Recent Broad Publications

Hopping between Differentiation States in Lung Adenocarcinoma.
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Programmable repression and activation of bacterial gene expression using an engineered CRISPR-Cas system.
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The Genome of Anopheles darlingi, the main neotropical malaria vector.
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ATHLATES: accurate typing of human leukocyte antigen through exome sequencing.
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Integrated proteomic analysis of post-translational modifications by serial enrichment.
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Scientific Publications

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Filters: Author is Dauber, A [Clear All Filters]

2013

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3.Abreu, AP, Dauber A., Macedo DB, Noel SD, Brito VN, Gill JC, Cukier P., Thompson IR, Navarro VM, Gagliardi PC, Rodrigues T., Kochi C., Longui CA, Beckers D., de Zegher F., Montenegro LR, Mendonca BB, Carroll RS, Hirschhorn JN, Latronico AC, et al. The New England journal of medicine, 2013/06/05, (2013) Read More / View Supplemental Materials

2012

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder.Dauber, A., Stoler J., Hechter E., Safer J., and Hirschhorn JN The Journal of pediatrics, 2012/09/10, (2012) Read More / View Supplemental Materials

Novel Microcephalic Primordial Dwarfism Disorder Associated with Variants in the Centrosomal Protein Ninein.Dauber, A., Lafranchi SH, Maliga Z., Lui JC, Moon JE, McDeed C., Henke K., Zonana J., Kingman GA, Pers TH, Baron J., Rosenfeld RG, Hirschhorn JN, Harris MP, and Hwa V. The Journal of clinical endocrinology and metabolism, 2012/08/29, (2012) Read More / View Supplemental Materials

2011

Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions.Dauber, A., Yu Y., Turchin MC, Chiang CW, Meng YA, Demerath EW, Patel SR, Rich SS, Rotter JI, Schreiner PJ, Wilson JG, Shen Y., Wu BL, and Hirschhorn JN American journal of human genetics, 2011/12/09, Volume 89, Issue 6, p.751-9, (2011) Read More / View Supplemental Materials

Genetic Defect in CYP24A1, the Vitamin D 24-Hydroxylase Gene, in a Patient with Severe Infantile Hypercalcemia.Dauber, A., Nguyen TT, Sochett E., Cole DE, Horst R., Abrams SA, Carpenter TO, and Hirschhorn JN The Journal of clinical endocrinology and metabolism, 2011/11/23, (2011) Read More / View Supplemental Materials