Constance Smith-hicks

2024

Resolution of severe neurobehavioral difficulties in an individual with Primrose syndrome with sertraline

Moon, Y. M., Park, S. E., Smith-Hicks, C. & Hauptman, A., 2024, (Accepted/In press) In: American Journal of Medical Genetics, Part A.

Research output: Contribution to journal › Article › peer-review

2023

An exploratory study of sleep quality and quantity in children with causal variants in SYNGAP1, an autism risk gene

Paasch, V., Doucoure, A., Bifano, M. & Smith-Hicks, C. L., Jul 2023, In: Sleep Medicine. 107, p. 101-107 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Clinical and functional consequences of GRIA variants in patients with neurological diseases

XiangWei, W., Perszyk, R. E., Liu, N., Xu, Y., Bhattacharya, S., Shaulsky, G. H., Smith-Hicks, C., Fatemi, A., Fry, A. E., Chandler, K., Wang, T., Vogt, J., Cohen, J. S., Paciorkowski, A. R., Poduri, A., Zhang, Y., Wang, S., Wang, Y., Zhai, Q., Fang, F., & 10 othersLeng, J., Garber, K., Myers, S. J., Jauss, R. T., Park, K. L., Benke, T. A., Lemke, J. R., Yuan, H., Jiang, Y. & Traynelis, S. F., Nov 2023, In: Cellular and Molecular Life Sciences. 80, 11, 345.

Research output: Contribution to journal › Article › peer-review

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., Graglia, J. M., Delagrammatikas, C., Bedrosian-Sermone, S., Beekhuyzen, J., Smith-Hicks, C., Sahin, M., Eng, C., Hardan, A. Y. & Uljarević, M., Jul 2023, In: American Journal of Medical Genetics, Part A. 191, 7, p. 1741-1757 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

Frazier, T. W., Busch, R. M., Klaas, P., Lachlan, K., Jeste, S., Kolevzon, A., Loth, E., Harris, J., Speer, L., Pepper, T., Anthony, K., Graglia, J. M., Delagrammatikas, C. G., Bedrosian-Sermone, S., Smith-Hicks, C., Huba, K., Longyear, R., Green-Snyder, L. A., Shic, F., Sahin, M., & 3 othersEng, C., Hardan, A. Y. & Uljarević, M., Sep 2023, In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 193, 3, e32058.

Research output: Contribution to journal › Article › peer-review

Open Access

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Genomic England Research Consortium, Dec 2023, In: Nature communications. 14, 1, 4109.

Research output: Contribution to journal › Article › peer-review

Open Access

Meaningful Improvements in Rett Syndrome: A Qualitative Study of Caregivers

McGraw, S. A., Smith-Hicks, C., Nutter, J., Henne, J. C. & Abler, V., Apr 2023, In: Journal of child neurology. 38, 5, p. 270-282 13 p.

Research output: Contribution to journal › Article › peer-review

Randomized clinical trial of low dose suramin intravenous infusions for treatment of autism spectrum disorder

Hough, D., Mao, A. R., Aman, M., Lozano, R., Smith-Hicks, C., Martinez-Cerdeno, V., Derby, M., Rome, Z., Malan, N. & Findling, R. L., Dec 2023, In: Annals of General Psychiatry. 22, 1, 45.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders

Acharya, A., Kavus, H., Dunn, P., Nasir, A., Folk, L., Withrow, K., Wentzensen, I. M., Ruzhnikov, M. R. Z., Fallot, C., Smol, T., Rama, M., Brown, K., Whalen, S., Ziegler, A., Barth, M., Chassevent, A., Smith-Hicks, C., Afenjar, A., Courtin, T., Heide, S., & 16 othersFont-Montgomery, E., Heid, C., Hamm, J. A., Love, D. R., Thabet, F., Misra, V. K., Cunningham, M., Leal, S. M., Jarvela, I., Normand, E. A., Zou, F., Helal, M., Keren, B., Torti, E., Chung, W. K. & Schrauwen, I., Jul 1 2022, In: Journal of medical genetics. 59, 7, p. 669-677 9 p.

Research output: Contribution to journal › Article › peer-review

Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy

Helman, G., Zarekiani, P., Tromp, S. A. M., Andrews, A., Botto, L. D., Bonkowsky, J. L., Chassevent, A., Giorgio, E., Pippucci, T., Wei, S., Smith-Hicks, C., Vaula, G., Willemsen, M. A. A. P., Schimmel, M., Vollert, K., Shimizu, F., Kanda, T., Lynch, M., Roscioli, T., Taft, R. J., & 4 othersSimons, C., Bugiani, M., Kuijpers, T. W. & van der Knaap, M. S., Nov 2022, In: Annals of neurology. 92, 5, p. 895-901 7 p.

Research output: Contribution to journal › Article › peer-review

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion

Calhoun, J. D., Aziz, M. C., Happ, H. C., Gunti, J., Gleason, C., Mohamed, N., Zeng, K., Hiller, M., Bryant, E., Mithal, D. S., Bellinski, I., Kinsley, L., Grimmel, M., Schwaibold, E. M. C., Smith-Hicks, C., Chassevent, A., Scala, M., Accogli, A., Torella, A., Striano, P., & 9 othersCapra, V., Bird, L. M., Ben-Sahra, I., Ekhilevich, N., Hershkovitz, T., Weiss, K., Millichap, J., Gerard, E. E. & Carvill, G. L., Jun 1 2022, In: Brain. 145, 6, p. 1939-1948 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., & 85 othersRodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S. & Kruer, M. C., Oct 7 2021, In: American journal of human genetics. 108, 10, p. 2006-2016 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

Djordjevic, D., Pinard, M., Gauthier, M. S., Smith-Hicks, C., Hoffman, T. L., Wolf, N. I., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B. & Yoon, G., Jan 7 2021, In: American journal of human genetics. 108, 1, p. 186-193 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Sleep abnormalities in the synaptopathies—syngap1-related intellectual disability and phelan–mcdermid syndrome

Smith-Hicks, C., Wright, D., Kenny, A., Stowe, R. C., McCormack, M., Stanfield, A. C. & Holder, J. L., Sep 2021, In: Brain Sciences. 11, 9, 1229.

Research output: Contribution to journal › Article › peer-review

Open Access

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction

Lenaerts, L., Reynhout, S., Verbinnen, I., Laumonnier, F., Toutain, A., Bonnet-Brilhault, F., Hoorne, Y., Joss, S., Chassevent, A. K., Smith-Hicks, C., Loeys, B., Joset, P., Steindl, K., Rauch, A., Mehta, S. G., Chung, W. K., Devriendt, K., Holder, S. E., Jewett, T., Baldwin, L. M., & 32 othersWilson, W. G., Towner, S., Srivastava, S., Johnson, H. F., Daumer-Haas, C., Baethmann, M., Ruiz, A., Gabau, E., Jain, V., Varghese, V., Al-Beshri, A., Fulton, S., Wechsberg, O., Orenstein, N., Prescott, K., Childs, A. M., Faivre, L., Moutton, S., Sullivan, J. A., Shashi, V., Koudijs, S. M., Heijligers, M., Kivuva, E., McTague, A., Male, A., van Ierland, Y., Plecko, B., Maystadt, I., Hamid, R., Hannig, V. L., Houge, G. & Janssens, V., Feb 2021, In: Genetics in Medicine. 23, 2, p. 352-362 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders

May, H. J., Jeong, J., Revah-Politi, A., Cohen, J. S., Chassevent, A., Baptista, J., Baugh, E. H., Bier, L., Bottani, A., Maria, M. T., Conlon, C., Fluss, J., Guipponi, M., Kim, C. A., Matsumoto, N., Person, R., Primiano, M., Rankin, J., Shinawi, M., Smith-Hicks, C., & 7 othersTelegrafi, A., Toy, S., Uchiyama, Y., Aggarwal, V., Goldstein, D. B., Roche, K. W. & Anyane-Yeboa, K., Oct 2021, In: Genetics in Medicine. 23, 10, p. 1912-1921 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

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 journal › Article › peer-review

Open Access

2 Scopus citations

Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder

Gold, N. B., Li, D., Chassevent, A., Kaiser, F. J., Parenti, I., Strom, T. M., Ramos, F. J., Puisac, B., Pié, J., McWalter, K., Guillen Sacoto, M. J., Cui, H., Saadeh-Haddad, R., Smith-Hicks, C., Rodan, L., Blair, E. & Bhoj, E., Dec 2020, In: Clinical Genetics. 98, 6, p. 571-576 6 p.

Research output: Contribution to journal › Article › peer-review

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 journal › Article › peer-review

7 Scopus citations

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 othersSullivan, 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 journal › Article › peer-review

Open Access

7 Scopus citations

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 othersPinz, H., Ramos, L., Shinde, D. N., Smith-Hicks, C., 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 journal › Article › peer-review

Open Access

10 Scopus citations

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 journal › Article › peer-review

Open Access

5 Scopus citations

2018

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

Nguyen, T. T. M., Mahida, S., Smith-Hicks, C. & Campeau, P. M., Jun 2018, In: Human mutation. 39, 6, p. 827-829 3 p.

Research output: Contribution to journal › Article › peer-review

Open Access

7 Scopus citations

De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Ullman, N. L., Smith-Hicks, C. L., Desai, S. & Stafstrom, C. E., Aug 2018, In: Pediatric Neurology. 85, p. 76-78 3 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Monogenic disorders that mimic the phenotype of Rett syndrome

Srivastava, S., Desai, S., Cohen, J., Smith-Hicks, C., Barañano, K., Fatemi, A. & Naidu, S. B., Jan 1 2018, In: Neurogenetics. 19, 1, p. 41-47 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

23 Scopus citations

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 othersBalasubramanian, 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 journal › Article › peer-review

29 Scopus citations

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 othersHelbig, 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., 2018, In: Neurology. 91, 22, p. e2078-e2088

Research output: Contribution to journal › Article › peer-review

Open Access

36 Scopus citations

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 othersGenevieve, 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 journal › Article › peer-review

Open Access

9 Scopus citations

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., Myers, S. M., Sanyal, A., Yenokyan, G., Brenner, J. & Naidu, S. R., Jun 2017, In: American Journal of Medical Genetics, Part A. 173, 6, p. 1495-1501 7 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Increased sparsity of hippocampal CA1 neuronal ensembles in a mouse model of down syndrome assayed by Arc expression

Smith-Hicks, C. L., Cai, P., Savonenko, A. V., Reeves, R. H. & Worley, P. F., Feb 3 2017, In: Frontiers in neural circuits. 11, 6.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

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 journal › Article › peer-review

2 Scopus citations

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., 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 journal › Article › peer-review

Open Access

16 Scopus citations

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 journal › Article › peer-review

Open Access

142 Scopus citations

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 2010, In: Epilepsy and Behavior. 18, 4, p. 344-357 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

14 Scopus citations

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 2010, In: Nature neuroscience. 13, 9, p. 1082-1089 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

50 Scopus citations

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 journal › Article › peer-review

Open Access