Author

Magali Loyer

Observed name: M Loyer

Observed institutions: Johns Hopkins University, Montreal Children's Hospital, McGill University

OpenAlex ID: A5071663263

Mutational analysis and clinical correlation in Leber congenital amaurosis

2000 · Sharola Dharmaraj, Eduardo Silva, et al. · Ophthalmic Genetics · 118

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families

2003 · Robert K Koenekoop, Magali Loyer, et al. · American Journal of Ophthalmology · 77

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p

2001 · Karim F. Damji, Melanie M. Sohocki, et al. · Canadian Journal of Ophthalmology · 49

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

2004 · Chandra L Tucker, Visvanathan Ramamurthy, et al. · PubMed · 42

Mutations participating in interallelic complementation in propionic acidemia.

1994 · R A Gravel, B R Akerman, et al. · PubMed · 42

Repeatedly washed semen stains: Optimal screening and sampling strategies for DNA analysis

2018 · Sarah Noël, Karine Lagacé, et al. · Forensic Science International Genetics · 40

Visual improvement in Leber congenital amaurosis and the CRX genotype

2002 · Robert K. Koenekoop, Magali Loyer, et al. · Ophthalmic Genetics · 35

Correction of the Metabolic Defect in Propionic Acidemia Fibroblasts by Microinjection of a Full-Length cDNA or RNA Transcript Encoding the Propionyl-CoA Carboxylase β Subunit

1994 · Anne-Marie Lamhonwah, Daniel Leclerc, et al. · Genomics · 24

A missense mutation in GUCY2D acts as a genetic modifier in RPE65 -related Leber Congenital Amaurosis

2004 · Eduardo Silva, Sharola Dharmaraj, et al. · Ophthalmic Genetics · 22

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.

1997 · B R Akerman, M R Natowicz, et al. · PubMed · 21

Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs

1995 · Magali Loyer, Daniel Leclerc, et al. · Human Molecular Genetics · 8

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

2004 · Ana Luisa Piña, Uwe Baumert, et al. · PubMed · 5

Pigment epithelium derived factor as a candidate gene for Leber's congenital amaurosis

1996 · J. K. Davidson, J. Tink, et al. · Investigative Ophthalmology & Visual Science · 2

In vivo Functional Analyses of Retinal Function by Multifocal Electroretinography in Unrelated Carriers of XRRP with the Same 2 Basepair Deletion in ORF15 of RPGR (2281_2282 del GG)

2003 · G. Li, Magali Loyer, et al. · Investigative Ophthalmology & Visual Science

Analysis of Developmental Genes in LCA Patients with CRX Mutations and Genotype-Phenotype Correlation

2002 · Sharola Dharmaraj, Stacie L. Bumgarner, et al. · Investigative Ophthalmology & Visual Science

Linkage analysis of autosomal dominant retinitis pigmentosa: Evidence for a novel disease locus

2002 · JG Papaioannou, R. Koenekoop, et al. · DIAL (Catholic University of Leuven)

Evaluation of the gene encoding the α subunit of cone transducin in Leber's congenital amaurosis and other retinal dystrophies

1996 · Magali Loyer, L S Wise, et al. · Investigative Ophthalmology & Visual Science

Interallelic complementation of mutations in propionic acidemia by microinjection of mutant cDNAs into fibroblasts of affected patients

1994 · Magali Loyer, Daniel Leclerc, et al. · The American Journal of Human Genetics

Works count: 18

Citation count: 485

H-index: 10

I10-index: 10