Dauber, Andrew

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

Abreu, A. P., Dauber, A., Macedo, D. B., Noel, S. D., Brito, V. N., Gill, J. C., Cukier, P., Thompson, I. R., Navarro, V. M., Gagliardi, P. C., et al. (2013) · New England Journal of Medicine

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 534

Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3

Macedo, D. B., Abreu, A. P., Reis, A. C. S., Montenegro, L. R., Dauber, A., Beneduzzi, D., Cukier, P., Silveira, L. F. G., Teles, M. G., Carroll, R. S., et al. (2014) · The Journal of Clinical Endocrinology & Metabolism

Hypothalamic control of reproductive hormonesGenetic Syndromes and Imprinting

Cited by 140

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., et al. (2019) · The American Journal of Human Genetics

Cellular transport and secretionGenetics and Neurodevelopmental Disorders

Cited by 134

Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A

Connective tissue disorders researchProteoglycans and glycosaminoglycans research

Cited by 52

Delayed Puberty Due to a Novel Mutation in CHD7 Causing CHARGE Syndrome

Dauber, A., Hirschhorn, J. N., Picker, J., Maher, T. A., & Milunsky, A. (2010) · Pediatrics

Congenital Ear and Nasal AnomaliesGenomics and Rare Diseases

Cited by 20

The insulin-only bionic pancreas improves glycemic control in non-Hispanic White and minority adults and children with type 1 diabetes

Castellanos, L. E., Russell, S. J., Damiano, E. R., Beck, R. W., Shah, V. N., Bailey, R., Calhoun, P., Bird, K., Mauras, N., Bionic Pancreas Research Group, et al. (2023) · Diabetes Care

Diabetes Management and ResearchPancreatic function and diabetes

Cited by 11

Algorithm-driven electronic health record notification enhances the detection of Turner syndrome

Alexandrou, E., Cabrera-Salcedo, C., Labilloy, G., Tyzinski, L., Smolarek, T. A., Andrew, M., Huang, Y., Backeljauw, P., & Dauber, A. (2020) · The Journal of Pediatrics

Electronic Health Records SystemsGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 6

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 3