Constance Smith-hicks

Research output

Research output per year 2000 2005 2017 2018 2019 2021 2022 2023 2024

• 40 Article
• 5 Chapter
• 2 Review article
• 1 Comment/debate
• 1 More
  • 1 Editorial

Research output per year

Research output per year

Search results

• 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

  • Autistic Disorder 100%
  • Sleep 78%
  • Intellectual Disability 43%
  • Child 43%
  • Genes 40%

• 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

  • Psychologic Desensitization 100%
  • AMPA Receptors 90%
  • Glutamate Receptors 84%
  • Genetic Variation 74%
  • Reaction Time 72%

• 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

  • Multiple Hamartoma Syndrome 100%
  • Neurodevelopmental Disorders 33%
  • Psychometrics 17%
  • Discriminant Analysis 10%
  • Clinical Trials 6%

• 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

  • Artificial Intelligence 100%
  • Mutation 31%
  • Vocabulary 23%
  • Discriminant Analysis 21%
  • Intellectual Disability 17%

• Early Diagnosis and Management of Autism Spectrum Disorder (ASD) in Low-Resource Countries—Challenges and Strategies

  Singhi, P. & Smith-Hicks, C., Apr 2023, In: Indian journal of pediatrics. 90, 4, p. 362-363 2 p.

  Research output: Contribution to journal › Editorial › 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

  • Neurodevelopmental Disorders 100%
  • Neurogenesis 90%
  • chromatin 73%
  • Disorder 72%
  • disorders 65%

• 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

  • Rett Syndrome 100%
  • Caregivers 63%
  • Motor Skills 12%
  • Neurodevelopmental Disorders 12%
  • Thinking 10%

• 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

  • Suramin 100%
  • Autism Spectrum Disorder 76%
  • Intravenous Infusions 72%
  • Placebos 51%
  • Randomized Controlled Trials 49%
• 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

  • Neurodevelopmental Disorders 100%
  • Muscle Hypotonia 68%
  • Seizures 65%
  • Genotype 40%
  • Language Development Disorders 37%

• Erratum: De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy (The American Journal of Human Genetics (2021) 108(1) (186–193), (S0002929720304389), (10.1016/j.ajhg.2020.12.002))

  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., Apr 7 2022, In: American journal of human genetics. 109, 4, p. 759-763 5 p.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Human Genetics 100%
  • Ataxia 86%

• 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

  • Leukoencephalopathies 100%
  • Central Nervous System 55%
  • Adams Oliver syndrome 44%
  • Vascular Calcification 32%
  • Autopsy 21%

• 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

  • Mechanistic Target of Rapamycin Complex 1 100%
  • Corpus Callosum 88%
  • Megalencephaly 74%
  • Neurodevelopmental Disorders 62%
  • Epilepsy 44%
• 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

  • Spermatogenesis 100%
  • Cerebral Palsy 96%
  • Hearing Loss 87%
  • Intellectual Disability 87%
  • Epilepsy 77%

• 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

  • Ataxia 100%
  • Enzymes 51%
  • RNA Polymerase III 43%
  • Catalytic RNA 41%
  • Peripheral Nervous System Diseases 33%

• 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

  • Intellectual Disability 100%
  • Sleep 82%
  • Neurodevelopmental Disorders 37%
  • Synapses 19%
  • N syndrome 19%

• 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

  • Protein Phosphatase 2 100%
  • Neurodevelopmental Disorders 90%
  • Intellectual Disability 72%
  • Epilepsy 43%
  • Megalencephaly 36%

• The impact of x-chromosome inactivation on phenotypic expression of x-linked neurodevelopmental disorders

  Brand, B. A., Blesson, A. E. & Smith-Hicks, C. L., Jul 2021, In: Brain Sciences. 11, 7, 904.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • X Chromosome Inactivation 100%
  • Neurodevelopmental Disorders 90%
  • Chromosomes 60%
  • Genes 30%
  • X Chromosome 17%

• 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

  • Dendritic Spines 100%
  • Exome 98%
  • Neurodevelopmental Disorders 96%
  • Neurons 50%
  • Phenotype 49%
• 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

  • Neurodevelopmental Disorders 100%
  • Zinc Fingers 96%
  • Autism Spectrum Disorder 88%
  • Intellectual Disability 68%
  • Proteins 31%
  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

  • Autism Spectrum Disorder 100%
  • Casein Kinase I 75%
  • Exome 57%
  • Comparative Genomic Hybridization 57%
  • Morphogenesis 48%
• 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

  • Whole Exome Sequencing 100%
  • Caregivers 72%
  • Child 36%
  • Child Care 30%
  • Legal Guardians 23%
  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

  • Eye 100%
  • Jaw 99%
  • Phenotype 97%
  • Brain 79%
  • Zebrafish 65%
  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

  • Exome 100%
  • Intellectual Disability 78%
  • Polymicrogyria 63%
  • Cerebellar Hypoplasia 63%
  • Axonal Transport 52%
  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

  • Cyclin-Dependent Kinases 100%
  • Cyclin-Dependent Kinase 5 73%
  • Rett Syndrome 67%
  • seats 52%
  • CDKL5 deficiency disorder 49%
  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

  • Glycosylphosphatidylinositol deficiency 100%
  • Autistic Disorder 51%
  • Mutation 29%
  • N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase 28%
  • Febrile Seizures 22%
  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

  • Rett Syndrome 100%
  • Methyl-CpG-Binding Protein 2 69%
  • Phenotype 44%
  • Whole Exome Sequencing 32%
  • Atypical Rett Syndrome 17%
  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

  • Genetic Association Studies 100%
  • Natural History 94%
  • Malocclusion 21%
  • Cleft Palate 20%
  • Counseling 15%
  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

  • Epilepsy 100%
  • Nervous System 96%
  • Phenotype 71%
  • Mutation 66%
  • Electroencephalography 60%
  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

  • Megalencephaly 100%
  • Haploinsufficiency 90%
  • Intellectual Disability 66%
  • NFI Transcription Factors 52%
  • Brain 34%
  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

  • Rett Syndrome 100%
  • Genotype 52%
  • Mutation 29%
  • Electrocardiography 25%
  • Sudden Death 10%
  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

  • Down Syndrome 100%
  • Pyramidal Cells 22%
  • Messenger RNA 18%
  • Learning 15%
  • Exploratory Behavior 13%
  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

  • Dextromethorphan 100%
  • Rett Syndrome 95%
  • Seizures 18%
  • Checklist 15%
  • Electroencephalography 13%
  16 Scopus citations
• 2013

  GABAergic dysfunction in pediatric neuro-developmental disorders

  Smith-Hicks, C. L., Dec 19 2013, In: Frontiers in Cellular Neuroscience. 7, DEC, 269.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • gamma-Aminobutyric Acid 100%
  • Neuronal Plasticity 99%
  • Nervous System 84%
  • Pediatrics 67%
  14 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

  • Neuronal Plasticity 100%
  • Neurons 64%
  • Learning 51%
  • Memory 50%
  • Long-Term Potentiation 39%
  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

  • Comorbidity 100%
  • Stroke 87%
  • Neurons 78%
  • Epilepsy 64%
  • Hippocampus 40%
  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

  • Purkinje Cells 100%
  • Cultured Cells 74%
  • Bacterial Artificial Chromosomes 73%
  • Transfection 30%
  • Binding Sites 27%
  50 Scopus citations
• 2008

  Developmental and Pregnancy-Related Changes in Cerebrospinal Fluid Dynamics and Composition

  Smith-Hicks, C., Jan 1 2008, Cerebrospinal Fluid in Clinical Practice. Elsevier, p. 27-31 5 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• Developmental Disorders

  Smith-Hicks, C. & Raymond, G. V., Jan 1 2008, Cerebrospinal Fluid in Clinical Practice. Elsevier, p. 93-98 6 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

• 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

  • Peptide Elongation Factor 2 100%
  • Fragile X Mental Retardation Protein 99%
  • Metabotropic Glutamate Receptors 81%
  • Metabotropic Glutamate 5 Receptor 14%
  • Calcium-Calmodulin-Dependent Protein Kinases 11%
  384 Scopus citations
• 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 journal › Article › peer-review

  • Levetiracetam 100%
  • Tourette Syndrome 97%
  • Tics 96%
  • Placebos 51%
  • Child 13%
  58 Scopus citations
• 2005

  Case 9: pregnant? Who's pregnant? Memory loss in a young woman.

  Smith-Hicks, C., 2005, In: MedGenMed : Medscape general medicine. 7, 2, 1 p.

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

• Clinical cases in neurology from Johns Hopkins - Case 9: Pregnant? Who's pregnant?: Memory loss in a young woman

  Smith-Hicks, C., 2005, In: MedGenMed Medscape General Medicine. 7, 2

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

• Neurocysticercosis

  Smith-Hicks, C. L. & Kossoff, E. H., Jan 1 2005, Treatment of Pediatric Neurologic Disorders. CRC Press, p. 303-307 5 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Taenia solium 100%
  • Neurocysticercosis 96%
  • Fertilizers 52%
  • Cysticercus 50%
  • Cysticercosis 47%

• Tourette syndrome

  Singer, H. S., Smith-Hicks, C. & Lieberman, D., 2005, Movement Disorders. Elsevier Inc., p. 431-440 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Tourette Syndrome 100%
  • Tics 66%
  • Chronic Motor Tics 47%
  • Waxes 32%
  • Obsessive-Compulsive Disorder 28%
  1 Scopus citations
• 2004

  Tourette Syndrome

  Singer, H. S., Smith-Hicks, C. & Lieberman, D., Dec 28 2004, Movement Disorders: Genetics and Models: Second Edition. Elsevier Ltd, p. 431-440 10 p.

  Research output: Chapter in Book/Report/Conference proceeding › Chapter

  • Tourette Syndrome 100%
  • Tics 66%
  • Chronic Motor Tics 47%
  • Waxes 32%
  • Obsessive-Compulsive Disorder 28%
• 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 journal › Article › peer-review

  Open Access

  • Multiple Endocrine Neoplasia Type 2b 100%
  • Ganglioneuroma 89%
  • Developmental 75%
  • Pheochromocytoma 69%
  • Hyperplasia 55%
  117 Scopus citations