Hildebrand, Michael S.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Vlaskamp, D. R. M., Shaw, B. J., Burgess, R., Mei, D., Montomoli, M., Xie, H., Myers, C. T., Bennett, M. F., XiangWei, W., Williams, D., et al. (2019) · Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 206

Genetic epilepsy with febrile seizures plus: Refining the spectrum

Zhang, Y.-H., Burgess, R., Malone, J. P., Glubb, G. C., Helbig, K. L., Vadlamudi, L., Kivity, S., Afawi, Z., Bleasel, A., Grattan-Smith, P., et al. (2017) · Neurology

Epilepsy research and treatmentPharmacological Effects and Toxicity Studies

Cited by 139

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

Ye, Z., Chatterton, Z., Pflueger, J., Damiano, J. A., McQuillan, L., Simon Harvey, A., Malone, S., Do, H., Maixner, W., Schneider, A., et al. (2021) · Brain Communications

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 77

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Stamberger, H., Hammer, T. B., Gardella, E., Vlaskamp, D. R. M., Bertelsen, B., Mandelstam, S., de Lange, I., Zhang, J., Myers, C. T., Fenger, C., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 57

Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes

Ye, Z., Bennett, M. F., Neal, A., Laing, J. A., Hunn, M. K., Wittayacharoenpong, T., Todaro, M., Patel, S. K., Bahlo, M., Kwan, P., et al. (2022) · Neurology

Epilepsy research and treatmentGenomics and Rare Diseases

Cited by 35

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike–Wave Activation in Sleep (D/EE‐SWAS )

Viswanathan, S., Oliver, K. L., Regan, B. M., Schneider, A. L., Myers, C. T., Mehaffey, M. G., LaCroix, A. J., Antony, J., Webster, R., Cardamone, M., et al. (2024) · Annals of Neurology

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk

Oliver, K. L., Trivisano, M., Mandelstam, S. A., De Dominicis, A., Francis, D. I., Green, T. E., Muir, A. M., Chowdhary, A., Hertzberg, C., Goldhahn, K., et al. (2023) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 23

miRNA mutations are not a common cause of deafness

Hildebrand, M. S., Witmer, P. D., Xu, S., Newton, S. S., Kahrizi, K., Najmabadi, H., Valle, D., & Smith, R. J. H. (2010) · American Journal of Medical Genetics Part A

Hearing, Cochlea, Tinnitus, GeneticsMicroRNA in disease regulation

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