Constance Leonie Smith-Hicks

Assistant Professor

20002020

Research output per year

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Research Output

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Article
2020

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Undiagnosed Diseases Network, & University of Washington Center for Mendelian Genomics (UW-CMG), Mar 1 2020, In : Genetics in Medicine. 22, 3, p. 538-546 9 p.

Research output: Contribution to journalArticle

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., Jamal, L., Dixon, S. & Mahida, S., Apr 2019, In : Journal of Genetic Counseling. 28, 2, p. 304-312 9 p.

Research output: Contribution to journalArticle

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

Holt, R. J., Young, R. M., Crespo, B., Ceroni, F., Curry, C. J., Bellacchio, E., Bax, D. A., Ciolfi, A., Simon, M., Fagerberg, C. R., van Binsbergen, E., De Luca, A., Memo, L., Dobyns, W. B., Mohammed, A. A., Clokie, S. J. H., Zazo Seco, C., Jiang, Y. H., Sørensen, K. P., Andersen, H. & 14 others, Sullivan, J., Powis, Z., Chassevent, A., Smith-Hicks, C., Petrovski, S., Antoniadi, T., Shashi, V., Gelb, B. D., Wilson, S. W., Gerrelli, D., Tartaglia, M., Chassaing, N., Calvas, P. & Ragge, N. K., Sep 5 2019, In : American journal of human genetics. 105, 3, p. 640-657 18 p.

Research output: Contribution to journalArticle

Open Access

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

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
2018

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

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C. L., Baranano, K., Fatemi, A. & Naidu, S., Jan 10 2018, (Accepted/In press) In : Neurogenetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome

Zarate, Y. A., Smith-Hicks, C. L., Greene, C., Abbott, M. A., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., Bosanko, K., Kalsner, L., Basinger, A., Slavotinek, A. M., Perry, H., Saenz, M., Szybowska, M., Wilson, L. C., Kumar, A., Brain, C. & 38 others, Balasubramanian, M., Dubbs, H., Ortiz-Gonzalez, X. R., Zackai, E., Stein, Q., Powell, C. M., Schrier Vergano, S., Britt, A., Sun, A., Smith, W., Bebin, E. M., Picker, J., Kirby, A., Pinz, H., Bombei, H., Mahida, S., Cohen, J. S., Fatemi, A., Vernon, H. J., McClellan, R., Fleming, L. R., Knyszek, B., Steinraths, M., Velasco Gonzalez, C., Beck, A. E., Golden-Grant, K. L., Egense, A., Parikh, A., Raimondi, C., Angle, B., Allen, W., Schott, S., Algrabli, A., Robin, N. H., Ray, J. W., Everman, D. B., Gambello, M. J. & Chung, W. K., Apr 2018, In : American Journal of Medical Genetics, Part A. 176, 4, p. 925-935 11 p.

Research output: Contribution to journalArticle

Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Zagaglia, S., Selch, C., Nisevic, J. R., Mei, D., Michalak, Z., Hernandez-Hernandez, L., Krithika, S., Vezyroglou, K., Varadkar, S. M., Pepler, A., Biskup, S., Leão, M., Gärtner, J., Merkenschlager, A., Jaksch, M., Møller, R. S., Gardella, E., Kristiansen, B. S., Hansen, L. K., Vari, M. S. & 29 others, Helbig, K. L., Desai, S., Smith-Hicks, C. L., Hino-Fukuyo, N., Talvik, T., Laugesaar, R., Ilves, P., Õunap, K., Körber, I., Hartlieb, T., Kudernatsch, M., Winkler, P., Schimmel, M., Hasse, A., Knuf, M., Heinemeyer, J., Makowski, C., Ghedia, S., Subramanian, G. M., Striano, P., Thomas, R. H., Micallef, C., Thom, M., Werring, D. J., Kluger, G. J., Cross, J. H., Guerrini, R., Balestrini, S. & Sisodiya, S. M., Jan 1 2018, In : Neurology. 91, 22, p. e2078-e2088

Research output: Contribution to journalArticle

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly

Schanze, I., Bunt, J., Lim, J. W. C., Schanze, D., Dean, R. J., Alders, M., Blanchet, P., Attié-Bitach, T., Berland, S., Boogert, S., Boppudi, S., Bridges, C. J., Cho, M. T., Dobyns, W. B., Donnai, D., Douglas, J., Earl, D. L., Edwards, T. J., Faivre, L., Fregeau, B. & 29 others, Genevieve, D., Gérard, M., Gatinois, V., Holder-Espinasse, M., Huth, S. F., Izumi, K., Kerr, B., Lacaze, E., Lakeman, P., Mahida, S., Mirzaa, G. M., Morgan, S. M., Nowak, C., Peeters, H., Petit, F., Pilz, D. T., Puechberty, J., Reinstein, E., Rivière, J. B., Santani, A. B., Schneider, A., Sherr, E. H., Smith-Hicks, C., Wieland, I., Zackai, E., Zhao, X., Gronostajski, R. M., Zenker, M. & Richards, L. J., Nov 1 2018, In : American journal of human genetics. 103, 5, p. 752-768 17 p.

Research output: Contribution to journalArticle

2017

Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype

Crosson, J., Srivastava, S., Bibat, G. M., Gupta, S., Kantipuly, A., Smith-Hicks, C. L., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J. & Naidu, S., 2017, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Neuroimaging Abnormalities in a Child With Infantile Spasms on High-Dose Vigabatrin

Sun, L., Bosemani, T. & Smith-Hicks, C. L., Feb 1 2017, In : Pediatric Neurology. 67, p. 109-110 2 p.

Research output: Contribution to journalArticle

Randomized open-label trial of dextromethorphan in Rett syndrome

Smith-Hicks, C. L., Gupta, S., Ewen, J. B., Hong, M., Kratz, L., Kelley, R., Tierney, E., Vaurio, R., Bibat, G. M., Sanyal, A., Yenokyan, G., Brereton, N., Johnston, M. V. & Naidu, S., Oct 17 2017, In : Neurology. 89, 16, p. 1684-1690 7 p.

Research output: Contribution to journalArticle

2011

Activity-Induced Notch Signaling in Neurons Requires Arc/Arg3.1 and Is Essential for Synaptic Plasticity in Hippocampal Networks

Alberi, L., Liu, S., Wang, Y., Badie, R., Smith-Hicks, C., Wu, J., Pierfelice, T. J., Abazyan, B., Mattson, M. P., Kuhl, D., Pletnikov, M., Worley, P. F. & Gaiano, N., Feb 10 2011, In : Neuron. 69, 3, p. 437-444 8 p.

Research output: Contribution to journalArticle

2010

Functional integration of new neurons into hippocampal networks and poststroke comorbidities following neonatal stroke in mice

Kadam, S. D., Smith-Hicks, C. L., Smith, D. R., Worley, P. F. & Comi, A. M., Aug 1 2010, In : Epilepsy and Behavior. 18, 4, p. 344-357 14 p.

Research output: Contribution to journalArticle

SRF binding to SRE 6.9 in the Arc promoter is essential for LTD in cultured Purkinje cells

Smith-Hicks, C., Xiao, B., Deng, R., Ji, Y., Zhao, X., Shepherd, J. D., Posern, G., Kuhl, D., Huganir, R. L., Ginty, D. D., Worley, P. F. & Linden, D. J., Sep 1 2010, In : Nature neuroscience. 13, 9, p. 1082-1089 8 p.

Research output: Contribution to journalArticle

2008

Elongation Factor 2 and Fragile X Mental Retardation Protein Control the Dynamic Translation of Arc/Arg3.1 Essential for mGluR-LTD

Park, S., Park, J. M., Kim, S., Kim, J. A., Shepherd, J. D., Smith-Hicks, C. L., Chowdhury, S., Kaufmann, W., Kuhl, D., Ryazanov, A. G., Huganir, R. L., Linden, D. J. & Worley, P. F., Jul 10 2008, In : Neuron. 59, 1, p. 70-83 14 p.

Research output: Contribution to journalArticle

2007

A double blind randomized placebo control trial of levetiracetam in Tourette syndrome

Smith-Hicks, C. L., Bridges, D. D., Paynter, N. P. & Singer, H. S., Sep 15 2007, In : Movement Disorders. 22, 12, p. 1764-1770 7 p.

Research output: Contribution to journalArticle

2005
2000

C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B

Smith-Hicks, C. L., Sizer, K. C., Powers, J. F., Tischler, A. S. & Costantini, F., Feb 15 2000, In : EMBO Journal. 19, 4, p. 612-622 11 p.

Research output: Contribution to journalArticle