Abha R. Gupta, Ph.D.
Affiliations: | University of Pennsylvania, Philadelphia, PA, United States |
Area:
Ocular Gene TherapyGoogle:
"Abha Gupta"Parents
Sign in to add mentor| Matthew W. State | grad student | UCSF (Neurotree) | ||
| Jean Bennett | grad student | 2000 | Penn | |
| (Generation of an animal model for macular degeneration.) | ||||
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Publications
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| Cappi C, Oliphant ME, Péter Z, et al. (2019) De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism. Biological Psychiatry |
| Murdoch JD, Gupta AR, Sanders SJ, et al. (2015) No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins. Plos Genetics. 11: e1004852 |
| Ercan-Sencicek AG, Jambi S, Franjic D, et al. (2015) Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans. European Journal of Human Genetics : Ejhg. 23: 165-72 |
| Griesi-Oliveira K, Acab A, Gupta AR, et al. (2014) Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular Psychiatry |
| Dong S, Walker MF, Carriero NJ, et al. (2014) De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder. Cell Reports. 9: 16-23 |
| Gupta AR, Pirruccello M, Cheng F, et al. (2014) Rare deleterious mutations of the gene EFR3A in autism spectrum disorders. Molecular Autism. 5: 31 |
| Willsey AJ, Sanders SJ, Li M, et al. (2013) Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 155: 997-1007 |
| Novarino G, El-Fishawy P, Kayserili H, et al. (2012) Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (New York, N.Y.). 338: 394-7 |
| Sanders SJ, Murtha MT, Gupta AR, et al. (2012) De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature. 485: 237-41 |
| Sanders SJ, Ercan-Sencicek AG, Hus V, et al. (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85 |