Concepedia

Magali Loyer

ML

10

Publications

459

Citations

10

H-Index

1994

Active since

Affiliations

Montreal Children's Hospital(Current)

McGill University

Johns Hopkins University

Magali Loyer is an author at Montreal Children's Hospital specializing in medicine, genetics, and molecular diagnostics.

Top concepts

Publications per year

1994–2018

10

Publications

10

Mutational analysis and clinical correlation in Leber congenital amaurosis

Sharola Dharmaraj, Eduardo Silva, Ana Luisa Piña et al. · Ophthalmic Genetics · 2000 · 111 citations

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

Robert K. Koenekoop, Magali Loyer, Collette K. Hand et al. · American Journal of Ophthalmology · 2003 · 74 citations

, , +11

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

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

, , +5

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

Chandra L. Tucker, Visvanathan Ramamurthy, Ana-Luisa Pina et al. · PubMed · 2004 · 44 citations

Mutations participating in interallelic complementation in propionic acidemia.

R A Gravel, Beverly R. Akerman, A.M. Lamhonwah et al. · PubMed · 1994 · 42 citations

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