Research output per year
Research output per year
Personal profile
Research interests
My current clinical research interests include clinical trials for new therapies for phenylketonuria (PKU) and Down syndrome. I am also interested in identification and delineation of genetic syndromes. I am involved with diagnosis and management of inborn errors of metabolism, birth defects, malformation syndromes, chromosomal disorders, Marfan syndrome and other connective tissue disorders.
Clinical interests
medical genetics, genetic disease, genetic counseling, inherited disorders, inborn errors of metabolism, phenylketonuria (PKU), birth defects, malformation syndromes, chromosomal disorders, metabolic disorders,Marfan syndrome, connective tissue disorders, overgrowth disorders, craniofacial disorders, pediatric pathology
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Collaborations and top research areas from the last five years
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A novel ABCC9 variant in a Greek family with Cantu syndrome affecting multiple generations highlights the functional role of the SUR2B NBD1
Gao, J., Ververi, A., Thompson, E., Tryon, R., Sotiriadis, A., Rouvalis, F., Grange, D. K., Giannios, C. & Nichols, C., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.Research output: Contribution to journal › Article › peer-review
Open Access -
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Jones, A. G., Aquilino, M., Tinker, R. J., Duncan, L., Jenkins, Z., Carvill, G. L., DeWard, S. J., Grange, D. K., Hajianpour, M. J., Halliday, B. J., Holder-Espinasse, M., Horvath, J., Maitz, S., Nigro, V., Morleo, M., Paul, V., Spencer, C., Esterhuizen, A. I., Polster, T. & Spano, A. & 8 others, , Apr 4 2024, In: American journal of human genetics. 111, 4, p. 729-741 13 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
Care4Rare Canada Consortium & Undiagnosed Diseases Network, Apr 4 2024, In: American journal of human genetics. 111, 4, p. 778-790 13 p.Research output: Contribution to journal › Article › peer-review
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Erratum: De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features (The American Journal of Human Genetics (2024) 111(4) (778–790), (S0002929724000739), (10.1016/j.ajhg.2024.02.016))
Care4Rare Canada Consortium & Undiagnosed Diseases Network, Jun 6 2024, In: American journal of human genetics. 111, 6, p. 1240 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Initial results from the PHEFREE longitudinal natural history study: Cross-sectional observations in a cohort of individuals with phenylalanine hydroxylase (PAH) deficiency
Christ, S. E., Arnold, G., Lichter-Konecki, U., Berry, G. T., Grange, D. K., Harding, C. O., Jurecki, E., Levy, H., Longo, N., Morotti, H., Sacharow, S., Thomas, J. & White, D. A., Sep 1 2024, In: Molecular genetics and metabolism. 143, 1-2, 108541.Research output: Contribution to journal › Article › peer-review