Biesecker, Leslie G.

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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Guidelines for investigating causality of sequence variants in human disease

MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Tavtigian, S. V., Greenblatt, M. S., Harrison, S. M., Nussbaum, R. L., Prabhu, S. A., Boucher, K. M., & Biesecker, L. G. (2018) · Genetics in Medicine

Genomics and Rare DiseasesBRCA gene mutations in cancer

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Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Lyons, J. J., Yu, X., Hughes, J. D., Le, Q. T., Jamil, A., Bai, Y., Ho, N., Zhao, M., Liu, Y., O'Connell, M. P., et al. (2016) · Nature Genetics

Mast cells and histamineGastrointestinal motility and disorders

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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Boycott, K. M., Hartley, T., Biesecker, L. G., Gibbs, R. A., Innes, A. M., Riess, O., Belmont, J., Dunwoodie, S. L., Jojic, N., Lassmann, T., et al. (2019) · Cell

Genomics and Rare DiseasesConnective tissue disorders research

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

Burkitt Wright, E. M. M., Spencer, H. L., Daly, S. B., Manson, F. D. C., Zeef, L. A. H., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., et al. (2011) · The American Journal of Human Genetics

Corneal surgery and disordersConnective tissue disorders research

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The Greig cephalopolysyndactyly syndrome

Biesecker, L. G. (2008) · Orphanet Journal of Rare Diseases

Congenital limb and hand anomaliesGenomics and Rare Diseases

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Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

Johnston, J. J., Lewis, K. L., Ng, D., Singh, L. N., Wynter, J., Brewer, C., Brooks, B. P., Brownell, I., Candotti, F., Gonsalves, S. G., et al. (2015) · The American Journal of Human Genetics

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A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number

Lyons, J. J., Stotz, S. C., Chovanec, J., Liu, Y., Lewis, K. L., Nelson, C., DiMaggio, T., Jones, N., Stone, K. D., Sung, H., et al. (2018) · Genetics in Medicine

Ion channel regulation and functionGenetic Associations and Epidemiology

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Molecular and cytologic studies of Ehlers‐Danlos syndrome type VIII

Biesecker, L. G., Erickson, R. P., Glover, T. W., & Bonadio, J. (1991) · American Journal of Medical Genetics

Connective tissue disorders researchDermatological and Skeletal Disorders

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Workshop report: the clinical application of data from multiplex assays of variant effect (MAVEs), 12 July 2023

Allen, S., Garrett, A., Muffley, L., Fayer, S., Foreman, J., Adams, D. J., Hurles, M., Rubin, A. F., Roth, F. P., Starita, L. M., et al. (2024) · European Journal of Human Genetics

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