Personal profile
Research interests
I am a medical genetics. My clinical and research interests are the following:
- Congenital malformation syndromes
- Neurodevelopmental and neurodegenerative disorders
- Whole Exome Sequencing and Whole Genome Sequencing
Clinical interests
Congenital malformation syndromes, genetic evaluation of patients with developmental delay, intellectual disability, neurodegenerative diseases, whole exome sequencing, chromosomal microarray analysis, inborn metabolic disorders.
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Collaborations and top research areas from the last five years
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MCT8 Deficiency in Females
Groeneweg, S., Van Geest, F. S., Van Der Most, F., Abela, L., Alfieri, P., Bauer, A. J., Bertini, E., Cappa, M., Çelik, N., De Coo, I. F. M., Dolcetta-Capuzzo, A., Dubinski, I., Granadillo, J. L., Hoefsloot, L. H., Kalscheuer, V. M., Van Der Knoop, M. M., Krude, H., McNerney, K. P., Paone, L. & Peeters, R. P. & 9 others, , Jan 1 2026, In: Journal of Clinical Endocrinology and Metabolism. 111, 1, p. e175-e184Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
A survey of hypothalamic phenotypes identifies molecular and behavioral consequences of MYT1L haploinsufficiency in male and female mice
Maloney, S. E., McCullough, K. B., Chaturvedi, S. M., Selmanovic, D., Chase, R., Chen, J., Wu, S., Granadillo, J. L., Kroll, K. L. & Dougherty, J. D., Aug 2025, In: Hormones and Behavior. 174, 105796.Research output: Contribution to journal › Article › peer-review
Open Access -
Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder
Ng, B. G., Eklund, E. A., Rosenfeld, J. A., Elias, A. F., Abu-El-Haija, A., Bris, C., Barth, M., Chae, J. H., Choi, M., Dubbs, H. A., Fratter, C., Foulds, N., Gamble, C., Gavrilova, R. H., Haven, J., Hoffman, T. L., Hunter, J. V., Larson, A., Lotze, T. E. & Magoulas, P. & 28 others, , Jan 2025, In: Genetics in Medicine Open. 3, 103425.Research output: Contribution to journal › Article › peer-review
Open Access -
Developing a genetic return of results service core
Mckenzie, J. A., Mcroy, E., Bowling, K. M., Granadillo De Luque, J. L., Mozersky, J., Linnenbringer, E., Baldridge, D., Heusel, J. W., Neidich, J. A., Cashen, A. F., Bierut, L. J., Hartz, S. M. & Gurnett, C. A., Nov 17 2025, In: Journal of Clinical and Translational Science. 9, 1, e265.Research output: Contribution to journal › Article › peer-review
Open Access -
Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum
Wongkittichote, P., Guerra, R. M., Wegner, D. J., Toy, S., Hauer, J. A., Pagliarini, D. J. & Granadillo, J. L., Nov 2025, In: JIMD Reports. 66, 6, e70038.Research output: Contribution to journal › Article › peer-review
Open Access