Research output per year
Research output per year
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
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior
Liu, A. C., Shen, Y., Serbinski, C. R., He, H., Roman, D., Endale, M., Aschbacher-Smith, L., King, K. A., Granadillo, J. L., López, I., Krueger, D. A., Dye, T. J., Smith, D. F., Hogenesch, J. B. & Prada, C. E., Oct 10 2024, In: Human Genetics and Genomics Advances. 5, 4, 100333.Research output: Contribution to journal › Article › peer-review
Open Access -
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
Baylor College of Medicine Center for Precision Medicine Models, Apr 4 2024, In: American journal of human genetics. 111, 4, p. 742-760 19 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure
Wambach, J. A., Wegner, D. J., Kitzmiller, J., White, F. V., Heins, H. B., Yang, P., Paul, A. J., Granadillo, J. L., Eghtesady, P., Kuklinski, C., Turner, T., Fairman, K., Stone, K., Wilson, T., Breman, A., Smith, J., Schroeder, M. C., Neidich, J. A., Whitsett, J. A. & Cole, F. S., Jan 2024, In: American Journal of Respiratory Cell and Molecular Biology. 70, 1, p. 78-80 3 p.Research output: Contribution to journal › Letter › peer-review
1 Scopus citations -
MFSD7c functions as a transporter of choline at the blood–brain barrier
Nguyen, X. T. A., Le, T. N. U., Nguyen, T. Q., Thi Thuy Ha, H., Artati, A., Leong, N. C. P., Nguyen, D. T., Lim, P. Y., Susanto, A. V., Huang, Q., Fam, L., Leong, L. N., Bonne, I., Lee, A., Granadillo, J. L., Gooch, C., Yu, D., Huang, H., Soong, T. W. & Chang, M. W. & 4 others, , Mar 2024, In: Cell Research. 34, 3, p. 245-257 13 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
Undiagnosed Diseases Network, Granadillo De Luque, J. L., Wegner, D. J., Baldridge, D., Bohnsack, J., Cole, F. S., McCray, A. T., McGee, E., Merritt, J. L., Shin, J. & Wambach, J., May 4 2023, In: American journal of human genetics. 110, 5, p. 774-789 16 p.Research output: Contribution to journal › Article › peer-review
Open Access10 Scopus citations