1016/j.gim.2021.11.010.[PMID] 34906480.2 citations·PubMed·Publisher's Site2021Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genetics in medicine : official journal of the American College of Medical Genetics.23(12):2470-[DOI] 10.1038/s41436-021-01304-9.[PMID] 34646007.2 citations·PubMed·Publisher's Site2021Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.Current opinion in genetics & development.68():1-8[DOI] 10.1016/j.gde.2020.12.016.[PMID] 33434711.23 citations·PubMed·Publisher's Site2021Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.American journal of medical genetics. Part C, Seminars in medical genetics.187(1):83-94[DOI] 10.1002/ajmg.c.31887.[PMID] 33576083.21 citations·PubMed·Publisher's Site2021Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.JAMA.325(5):467-475[DOI] 10.1001/jama.2020.26148.[PMID] 33528536.59 citations·PubMed·Publisher's Site2021Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.Journal of personalized medicine.11(5):-[DOI] 10.3390/jpm11050365.[PMID] 34062946.6 citations·PubMed·Publisher's Site2021Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.Genetics in medicine : official journal of the American College of Medical Genetics.23(9):1738-1745[DOI] 10.1038/s41436-021-01197-8.[PMID] 34007001.8 citations·PubMed·Publisher's Site2020Clinical outcomes of a genomic screening program for actionable genetic conditions.Genetics in medicine : official journal of the American College of Medical Genetics.22(11):1874-1882[DOI] 10.1038/s41436-020-0876-4.[PMID] 32601386.79 citations·PubMed·Publisher's Site2020Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disordersGenetics in Medicine.22(10):1731-1732[DOI] 10.1038/s41436-020-0913-3.[PMID] 32728138.11 citations·PubMed·Publisher's Site2020Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.PloS one.15(11):e0242182-[DOI] 10.1371/journal.pone.0242182.[PMID] 33180868.26 citations·PubMed·Publisher's Site2020Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.Autism research : official journal of the International Society for Autism Research.13(8):1300-1310[DOI] 10.1002/aur.2332.[PMID] 32597026.23 citations·PubMed·Publisher's Site2020Exome sequencing and characterization of 49,960 individuals in the UK BiobankNature.586(7831):749-756[DOI] 10.1038/s41586-020-2853-0.[PMID] 33087929.328 citations·PubMed·Publisher's Site2020Feasibility of blood testing combined with PET-CT to screen for cancer and guide interventionScience.369(6499):-[DOI] 10.1126/science.abb9601.[PMID] 32345712.332 citations·PubMed·Publisher's Site2020Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population.JAMA psychiatry.77(12):1276-1285[DOI] 10.1001/jamapsychiatry.2020.2159.[PMID] 32697297.49 citations·PubMed·Publisher's Site2020Insufficient Evidence for "Autism-Specific" Genes.American journal of human genetics.106(5):587-595[DOI] 10.1016/j.ajhg.2020.04.004.[PMID] 32359473.89 citations·PubMed·Publisher's Site2020Long overdue: including adults with brain disorders in precision health initiatives.Current opinion in genetics & development.65():47-52[DOI] 10.1016/j.gde.2020.05.001.[PMID] 32544666.11 citations·PubMed·Publisher's Site2020Response to Buxbaum et al.American journal of human genetics.107(5):1004-[DOI] 10.1016/j.ajhg.2020.09.012.[PMID] 33157005.3 citations·PubMed·Publisher's Site2020The impact of extraneous features on the performance of recurrent neural network models in clinical tasks.Journal of biomedical informatics.102():103351-[DOI] 10.1016/j.jbi.2019.103351.[PMID] 31870949.6 citations·PubMed·Publisher's Site2019A framework for the investigation of rare genetic disorders in neuropsychiatryNature Medicine.25(10):1477-1487[DOI] 10.1038/s41591-019-0581-5.[PMID] 31548702.71 citations·PubMed·Publisher's Site2019Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics.21(11):2413-2421[DOI] 10.1038/s41436-019-0554-6.[PMID] 31182824.354 citations·PubMed·Publisher's Site2019Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersNature Communications.10(1):-[DOI] 10.1038/s41467-019-12869-0.[PMID] 31653860.78 citations·PubMed·Publisher's Site2018A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.American journal of human genetics.103(3):328-337[DOI] 10.1016/j.ajhg.2018.07.009.[PMID] 30100086.109 citations·PubMed·Publisher's Site2018Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.Genetics in medicine : official journal of the American College of Medical Genetics.20(11):1354-1364[DOI] 10.1038/gim.2018.8.[PMID] 29671837.83 citations·PubMed·Publisher's Site2018ClinGen's GenomeConnect registry enables patient‐centered data sharingHuman Mutation.39(11):1668-1676[DOI] 10.1002/humu.23633.[PMID] 30311371.22 citations·PubMed·Publisher's Site2018Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.Journal of the American College of Cardiology.72(6):662-680[DOI] 10.1016/j.jacc.2018.05.044.[PMID] 30071997.347 citations·PubMed·Publisher's Site2018Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.Genetics in medicine : official journal of the American College of Medical Genetics.20(5):554-558[DOI] 10.1038/gim.2017.145.[PMID] 29261187.42 citations·PubMed·Publisher's Site2018Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.JAMA network open.1(5):e182140-[DOI] 10.1001/jamanetworkopen.2018.2140.[PMID] 30646163.138 citations·PubMed·Publisher's Site2018Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetesNature Communications.9(1):-[DOI] 10.1038/s41467-018-04611-z.[PMID] 29899519.88 citations·PubMed·Publisher's Site2018Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.Health affairs (Project Hope).37(5):757-764[DOI] 10.1377/hlthaff.2017.1557.[PMID] 29733722.65 citations·PubMed·Publisher's Site2018Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes.American journal of human genetics.102(5):874-889[DOI] 10.1016/j.ajhg.2018.03.012.[PMID] 29727688.43 citations·PubMed·Publisher's Site2017Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders.JAMA.317(24):2545-2546[DOI] 10.1001/jama.2017.7272.[PMID] 28654998.16 citations·PubMed·Publisher's Site2017Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics.19(11):1245-1252[DOI] 10.1038/gim.2017.40.[PMID] 28471438.35 citations·PubMed·Publisher's Site2017Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease.The New England journal of medicine.377(3):211-221[DOI] 10.1056/NEJMoa1612790.[PMID] 28538136.543 citations·PubMed·Publisher's Site2016A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.JAMA psychiatry.73(3):275-83[DOI] 10.1001/jamapsychiatry.2015.2692.[PMID] 26817790.79 citations·PubMed·Publisher's Site2016Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication.Journal of autism and developmental disorders.46(8):2734-2748[DOI] 10.1007/s10803-016-2807-4.[PMID] 27207092.43 citations·PubMed·Publisher's Site2016Clinical phenotype of the recurrent 1q21.1 copy-number variant.Genetics in medicine : official journal of the American College of Medical Genetics.18(4):341-9[DOI] 10.1038/gim.2015.78.[PMID] 26066539.108 citations·PubMed·Publisher's Site2016Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.JAMA psychiatry.73(1):20-30[DOI] 10.1001/jamapsychiatry.2015.2123.[PMID] 26629640.164 citations·PubMed·Publisher's Site2016Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Science (New York, N.Y.).354(6319):-[DOI] 10.1126/science.aaf6814.[PMID] 28008009.377 citations·PubMed·Publisher's Site2016Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Science (New York, N.Y.).354(6319):-[DOI] 10.1126/science.aaf7000.[PMID] 28008010.295 citations·PubMed·Publisher's Site2016Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease.The New England journal of medicine.374(12):1123-33[DOI] 10.1056/NEJMoa1510926.[PMID] 26933753.343 citations·PubMed·Publisher's Site2016INTEGRATING CLINICAL LABORATORY MEASURES AND ICD-9 CODE DIAGNOSES IN PHENOME-WIDE ASSOCIATION STUDIES.Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing.21():168-79[DOI] .[PMID] 26776183.13 citations·PubMed·Publisher's Site2016Recommendations for the integration of genomics into clinical practiceGenetics in Medicine.18(11):1075-1084[DOI] 10.1038/gim.2016.17.[PMID] 27171546.104 citations·PubMed·Publisher's Site2016Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders.Genetics in medicine : official journal of the American College of Medical Genetics.18(4):302-4[DOI] 10.1038/gim.2015.92.[PMID] 26158229.32 citations·PubMed·Publisher's Site2016The Geisinger MyCode community health initiative: an electronic health record-linked biobank for precision medicine research.Genetics in medicine : official journal of the American College of Medical Genetics.18(9):906-13[DOI] 10.1038/gim.2015.187.[PMID] 26866580.285 citations·PubMed·Publisher's Site2016Toward clinical genomics in everyday medicine: perspectives and recommendations.Expert review of molecular diagnostics.16(5):521-32[DOI] 10.1586/14737159.2016.1146593.[PMID] 26810587.42 citations·PubMed·Publisher's Site2015A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity?Biological psychiatry.77(9):775-84[DOI] 10.1016/j.biopsych.2014.09.017.[PMID] 25534755.96 citations·PubMed·Publisher's Site2015ClinGen--the Clinical Genome Resource.The New England journal of medicine.372(23):2235-42[DOI] 10.1056/NEJMsr1406261.[PMID] 26014595.852 citations·PubMed·Publisher's Site2015Copy number variants, aneuploidies, and human disease.Clinics in perinatology.42(2):227-42, vii[DOI] 10.1016/j.clp.2015.03.001.[PMID] 26042902.42 citations·PubMed·Publisher's Site2015Current controversies in prenatal diagnosis 3: the ethical and counseling implications of new genomic technologies: all pregnant women should be offered prenatal diagnostic genome-wide testing for prenatally identified fetal congenital anomalies.Prenatal diagnosis.35(1):19-22[DOI] 10.1002/pd.4531.[PMID] 25393822.8 citations·PubMed·Publisher's Site2015GenomeConnect: matchmaking between patients, clinical laboratories, and researchers to improve genomic knowledge.Human mutation.36(10):974-8[DOI] 10.1002/humu.22838.[PMID] 26178529.50 citations·PubMed·Publisher's Site2015Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Neuron.87(6):1215-1233[DOI] 10.1016/j.neuron.2015.09.016.[PMID] 26402605.915 citations·PubMed·Publisher's Site2015Molecular cytogenetic analysis of telomere rearrangements.Current protocols in human genetics.84():8.11.1-8.11.15[DOI] 10.1002/0471142905.hg0811s84.[PMID] 25599669.2 citations·PubMed·Publisher's Site2015The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.Biological psychiatry.77(9):785-93[DOI] 10.1016/j.biopsych.2014.04.021.[PMID] 25064419.176 citations·PubMed·Publisher's Site2015The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.JAMA psychiatry.72(2):119-26[DOI] 10.1001/jamapsychiatry.2014.2147.[PMID] 25493922.105 citations·PubMed·Publisher's Site2014AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).European journal of human genetics : EJHG.22(3):363-8[DOI] 10.1038/ejhg.2013.135.[PMID] 23756445.35 citations·PubMed·Publisher's Site2014Characterizing genetic variants for clinical action.American journal of medical genetics. Part C, Seminars in medical genetics.166C(1):93-104[DOI] 10.1002/ajmg.c.31386.[PMID] 24634402.39 citations·PubMed·Publisher's Site2014Genomic Variation: Lessons Learned from Whole-Genome CNV Analysis.Current genetic medicine reports.2(3):146-150[DOI] .[PMID] 25152847.11 citations·PubMed·Publisher's Site2014Implementation of genomic medicine in a health care delivery system: a value proposition?American journal of medical genetics. Part C, Seminars in medical genetics.166C(1):112-6[DOI] 10.1002/ajmg.c.31392.[PMID] 24619641.12 citations·PubMed·Publisher's Site2014Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.Autism research : official journal of the International Society for Autism Research.7(3):355-62[DOI] 10.1002/aur.1378.[PMID] 24821083.50 citations·PubMed·Publisher's Site2014Phenome-wide association studies demonstrating pleiotropy of genetic variants within FTO with and without adjustment for body mass index.Frontiers in genetics.5():250-[DOI] 10.3389/fgene.2014.00250.[PMID] 25177340.57 citations·PubMed·Publisher's Site2014The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.Nucleic acids research.42(Database issue):D966-74[DOI] 10.1093/nar/gkt1026.[PMID] 24217912.499 citations·PubMed·Publisher's Site2014The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Frontiers in genetics.5():16-[DOI] 10.3389/fgene.2014.00016.[PMID] 24575121.37 citations·PubMed·Publisher's Site2013Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait.Biological psychiatry.74(8):576-84[DOI] 10.1016/j.biopsych.2013.04.018.[PMID] 23746936.55 citations·PubMed·Publisher's Site2013Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.The Lancet. Neurology.12(4):406-14[DOI] 10.1016/S1474-4422(13)70011-5.[PMID] 23518333.214 citations·PubMed·Publisher's Site2013Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.Nature genetics.45(9):984-94[DOI] 10.1038/ng.2711.[PMID] 23933821.1584 citations·PubMed·Publisher's Site2013Implementing genomic medicine in the clinic: the future is here.Genetics in medicine : official journal of the American College of Medical Genetics.15(4):258-67[DOI] 10.1038/gim.2012.157.[PMID] 23306799.374 citations·PubMed·Publisher's Site2013Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium Meeting.Human mutation.34(6):915-9[DOI] 10.1002/humu.22306.[PMID] 23463607.22 citations·PubMed·Publisher's Site2013Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.Molecular psychiatry.18(10):1090-5[DOI] 10.1038/mp.2012.138.[PMID] 23044707.118 citations·PubMed·Publisher's Site2012A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.Journal of medical genetics.49(10):660-8[DOI] 10.1136/jmedgenet-2012-101203.[PMID] 23054248.204 citations·PubMed·Publisher's Site2012Chromosomal microarray versus karyotyping for prenatal diagnosis.The New England journal of medicine.367(23):2175-84[DOI] 10.1056/NEJMoa1203382.[PMID] 23215555.865 citations·PubMed·Publisher's Site2012Common genetic variants, acting additively, are a major source of risk for autism.Molecular autism.3(1):9-[DOI] 10.1186/2040-2392-3-9.[PMID] 23067556.277 citations·PubMed·Publisher's Site2012Diagnostic interpretation of array data using public databases and internet sources.Human mutation.33(6):930-40[DOI] 10.1002/humu.22049.[PMID] 26285306.80 citations·PubMed·Publisher's Site2012Genetic [corrected] insights into the causes and classification of [corrected] cerebral palsies.The Lancet. Neurology.11(3):283-92[DOI] 10.1016/S1474-4422(11)70287-3.[PMID] 22261432.90 citations·PubMed·Publisher's Site2012Human preferences for symmetry: subjective experience, cognitive conflict and cortical brain activity.PloS one.7(6):e38966-[DOI] 10.1371/journal.pone.0038966.[PMID] 22720004.10 citations·PubMed·Publisher's Site2012The introduction of arrays in prenatal diagnosis: a special challenge.Human mutation.33(6):923-9[DOI] 10.1002/humu.22050.[PMID] 22508381.54 citations·PubMed·Publisher's Site2012Towards an evidence-based process for the clinical interpretation of copy number variation.Clinical genetics.81(5):403-12[DOI] 10.1111/j.1399-0004.2011.01818.x.[PMID] 22097934.79 citations·PubMed·Publisher's Site2011Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability.Journal of medical genetics.48(2):141-4[DOI] 10.1136/jmg.2010.082263.[PMID] 20972249.129 citations·PubMed·Publisher's Site2011An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.Genetics in medicine : official journal of the American College of Medical Genetics.13(9):777-84[DOI] 10.1097/GIM.0b013e31822c79f9.[PMID] 21844811.327 citations·PubMed·Publisher's Site2011Diverse mutational mechanisms cause pathogenic subtelomeric rearrangements.Human molecular genetics.20(19):3769-78[DOI] 10.1093/hmg/ddr293.[PMID] 21729882.32 citations·PubMed·Publisher's Site2011Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.Neuron.70(5):863-85[DOI] 10.1016/j.neuron.2011.05.002.[PMID] 21658581.909 citations·PubMed·Publisher's Site2010Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.American journal of human genetics.86(5):749-64[DOI] 10.1016/j.ajhg.2010.04.006.[PMID] 20466091.1826 citations·PubMed·Publisher's Site2010Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.American journal of human genetics.87(5):618-30[DOI] 10.1016/j.ajhg.2010.10.004.[PMID] 21055719.238 citations·PubMed·Publisher's Site2009"New microdeletion syndromes: complex, but no new paradigms".Journal of medical genetics.46(8):576-[DOI] 10.1136/jmg.2009.068916.[PMID] 19648125.2 citations·PubMed·Publisher's Site2009Chaos in the embryo.Nature medicine.15(5):490-1[DOI] 10.1038/nm0509-490.[PMID] 19424206.24 citations·PubMed·Publisher's Site2009Segmental duplications mediate novel, clinically relevant chromosome rearrangements.Human molecular genetics.18(16):2957-62[DOI] 10.1093/hmg/ddp233.[PMID] 19443486.54 citations·PubMed·Publisher's Site2008Cytogenetic technology--genotype and phenotype.The New England journal of medicine.359(16):1728-30[DOI] 10.1056/NEJMe0806570.[PMID] 18784093.31 citations·PubMed·Publisher's Site2008Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray.Genetics in medicine : official journal of the American College of Medical Genetics.10(6):415-29[DOI] 10.1097/GIM.0b013e318177015c.[PMID] 18496225.127 citations·PubMed·Publisher's Site2008Gene patenting and licensing: the role of academic researchers and advocacy groups.Genetics in medicine : official journal of the American College of Medical Genetics.10(5):314-9[DOI] 10.1097/GIM.0b013e3181729dab.[PMID] 18496028.7 citations·PubMed·Publisher's Site2008Issues in genetic testing for ultra-rare diseases: background and introduction.Genetics in medicine : official journal of the American College of Medical Genetics.10(5):309-13[DOI] 10.1097/GIM.0b013e3181729d99.[PMID] 18496027.6 citations·PubMed·Publisher's Site2008Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.American journal of human genetics.82(1):150-9[DOI] 10.1016/j.ajhg.2007.09.005.[PMID] 18179893.589 citations·PubMed·Publisher's Site2008Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues.American journal of human genetics.82(2):398-410[DOI] 10.1016/j.ajhg.2007.10.013.[PMID] 18252220.66 citations·PubMed·Publisher's Site2008Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicism.American journal of medical genetics. Part A.146A(2):247-50[DOI] .[PMID] 18076101.7 citations·PubMed·Publisher's Site2008Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory.Genetics in medicine : official journal of the American College of Medical Genetics.10(5):332-6[DOI] 10.1097/GIM.0b013e318172838d.[PMID] 18496031.15 citations·PubMed·Publisher's Site2008Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.Genetics in medicine : official journal of the American College of Medical Genetics.10(7):502-7[DOI] .[PMID] 18580691.13 citations·PubMed·Publisher's Site2007Autism and cytogenetic abnormalities: solving autism one chromosome at a time.Current psychiatry reports.9(2):141-7[DOI] .[PMID] 17389126.18 citations·PubMed·Publisher's Site2007Cryptic telomere imbalance: a 15-year update.American journal of medical genetics. Part C, Seminars in medical genetics.145C(4):327-34[DOI] .[PMID] 17910073.34 citations·PubMed·Publisher's Site2007Mapping autism risk loci using genetic linkage and chromosomal rearrangements.Nature genetics.39(3):319-28[DOI] .[PMID] 17322880.991 citations·PubMed·Publisher's Site2007Strong association of de novo copy number mutations with autism.Science (New York, N.Y.).316(5823):445-9[DOI] .[PMID] 17363630.1941 citations·PubMed·Publisher's Site2007The evolution of molecular ruler analysis for characterizing telomere imbalances: from fluorescence in situ hybridization to array comparative genomic hybridization.Genetics in medicine : official journal of the American College of Medical Genetics.9(9):566-73[DOI] .[PMID] 17873644.8 citations·PubMed·Publisher's Site2006Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities.Journal of medical genetics.43(6):478-89[DOI] .[PMID] 16199540.274 citations·PubMed·Publisher's Site2005Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing.Genetics in medicine : official journal of the American College of Medical Genetics.7(4):264-71[DOI] .[PMID] 15834244.20 citations·PubMed·Publisher's Site2005Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter.American journal of medical genetics. Part A.136(1):38-44[DOI] .[PMID] 15937949.34 citations·PubMed·Publisher's Site2005The dynamic nature and evolutionary history of subtelomeric and pericentromeric regions.Cytogenetic and genome research.108(1-3):22-5[DOI] .[PMID] 15545712.10 citations·PubMed·Publisher's Site2004Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages.American journal of human genetics.74(6):1168-74[DOI] .[PMID] 15127362.156 citations·PubMed·Publisher's Site2004Diverse fates of paralogs following segmental duplication of telomeric genes.Genomics.84(2):239-47[DOI] .[PMID] 15233989.16 citations·PubMed·Publisher's Site2004Mitotic and meiotic instability of a telomere association involving the Y chromosome.American journal of medical genetics. 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genetics.27(2-3):111-22[DOI] .[PMID] 6156798.42 citations·PubMed·Publisher's Site Show More Office Information Academic Office Tower II, 6th floor, Suite 6015580 West 8th StreetJacksonville, FL 32209(904) 244-9478 David.Ledbetter@jax.ufl.edu Administrative Specialist Melissa Macarages(904) 244-9478melissa.macarages@jax.ufl.edu Administrative Specialist Nazle Jonnalagadda, M.Ed.(904) 244-9478nazle.jonnalagadda@jax.ufl.edu Show More Education Ph.D., Psychology (Behavioral Genetics)1981 · University of Texas, Austin, TX, USA Show More