Sureni Mullegama
Affiliations: | 2013 | Human Genetics | Virginia Commonwealth University School of Medicine, Richmond, VA |
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"Sureni Mullegama"
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| Torti E, Mullegama SV, De Bie I, et al. (2025) De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies. Hgg Advances. 100421 |
| Rowe L, Mullegama SV, Lombardo R, et al. (2025) A proposed role for CDO1 in central nervous system development: Three children with rare missense variants and a neurological phenotype. Hgg Advances. 100417 |
| Booth KTA, Jangam SV, Chui MMC, et al. (2025) De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain : a Journal of Neurology |
| Elkhateeb N, Crookes R, Spiller M, et al. (2024) Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101348 |
| Scala M, Bradley CA, Howe JL, et al. (2024) Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. American Journal of Human Genetics |
| Cali E, Quirin T, Rocca C, et al. (2024) Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 101251 |
| Borroto MC, Patel H, Srivastava S, et al. (2024) Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatric Neurology. 160: 45-53 |
| Scala M, Bradley CA, Howe JL, et al. (2023) Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. Medrxiv : the Preprint Server For Health Sciences |
| Paul MS, Duncan AR, Genetti CA, et al. (2023) Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics. 110: 548 |
| Ramond F, Dalgliesh C, Grimmel M, et al. (2022) Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 100003 |