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Sara M. Sarasua, Ph.D. - Publications

Affiliations: 
Genetics and Biochemistry Clemson University, Clemson, SC, United States 
Area:
Evolutionary genetics
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17 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Shah S, Sarasua SM, Boccuto L, Dean BC, Wang L. Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia. Genes. 14. PMID 38002941 DOI: 10.3390/genes14111998  0.358
2023 McCoy MD, Sarasua SM, DeLuca JM, Davis S, Rogers RC, Phelan K, Boccuto L. Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatric Nephrology (Berlin, Germany). PMID 37733098 DOI: 10.1007/s00467-023-06146-y  0.316
2023 Smith MS, Sarasua SM, Rogers C, Phelan K, Boccuto L. Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome. Clinical Genetics. PMID 37232218 DOI: 10.1111/cge.14364  0.376
2023 Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder KE, Weisensee K, Boccuto L. Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13. Genes. 14. PMID 36980813 DOI: 10.3390/genes14030540  0.375
2022 Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K. Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors. Genes. 13. PMID 35328081 DOI: 10.3390/genes13030528  0.361
2021 Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. Plos One. 16: e0253859. PMID 34228749 DOI: 10.1371/journal.pone.0253859  0.377
2021 Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, et al. DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clinical Epigenetics. 13: 2. PMID 33407854 DOI: 10.1186/s13148-020-00990-7  0.369
2020 Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature. European Journal of Medical Genetics. 104042. PMID 32822873 DOI: 10.1016/J.Ejmg.2020.104042  0.333
2019 Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. Plos One. 14: e0213921. PMID 30875393 DOI: 10.1371/Journal.Pone.0213921  0.377
2018 Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A. Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. European Journal of Human Genetics : Ejhg. PMID 29358616 DOI: 10.1038/S41431-017-0042-X  0.424
2015 Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations. Orphanet Journal of Rare Diseases. 10: 105. PMID 26306707 DOI: 10.1186/S13023-015-0323-9  0.385
2015 Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome. American Journal of Medical Genetics. Part A. 167: 1679-80. PMID 26295085 DOI: 10.1002/Ajmg.A.36788  0.356
2014 Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR. Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome. Human Genetics. 133: 847-59. PMID 24481935 DOI: 10.1007/S00439-014-1423-7  0.443
2014 Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 16: 318-28. PMID 24136618 DOI: 10.1038/Gim.2013.144  0.382
2013 Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, et al. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. European Journal of Human Genetics : Ejhg. 21: 310-6. PMID 22892527 DOI: 10.1038/Ejhg.2012.175  0.347
2011 Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). Journal of Medical Genetics. 48: 761-6. PMID 21984749 DOI: 10.1136/Jmedgenet-2011-100225  0.447
2011 Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Growth in Phelan-McDermid syndrome. American Journal of Medical Genetics. Part A. 155: 2324-6. PMID 21834045 DOI: 10.1002/Ajmg.A.34158  0.37
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