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Louisa Affatigato

Research Profile

Concepts & Ideas

Anatomy

Physiology

Disorders

Phenomena

Polymorphism, Single-Stranded Conformational

Chemicals & Drugs

Procedures

Genes & Molecular Sequences

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Publications

TOP 3
Emily I Schindler; Erik L Nylen; Audrey C Ko; Louisa M Affatigato; Andrew C Heggen; Kai Wang; Val C Sheffield; Edwin M Stone
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
John H Fingert; Robert A Honkanen; Suma Shankar; Louisa M Affatigato; Mary A Ehlinger; Michael D Moore; Lee M Jampol; Val C Sheffield; Edwin M Stone; Wallace L M Alward
Familial cavitary optic disk anomalies: identification of a novel genetic locus.
Izabela Sokal; William Dupps; Michael Grassi; Jeremiah Brown; Louisa M Affatigato; Nirmalya Roychowdhury; Lili Yang; Slawomir Filipek; Krzysztof Palczewski; Edwin M Stone; Wolfgang Baehr
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).

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All Publications

2010: Emily I Schindler; Erik L Nylen; Audrey C Ko; Louisa M Affatigato; Andrew C Heggen; Kai Wang; Val C Sheffield; Edwin M Stone
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Human molecular genetics 2010;19(19):3693-701.
2007: John H Fingert; Robert A Honkanen; Suma Shankar; Louisa M Affatigato; Mary A Ehlinger; Michael D Moore; Lee M Jampol; Val C Sheffield; Edwin M Stone; Wallace L M Alward
Familial cavitary optic disk anomalies: identification of a novel genetic locus.
American journal of ophthalmology 2007;143(5):795-800.
2005: Izabela Sokal; William Dupps; Michael Grassi; Jeremiah Brown; Louisa M Affatigato; Nirmalya Roychowdhury; Lili Yang; Slawomir Filipek; Krzysztof Palczewski; Edwin M Stone; Wolfgang Baehr
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Investigative ophthalmology & visual science 2005;46(4):1124-32.
2003: Wallace L M Alward; Young H Kwon; Kazuhide Kawase; Jamie E Craig; Sohan Singh Hayreh; A Tim Johnson; Cheryl L Khanna; Tetsuya Yamamoto; David A Mackey; Benjamin R Roos; Louisa M Affatigato; Val C Sheffield; Edwin M Stone
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
American journal of ophthalmology 2003;136(5):904-10.
2002: Andrew J Lotery; Todd A Derksen; Stephen R Russell; robert Mullins; Sybille L Sauter; Louisa M Affatigato; Edwin M Stone; Beverly L Davidson
Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.
Human gene therapy 2002;13(6):689-96.
2000: Samuel G Jacobson; Artur Vahe Cideciyan; Alessandro Iannaccone; Richard G Weleber; Gerald A Fishman; Albert M Maguire; Louisa M Affatigato; Jean Bennett; Eric A Pierce; Michael Danciger; Debora B Farber; Edwin M Stone
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(7):1898-908.
2000: Andrew J Lotery; Francis L Munier; Gerald A Fishman; Richard G Weleber; Samuel G Jacobson; Louisa M Affatigato; BE Nichols; Daniel F Schorderet; Val C Sheffield; Edwin M Stone
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(6):1291-6.
1998: Samuel G Jacobson; Artur Vahe Cideciyan; Y Huang; D B Hanna; Carol L Freund-Taylor; Louisa M Affatigato; R E Carr; Donald J Zack; Edwin M Stone; Roderick R McInnes
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Investigative ophthalmology & visual science 1998;39(12):2417-26.
1997: Prabodh K Swain; Shiming Chen; Q L Wang; Louisa M Affatigato; CL Coats; K D Brady; Gerald A Fishman; Samuel G Jacobson; Anand Swaroop; E Stone; Paul Sieving; Donald J Zack
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.
Neuron 1997;19(6):1329-36.