Alan J. Mears

Newborn Screening Ontario — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index4.8kcitations74works1.52yr avg
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Research Topics

Retinal Development and Disorders(32), Photoreceptor and optogenetics research(11), Hedgehog Signaling Pathway Studies(10), Photochromic and Fluorescence Chemistry(8), Retinal Diseases and Treatments(7)

Publications74 total

<scp><i>FGF14</i> GAA</scp> Intronic Expansion in Unsolved Adult‐Onset Ataxia in the <scp>Care4Rare</scp> Canada Consortium
Annals of Clinical and Translational Neurology·2025· 3 citedOpen Access
Next generation sequencing reveals novel compound heterozygous deletions in <i>NDUFAF2</i> in a child with mitochondrial complex I deficiency, nuclear type 10
American Journal of Medical Genetics Part A·2024Open Access
A splice site and copy number variant responsible for TTC25-related primary ciliary dyskinesia
European Journal of Medical Genetics·2021· 9 cited
Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles
Nature Communications·2020· 27 citedOpen Access
Validation and in-field testing of a new on-site qPCR system for quantification of <i>Legionella pneumophila</i> according to ISO/TS 12869:2012 in HVAC cooling towers
Journal of Water and Health·2019· 21 citedOpen Access
Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies
Human Molecular Genetics·2018· 12 citedOpen Access
Mining the transcriptome for rare disease therapies: a comparison of the efficiencies of two data mining approaches and a targeted cell-based drug screen
npj Genomic Medicine·2017· 15 citedOpen Access
Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation
eLife·2016· 30 citedOpen Access
Author response: Norrin/Frizzled4 signalling in the preneoplastic niche blocks medulloblastoma initiation
2016Open Access
Correction: Corrigendum: Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line
Scientific Reports·2016· 475 citedOpen Access
Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line
Scientific Reports·2016· 46 citedOpen Access
A Notch-Gli2 axis sustains Hedgehog responsiveness of neural progenitors and Müller glia
Developmental Biology·2016· 33 cited
A novel mutation in two Hmong families broadens the range of <i>STRA6</i>‐related malformations to include contractures and camptodactyly
American Journal of Medical Genetics Part A·2015· 20 cited
Loss of periostin/OSF-2 in ErbB2/Neu-driven tumors results in androgen receptor-positive molecular apocrine-like tumors with reduced Notch1 activity
PMC·2015
Loss of periostin/OSF-2 in ErbB2/Neu-driven tumors results in androgen receptor-positive molecular apocrine-like tumors with reduced Notch1 activity
Breast Cancer Research·2015· 17 citedOpen Access
Identification of novel retinoic acid target genes
Developmental Biology·2014· 28 cited
Snf2h-mediated chromatin organization and histone H1 dynamics govern cerebellar morphogenesis and neural maturation
Nature Communications·2014· 84 citedOpen Access
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Journal of Medical Genetics·2014· 84 cited
Combinatorial Hedgehog and Mitogen Signaling Promotes the In Vitro Expansion but Not Retinal Differentiation Potential of Retinal Progenitor Cells
Investigative Ophthalmology & Visual Science·2013· 19 cited
Coordinated epigenetic regulation of Engrailed-1 by the chromatin remodelers Smarca1 and Smarca5 mediates cerebellar morphogenesis
Epigenetics & Chromatin·2013· 3 citedOpen Access
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Frequent Co-authors

Anand Swaroop(20), Valerie A. Wallace(9), Paul A. Sieving(6), Keqin Yan(4), Farideh Mirzayans(4), Michael A. Walter(4), Alfred O. Hero(4), Beverly M. Yashar(4), Suja Hiriyanna(4), Samuel G. Jacobson(4), Chantal Mazerolle(4), Heather E. McDermid(4), Erin A. Bassett(4), David J. Picketts(4), Randy Ringuette(4), Sheila Smiley(3), Sherry Thurig(3), Yves De Repentigny(3), Rashmi Kothary(3), W G Pearce(3)