Sureni Mullegama
Affiliations: | 2013 | Human Genetics | Virginia Commonwealth University School of Medicine, Richmond, VA |
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"Sureni Mullegama"
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| 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 |
| Paul MS, Duncan AR, Genetti CA, et al. (2022) Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy. American Journal of Human Genetics |
| Kumble S, Levy AM, Punetha J, et al. (2021) The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder. Human Mutation |
| Marafi D, Fatih JM, Kaiyrzhanov R, et al. (2021) Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. Brain : a Journal of Neurology |
| Srivastava S, Macke EL, Swanson LC, et al. (2021) Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder. Brain Sciences. 11 |
| Mullegama SV, Klein SD, Williams SR, et al. (2021) Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes. Scientific Reports. 11: 11295 |
| Hüffmeier U, Kraus C, Reuter MS, et al. (2021) EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum. Orphanet Journal of Rare Diseases. 16: 136 |
| Chen L, Jensik PJ, Alaimo JT, et al. (2017) Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. Human Mutation |