Constance Leonie Smith-Hicks

Assistant Professor

20002019
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Fingerprint Dive into the research topics where Constance Leonie Smith-Hicks is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 3 Similar Profiles
Rett Syndrome Medicine & Life Sciences
Exome Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Mutation Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Nervous System Medicine & Life Sciences
Tourette Syndrome Medicine & Life Sciences
etiracetam Medicine & Life Sciences

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Research Output 2000 2019

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions

Li, X., Nusbaum, R., Smith-Hicks, C. L., Jamal, L., Dixon, S. & Mahida, S., Apr 1 2019, In : Journal of Genetic Counseling. 28, 2, p. 304-312 9 p.

Research output: Contribution to journalArticle

Exome
Caregivers
Child Care
Legal Guardians
Emotions

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

Platzer, K., Sticht, H., Edwards, S. L., Allen, W., Angione, K. M., Bonati, M. T., Brasington, C., Cho, M. T., Demmer, L. A., Falik-Zaccai, T., Gamble, C. N., Hellenbroich, Y., Iascone, M., Kok, F., Mahida, S., Mandel, H., Marquardt, T., McWalter, K., Panis, B., Pepler, A. & 12 others, Pinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C. L., Stegmann, A. P. A., Stöbe, P., Stumpel, C. T. R. M., Wilson, C., Lemke, J. R., Di Donato, N., Miller, K. G. & Jamra, R., Feb 7 2019, In : American Journal of Human Genetics. 104, 2, p. 203-212 10 p.

Research output: Contribution to journalArticle

Exome
Intellectual Disability
Clustered Regularly Interspaced Short Palindromic Repeats
Axonal Transport
Corpus Callosum

Rett syndrome and CDKL5 deficiency disorder: From bench to clinic

Kadam, S. D., Sullivan, B. J., Goyal, A., Blue, M. E. & Smith-Hicks, C., Oct 2 2019, In : International journal of molecular sciences. 20, 20, 5098.

Research output: Contribution to journalArticle

Open Access
Cyclin-Dependent Kinase 5
Rett Syndrome
Cyclin-Dependent Kinases
seats
Methyl-CpG-Binding Protein 2

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism

Nguyen, T. T. M., Mahida, S., Smith-Hicks, C. L. & Campeau, P. M., Jan 1 2018, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

Glycosylphosphatidylinositols
Autistic Disorder
Mutation
Febrile Seizures
Muscle Hypotonia
Developmental Disabilities
Intellectual Disability
Epilepsy
Mutation