Ledbetter, David H.

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics

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Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

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Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

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Chromosomal microarray versus karyotyping for prenatal diagnosis

Wapner, R. J., Martin, C. L., Levy, B., Ballif, B. C., Eng, C. M., Zachary, J. M., Savage, M., Platt, L. D., Saltzman, D., Grobman, W. A., et al. (2012) · New England Journal of Medicine

Prenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

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Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease

Dewey, F. E., Gusarova, V., Dunbar, R. L., O’Dushlaine, C., Schurmann, C., Gottesman, O., McCarthy, S., Van Hout, C. V., Bruse, S., Dansky, H. M., et al. (2017) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

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Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., Firth, H. V., Frazier, T., Hansen, R. L., Prock, L., et al. (2019) · Genetics in Medicine

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease

Dewey, F. E., Gusarova, V., O’Dushlaine, C., Gottesman, O., Trejos, J., Hunt, C., Van Hout, C. V., Habegger, L., Buckler, D., Lai, K.-M. V., et al. (2016) · New England Journal of Medicine

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

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An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., et al. (2011) · Genetics in Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

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Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Abul-Husn, N. S., Manickam, K., Jones, L. K., Wright, E. A., Hartzel, D. N., Gonzaga-Jauregui, C., O’Dushlaine, C., Leader, J. B., Lester Kirchner, H., Lindbuchler, D. M., et al. (2016) · Science

Lipoproteins and Cardiovascular HealthGenomics and Rare Diseases

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Common genetic variants, acting additively, are a major source of risk for autism

Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence

Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics

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Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., et al. (2015) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

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Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities

D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

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Insufficient Evidence for “Autism-Specific” Genes

Myers, S. M., Challman, T. D., Bernier, R., Bourgeron, T., Chung, W. K., Constantino, J. N., Eichler, E. E., Jacquemont, S., Miller, D. T., Mitchell, K. J., et al. (2020) · The American Journal of Human Genetics

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Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry

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A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?

Chaste, P., Klei, L., Sanders, S. J., Hus, V., Murtha, M. T., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., et al. (2015) · Biological Psychiatry

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

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Clinical outcomes of a genomic screening program for actionable genetic conditions

Buchanan, A. H., Lester Kirchner, H., Schwartz, M. L. B., Kelly, M. A., Schmidlen, T., Jones, L. K., Hallquist, M. L. G., Rocha, H., Betts, M., Schwiter, R., et al. (2020) · Genetics in Medicine

BRCA gene mutations in cancerGenomics and Rare Diseases

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A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

Gonzalez-Mantilla, A. J., Moreno-De-Luca, A., Ledbetter, D. H., & Martin, C. L. (2016) · JAMA Psychiatry

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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