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Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr A, Dubé MP, Zenteno JC, Jiang H, Asselin G, Evans SC, Caqueret A, Lakosha H, Letourneau L, Marcadier J, Matsuoka M, Macgillivray C, Nightingale M, Papillon-Cavanagh S, Perry S, Provost S, Ludman M, Guernsey DL, Samuels ME. Orr A, et al. Among authors: caqueret a. Mol Vis. 2011;17:1850-61. Epub 2011 Jul 12. Mol Vis. 2011. PMID: 21850159 Free PMC article.
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H; FORGE Canada Consortium; Michaud JL, Samuels ME. Majewski J, et al. Among authors: caqueret a. Hum Mutat. 2011 Oct;32(10):1114-7. doi: 10.1002/humu.21546. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681853
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss.
Seyrantepe V, Lema P, Caqueret A, Dridi L, Bel Hadj S, Carpentier S, Boucher F, Levade T, Carmant L, Gravel RA, Hamel E, Vachon P, Di Cristo G, Michaud JL, Morales CR, Pshezhetsky AV. Seyrantepe V, et al. Among authors: caqueret a. PLoS Genet. 2010 Sep 16;6(9):e1001118. doi: 10.1371/journal.pgen.1001118. PLoS Genet. 2010. PMID: 20862357 Free PMC article.