Abha R. Gupta, Ph.D.

University of Pennsylvania, Philadelphia, PA, United States 
Ocular Gene Therapy
"Abha Gupta"


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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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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
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