Chercheur

    Emmanuelle Lemyre , M.D.

    emmanuelle.lemyre@recherche-ste-justine.qc.ca
    Emmanuelle Lemyre
    Axe de recherche
    Cerveau et développement de l’enfant
    Thème de recherche
    Maladies neurodéveloppementales
    Adresse
    CHUSJ - Centre de Recherche

    Téléphone
    514 345-4931 #3585

    Fax
    514 345-4766

    Titres

    • Directrice du Laboratoire de cytogénétique prénatale
    • Cytogénéticienne
    • Médecin généticienne, Service de génétique médicale, Département de pédiatrie, CHU Sainte-Justine
    • Professeure adjointe de clinique, Département de pédiatrie, Université de Montréal

    Intérêts de recherche

    Recherches récentes

    • Remaniements subtélomériques dans une population de patients avec retard mental et dysmorphies. Financé par le Réseau de médecine génétique appliquée du Fonds de recherche en santé du Québec (FRSQ), axe de cytogénétique. Coordinatrice du projet pour le CHU Sainte-Justine.
    • Remaniements du chromosome Y. Corrélation génotype-phénotype à l'aide d'une localisation fine des points de cassures par hybridation in situ en fluorescence (FISH) à l'aide de BAC du chromosome Y. Projet financé par le Réseau de médecine génétique appliquée du FRSQ, axe de cytogénétique.
    • Étude comparative de la technique de PRINS et FISH sur noyaux interphasiques d'amniocytes.
    • Création d'un groupe de recherche sur le diagnostic et le dépistage prénatal (GRDDP). Financé par le Réseau mère-enfant du FRSQ.
    • Diagnostic cytogénétique prénatal à partir de cellules foetales en circulation dans le sang maternel.
    • Étude évaluative de dépistage non invasif combiné de la trisomie 21 au premier trimestre. Projet multidisciplinaire au CHU Sainte-Justine

Publications

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes - Tucker T, Zahir F, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra MA, Eydoux P, Langlois S, Hamdan F, Michaud JL, Friedman JM. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. Eur J Hum Genet 2014; (sous presse).

The genetic landscape of infantile spasms - Michaud JL, Lachance M, Hamdan F, Carmant L, Lortie A, Diadori P, Major P, Meijer IA, Lemyre E, Cossette P, Mefford HC, Rouleau GA, Rossignol E. The genetic landscape of infantile spasms. Hum Mol Genet 2014; (sous presse).

Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme] - Bégin P, Chapdelaine H, Lemyre E, Paradis L, Des Roches A. Successful desensitization in a type VI mucopolysaccharidosis patient with probable IgE-mediated allergy to galsulfase [Naglazyme]. Ann Allergy Asthma Immunol 2013; 110(1): 55-66.

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype - D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Desilets V, Nizard S, Michaud JL, Lemyre E. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet 2012; 81(2): 128-141.

Multidisciplinary management of a hepatic and renal transplant patient with Alagille syndrome - Maisonneuve E, Morin F, Crochetière C, Lemyre E, Bigras JL, Leduc L, Girardin C, Bilodeau M. Multidisciplinary management of a hepatic and renal transplant patient with Alagille syndrome. Int J Obstet Anesth 2012; 21(4): 382-383.

Mutations in TMEM231 cause Joubert syndrome in French Canadians - Srour M, Hamdan F, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet 2012; 49(10): 636-641.

Rare copy number variants contribute to congenital left-sided heart disease - Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D'Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen R, Hoodless P, Awadalla P, Hussin J, Idaghdour Y, Nemer M, Stewart A, Boerkoel CF, Scherer SW, Richter A, Dubé MP, Andelfinger G. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 2012; 8(9): e1002903.

Highly penetrant alterations of a critical region including BDNF in human psychopathology and pbesity - Ernst C, Marshall C, Shen Y, Metcalfe K, Rosenberg J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Highly penetrant alterations of a critical region including BDNF in human psychopathology and pbesity. Arch Gen Psychiatry 2012; 69(12): 1238-1246.

Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development - Beaulieu Bergeron M, Lemyre E, Lemieux N. Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development. Sex Dev 2011; 5(1): 1-6.

Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency - De Bie I, Lemyre E, Lambert MA. Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency. Dans: SSIEM (ed.). JIMD Reports - Case and Research Reports, 2011/1. Springer, 2011; 83-88.

Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes - Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Correlation of intercentromeric distance, mosaicism, and sexual phenotype: Molecular localization of breakpoints in isodicentric Y chromosomes. Am J Med Genet A 2011; 155(11): 2705-2712.

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation - Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra MA, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. BMC Med Genomics 2011; 4: 25.

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder - Li SC, Chen C, Goldstein JL, Wu J, Lemyre E, Burrow TA, Kang PB, Chen Y, Bali DS. Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder. J Inherit Metab Dis 2010; doi: 10.1007/s10545-009-9026-5.

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis vs clinical signs - Girardin C, Lemyre E, Alos N, Deal C, Huot C, Van Vliet G. Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis vs clinical signs. Horm Res 2009; 72(2): 98-105.

Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1 - Levchenko A, Montplaisir J, Asselin G, Provost S, Girard S, Xiong L, Lemyre E, St-Onge J, Thibodeau P, Desautels A, Turecki G, Gaspar C, Dubé MP, Rouleau GA. Autosomal-dominant locus for restless legs syndrome in French-Canadians on chromosome 16p12.1. Movement Disord 2009; 24(1): 40-50.

Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia - Beaulieu Bergeron M, Rypens FF, Scherer G, Lemyre E, Lemieux N, Fournet JC. Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. Prenat Diagn 2009; 29(5): 528-530.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization - Friedman JM, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel CF, Chan S, Chai D, Delaney AD, Flibotte S, Gibson W, Langlois S, Lemyre E, Li H, Macleod P, Mathers J, Michaud JL, McGillivray B, Patel M, Qian HS, Rouleau GA, Van Allen M, Young S-L, Zahir F, Eydoux P, Marra D. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization. BMC Genomics 2009; 10: 526 (on line).

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival - Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet 2009; 18(12): 2149-2165.

Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype - Girardin C, Deal C, Lemyre E, Paquette J, Lumbroso R, Beitel LK, Trifiro MA, Van Vliet G. Molecular studies of a patient with complete androgen insensitivity and a 47,XXY karyotype. J Pediatr 2009; 155(3): 439-443.

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project - Higgins A, Alkuraya FS, Bosco AF, Brown KK, Bruns GAP, Donovan DJ, Eisenman R, Fan Y, Farra C, Ferguson H, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project. Am J Hum Genet 2008; 82(3): 712-722.

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta - Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell J, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat 2008; 29(12): 1435-1442.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation - Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet 2008; 16(1): 28-35.

Catch me if you can: tracking down the genetic origins of congenital heart disease - Lemyre E, Andelfinger G. Catch me if you can: tracking down the genetic origins of congenital heart disease . Eur Heart J 2007; 28(22): 2701-2702.

Specific language impairment as the prominent feature in a patient with a low-level trisomy 21 mosaicism - Paoloni-Giacobino A, Lemieux N, Lemyre E, Lespinasse J. Specific language impairment as the prominent feature in a patient with a low-level trisomy 21 mosaicism. J Intell Disabil Res 2007; 51(Pt 5): 401-405.

Craniosynostoses et déformation de la voûte crânienne - Turgeon J, Bortoluzzi P, Mercier C, Lemyre E. Craniosynostoses et déformation de la voûte crânienne. Dans: Turgeon J, Bernard-Bonnin AC, Gervais P, Ovetchkine P, Gauthier M (eds). Dictionnaire de thérapeutique pédiatrique Weber, 2e édition. Boucherville. Gaëtan Morin, 2007; 328-331.

Complex mosaicism in sex reversed SRY+ male twins - Desgroseillers M, Fortin F, Lemyre E, Lemieux N. Complex mosaicism in sex reversed SRY+ male twins. Cytogenet Genome Res 2006; 112(1-2): 176-179.

Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes - Desgroseillers M, Fortin F, Lafrenière AM, Brochu P, Lemyre E, Lemieux N. Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes. Cytogenet Genome Res 2006; 115(1): 90-93.

Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus - Beaulieu Bergeron M, Tran-Thanh D, Fournet JC, Lemyre E, Lemieux N, Bouron-Dal Soglio D. Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. Am J Med Genet A 2006; 140(16): 1768-1772.

Phenotypic variability in isodicentric Y patients: study of nine cases - Desgroseillers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clin Genet 2006; 70(2): 145-150.

Familial deletion 18p syndrome: Case report - Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: Case report. BMC Med Genet 2006; 7(1): 60 .

Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations - Gignac J, Danis K, Tihy F, Lemyre E. Prenatal detection of subtelomeric rearrangements by multi-subtelomere FISH in a cohort of fetuses with major malformations. Am J Med Genet A 2006; 140A(24): 2768-2775 .

Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities - Tihy F, Lemieux N, Lemyre E. Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities. Am J Med Genet A 2005; 135(3): 317-319.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1 - Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GAP, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. J Med Genet 2005; 42(8): 666-672.

Prenatal diagnosis of cloverleaf skull: watch the hands! - Gorincour G, Rypens FF, Grignon A, Garel L, Bortoluzzi P, Oligny LL, Lemyre E, Duperron L. Prenatal diagnosis of cloverleaf skull: watch the hands!. Fetal Diagn Ther 2005; 20(4): 296-300.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome - Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Sklower Brooks S, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina PD, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veita R, De Paepe A, De Baere E. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 2005; 77(2): 205-218.

Population history and its impact on medical genetics in Quebec - Laberge AM, Michaud JL, Richter A, Lemyre E, Lambert MA, Brais B, Mitchell GA. Population history and its impact on medical genetics in Quebec. Clin Genet 2005; 68(4): 287-301.

Human chromosome 7: DNA sequence and biology - Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GAP, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra C, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJT, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Dohner H, Dohner K, Rommens J, Vincent JB, Venter JC, Li PW, Mural RJ, Adams M, Tsui LC. Human chromosome 7: DNA sequence and biology. Science 2003; 300(5620): 767-772.

Tetrasomy Y by structural rearrangement: Clinical report - Desgroseillers M, Lemyre E, Dallaire L, Lemieux N. Tetrasomy Y by structural rearrangement: Clinical report. Am J Med Genet 2002; 111(4): 1-4.

Stable non-Robertsonian dicentric chromosomes: four new cases and a review - Lemyre E, Der Kaloustian VM, Duncan AMV. Stable non-Robertsonian dicentric chromosomes: four new cases and a review. J Med Genet 2001; 38(1): 76-79.

Reply to the letter of the Editor by Wollatt "Partial trisomy 2p and neuroblastoma" - Al-Saffar M, Lemyre E, Koenekoop R, Der Kaloustian VM. Reply to the letter of the Editor by Wollatt "Partial trisomy 2p and neuroblastoma". Am J Med Genet 2001; 102: 305.

Multicolor fluorescence in situ hybridization in clinical diagnostics - Lee C, Lemyre E, Miron PM, Morton CC. Multicolor fluorescence in situ hybridization in clinical diagnostics. Curr Opin Pediatr 2001; 13(6): 550-555.

Integration of cytogenetic landmarks into the draft sequence of the human genome - Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, De Jong PJ, Trask BJ. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 2001; 409(6822): 953-958.

Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21 - Lee C, Fowler DJ, Lemyre E, Sandstrom MMcH, Holmes LB, Morton CC. Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. Am J Med Genet 2001; 100(3): 246-250.

LCL receptor-related protein 5 (LRP5) affects bone accrual and eye development - Gong Y, Slee RB, Fukai N, Rawaldi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Juppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert MA, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steinchen-Gersdor FE, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML, The Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LCL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 2001; 107(4): 513-523.

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