Sara M. Sarasua, Ph.D.
Affiliations: | Genetics and Biochemistry | Clemson University, Clemson, SC, United States |
Area:
Evolutionary geneticsGoogle:
"Sara Sarasua"Parents
Sign in to add mentor| Amy L. Lawton-Rauh | grad student | 2012 | Clemson University | |
| (Analysis of genotype, phenotype, and age progression of Phelan-McDermid syndrome.) | ||||
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Publications
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| Shah S, Sarasua SM, Boccuto L, et al. (2023) Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia. Genes. 14 |
| McCoy MD, Sarasua SM, DeLuca JM, et al. (2023) Genetics of kidney disorders in Phelan-McDermid syndrome: evidence from 357 registry participants. Pediatric Nephrology (Berlin, Germany) |
| Smith MS, Sarasua SM, Rogers C, et al. (2023) Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome. Clinical Genetics |
| Sarasua SM, DeLuca JM, Rogers C, et al. (2023) Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13. Genes. 14 |
| Boccuto L, Mitz A, Abenavoli L, et al. (2022) Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors. Genes. 13 |
| Srikanth S, Jain L, Zepeda-Mendoza C, et al. (2021) Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. Plos One. 16: e0253859 |
| Schenkel LC, Aref-Eshghi E, Rooney K, et al. (2021) DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clinical Epigenetics. 13: 2 |
| Ziats CA, Jain L, McLarney B, et al. (2020) Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature. European Journal of Medical Genetics. 104042 |
| Ziats CA, Grosvenor LP, Sarasua SM, et al. (2019) Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. Plos One. 14: e0213921 |
| Mitz AR, Philyaw TJ, Boccuto L, et al. (2018) Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome. European Journal of Human Genetics : Ejhg |