Publications by authors named "Patrick Scott"

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Do Human Figure Drawing IQ Scores Match Wechsler IQ Scores? A Reared-Apart Twin Study.
Nancy L Segal, Patrick Scott, Luc Matthews, Elizabeth Pratt-Thompson

J Genet Psychol· April 2025

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Increase in small red worms in Wales.
Patrick Scott

Vet Rec· December 2024

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A candidate loss-of-function variant in SGIP1 causes synaptic dysfunction and recessive parkinsonism.
Marianna Decet, Patrick Scott, Sabine Kuenen, Douja Meftah, Jef Swerts

Cell Rep Med· October 2024

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Short chain fatty acids inhibit corneal inflammatory responses to TLR ligands via the ocular G-protein coupled receptor 43.
Jun Wu, Nu Chen, Elizabeth Grau, Luke Johnson, Yongqing Liu, Patrick A Scott

Ocul Surf· April 2024

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Deciphering a novel complex inversion affecting F8 in a family with severe haemophilia A by optical genome mapping.
Somayyeh Fahiminiya, Spyros Oikonomopoulos, Georges-Etienne Rivard, Mira Gandhi, Patrick Scott

Haemophilia· May 2023

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A full molecular picture of F8 intron 1 inversion created with optical genome mapping.
Somayyeh Fahiminiya, Georges-Etienne Rivard, Patrick Scott, Alexandre Montpetit, François Bacot

Haemophilia· September 2021

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Development and Implementation of an HPV Vaccination Survey for American Indians in Cherokee Nation.
Sameer Vali Gopalani, Amanda E Janitz, Margie Burkhart, Janis E Campbell, Sydney A Martinez, Scott Patrick

Int J Environ Res Public Health· September 2021

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CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function.
Saumil Sethna, Patrick A Scott, Arnaud P J Giese, Todd Duncan, Xiaoying Jian

Nat Commun· June 2021

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SOS! Summer of Smoke: a retrospective cohort study examining the cardiorespiratory impacts of a severe and prolonged wildfire season in Canada's high subarctic.
Courtney Howard, Caren Rose, Warren Dodd, Katherine Kohle, Craig Scott, Patrick Scott

BMJ Open· February 2021

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Yap1 is required for maintenance of adult RPE differentiation.
Qingxian Lu, Patrick A Scott, Eric V Vukmanic, Henry J Kaplan, Douglas C Dean

FASEB J· May 2020

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A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients.
Adila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, Christian Beetz, Patrick Scott

J Hum Genet· January 2020

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Spinocerebellar ataxia with axonal neuropathy type 1 revisited.
Patrick Scott, Adila Al Kindi, Amira Al Fahdi, Naeema Al Yarubi, Zandre Bruwer

J Clin Neurosci· September 2019

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Metabolic Deregulation of the Blood-Outer Retinal Barrier in Retinitis Pigmentosa.
Wei Wang, Ashwini Kini, Yekai Wang, Tingting Liu, Yao Chen, Patrick Scott

Cell Rep· July 2019

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Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
Fathiya Al-Murshedi, Douja Meftah, Patrick Scott

Eur J Med Genet· January 2019

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Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
Zandrè Bruwer, Nihal Al Riyami, Tamima Al Dughaishi, Fathiya Al Murshedi, Abeer Al Sayegh, Patrick Scott

J Perinat Med· November 2018

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Anatomic Studies of the Miniature Swine Cornea.
Sarag Abhari, Michael Eisenback, Henry J Kaplan, Eric Walters, Randall S Prather, Patrick A Scott

Anat Rec (Hoboken)· November 2018

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Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
Nadia Al-Hashmi, Mohammed Mohammed, Salim Al-Kathir, Naeema Al-Yarubi, Patrick Scott

Case Rep Genet· October 2018

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Lived experience of a record wildfire season in the Northwest Territories, Canada.
Warren Dodd, Patrick Scott, Courtney Howard, Craig Scott, Caren Rose

Can J Public Health· June 2018

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Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
Maha Mameesh, Anuradha Ganesh, Beena Harikrishna, Sana Al Zuhaibi, Patrick Scott

Ophthalmic Genet· December 2017

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Segmental Spinal Muscular Atrophy Localised to the Lower Limbs: First case from Oman.
Roshan Koul, Amna Al-Futaisi, Khalid Al-Thihli, Zandre Bruwer, Patrick Scott

Sultan Qaboos Univ Med J· August 2017

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Progression of Pro23His Retinopathy in a Miniature Swine Model of Retinitis Pigmentosa.
Patrick A Scott, Juan P Fernandez de Castro, Paul J DeMarco, Jason W Ross, Josephat Njoka

Transl Vis Sci Technol· March 2017

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Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.
Patrick Scott, Zandre Bruwer, Khalsa Al-Kharusi, Douja Meftah, Fathiya Al-Murshedi

Oman Med J· May 2016

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Two-Step Reactivation of Dormant Cones in Retinitis Pigmentosa.
Wei Wang, Sang Joon Lee, Patrick A Scott, Xiaoqin Lu, Douglas Emery

Cell Rep· April 2016

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Influence of bulky yet flexible N-heterocyclic carbene ligands in gold catalysis.
Alba Collado, Scott R Patrick, Danila Gasperini, Sebastien Meiries, Steven P Nolan

Beilstein J Org Chem· December 2015

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Prenatal Exposure to Curcumin Protects Rod Photoreceptors in a Transgenic Pro23His Swine Model of Retinitis Pigmentosa.
Patrick A Scott, Henry J Kaplan, Maureen A McCall

Transl Vis Sci Technol· September 2015

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