Stephanie L. Bielas, Ph.D.
Affiliations: | 2007 | Biology | University of California, San Diego, La Jolla, CA |
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"Stephanie Bielas"Mean distance: 26716.5
Parents
Sign in to add mentor| Joseph G. Gleeson | post-doc | 2012 | University of Michigan | |
| (Investigating brain development with forward and reverse genetics.) | ||||
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Publications
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| Werren EA, LaForce GR, Srivastava A, et al. (2024) TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome. Nature Communications. 15: 1640 |
| Pande S, Majethia P, Nair K, et al. (2023) De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India. European Journal of Human Genetics : Ejhg |
| Werren E, LaForce G, Srivast A, et al. (2023) Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome. Research Square |
| Upadhyai P, Amiri EF, Guleria VS, et al. (2020) Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature. Clinical Dysmorphology |
| Lichtig H, Artamonov A, Polevoy H, et al. (2020) Modeling Bainbridge-Ropers Syndrome in Embryos. Frontiers in Physiology. 11: 75 |
| Somashekar PH, Narayanan DL, Jagadeesh S, et al. (2019) Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. American Journal of Medical Genetics. Part A |
| Ziats MN, Ahmad A, Bernat JA, et al. (2019) Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing. Pediatric Research |
| Hebbar M, Shukla A, Nampoothiri S, et al. (2018) Locus and allelic heterogeneity in five families with hereditary spastic paraplegia. Journal of Human Genetics |
| Kanthi A, Hebbar M, Bielas SL, et al. (2018) Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. European Journal of Medical Genetics |
| Srivastava A, Srivastava KR, Hebbar M, et al. (2018) Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency. European Journal of Human Genetics : Ejhg |