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Emmanuelle Lemyre - Publications

Affiliations: 
Université de Montréal, Montréal, Canada 
Area:
Genetics, Human Development
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51 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Minsart AF, Boucoiran I, Delrue MA, Audibert F, Abadir S, Lapierre C, Lemyre E, Raboisson MJ. Left Superior Vena Cava in the Fetus: A Rarely Isolated Anomaly. Pediatric Cardiology. PMID 31720744 DOI: 10.1007/S00246-019-02246-5  0.389
2019 Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, ... ... Lemyre E, et al. Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice. Journal of Medical Genetics. PMID 31451536 DOI: 10.1136/Jmedgenet-2018-105879  0.385
2019 Jonch AE, Douard E, Dijck AV, Kooy FR, Puechberty J, Campbell C, Salanville D, Lefroy H, Genevieve D, Kini U, Caignec CL, Lespinasse J, Skytte A, Isidor B, Zweier C, ... ... Lemyre E, et al. Characterizing and quantifying the effect of the recurrent copy number variants between BP1-BP2 at chromosome 15q11.2 European Journal of Human Genetics. 26: 363-364. DOI: 10.1038/S41431-018-0247-7  0.389
2018 Verheije R, Kupchik GS, Isidor B, Kroes HY, Lynch SA, Hawkes L, Hempel M, Gelb BD, Ghoumid J, D'Amours G, Chandler K, Dubourg C, Loddo S, Tümer Z, Shaw-Smith C, ... ... Lemyre E, et al. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 30291340 DOI: 10.1038/S41431-018-0281-5  0.434
2018 Mucha BE, Banka S, Ajeawung NF, Molidperee S, Chen GG, Koenig MK, Adejumo RB, Till M, Harbord M, Perrier R, Lemyre E, Boucher RM, Skotko BG, Waxler JL, Thomas MA, et al. A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30245510 DOI: 10.1038/S41436-018-0290-3  0.455
2018 D'Amours G, Lopes F, Gauthier J, Saillour V, Nassif C, Wynn R, Alos N, Leblanc T, Capri Y, Nizard S, Lemyre E, Michaud JL, Pelletier VA, Pastore YD, Soucy JF. Refining the phenotype associated with biallelic DNAJC21 mutations. Clinical Genetics. PMID 29700810 DOI: 10.1111/Cge.13370  0.385
2018 Roussy M, Bilodeau M, Jouan L, Tibout P, Laramée L, Lemyre E, Cardin S, Sauvageau C, Couture F, Choblet A, Patey N, Gendron P, Duval M, Teira P, Hébert J, et al. NUP98-BPTF gene fusion identified in primary refractory acute megakaryoblastic leukemia of infancy. Genes, Chromosomes & Cancer. PMID 29427526 DOI: 10.1002/Gcc.22532  0.314
2017 Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, et al. FRMPD4 Mutations Cause X-linked Intellectual Disability and Disrupt Dendritic Spine Morphogenesis. Human Molecular Genetics. PMID 29267967 DOI: 10.1093/Hmg/Ddx426  0.313
2017 Boissel S, Fallet-Bianco C, Chitayat D, Kremer V, Nassif C, Rypens F, Delrue MA, Dal Soglio D, Oligny LL, Patey N, Flori E, Cloutier M, Dyment D, Campeau P, Karalis A, ... ... Lemyre E, et al. Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29261186 DOI: 10.1097/01.Ogx.0000550387.91867.88  0.395
2017 Beauregard-Lacroix E, Tardif J, Lemyre E, Kibar Z, Faure C, Campeau PM. Genetic Testing in a Cohort of Complex Esophageal Atresia. Molecular Syndromology. 8: 236-243. PMID 28878607 DOI: 10.1159/000477429  0.365
2017 Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, ... ... Lemyre E, et al. Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature Genetics. PMID 28805828 DOI: 10.1038/Ng.3933  0.322
2016 Beauregard-Lacroix E, Tardif J, Camurri MV, Lemyre E, Barchi S, Parent S, Campeau PM. Retrospective Analysis of Congenital Scoliosis: Associated Anomalies and Genetic Diagnoses. Spine. PMID 27879578 DOI: 10.1097/Brs.0000000000001983  0.341
2016 Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, ... ... Lemyre E, et al. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature Genetics. PMID 27841880 DOI: 10.1038/Ng.3720  0.423
2016 Uddin M, Pellecchia G, Thiruvahindrapuram B, D'Abate L, Merico D, Chan A, Zarrei M, Tammimies K, Walker S, Gazzellone MJ, Nalpathamkalam T, Yuen RK, Devriendt K, Mathonnet G, Lemyre E, et al. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay. Scientific Reports. 6: 28663. PMID 27363808 DOI: 10.1038/Srep28663  0.314
2015 Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma. European Journal of Human Genetics : Ejhg. PMID 26130484 DOI: 10.1038/Ejhg.2015.155  0.322
2015 Maftei C, Rypens F, Thiffault I, Dubé J, Laberge AM, Lemyre E. Fibrodysplasia ossificans progressiva: bilateral hallux valgus on ultrasound a clue for the first prenatal diagnosis for this condition-clinical report and review of the literature. Prenatal Diagnosis. 35: 305-7. PMID 25346098 DOI: 10.1002/Pd.4518  0.325
2015 Léveillé F, Nizard S, Mathonnet G, Lemyre E, Tihy F. MG-120 Chorionic villus sampling: 3 cases with discrepancies between ifish, array-cgh and karyotype Journal of Medical Genetics. 52: A8.1-A8. DOI: 10.1136/Jmedgenet-2015-103578.20  0.447
2015 Léveillé F, Mathonnet G, Laframboise R, Lemyre E, Nizard S, Tihy F. MG-122 Cytogenetic characterisation of 3 small supernumerary chromosomal markers in a 1 year-old girl Journal of Medical Genetics. 52: A5.3-A6. DOI: 10.1136/Jmedgenet-2015-103577.14  0.465
2015 Maftei C, Laberge A, Maranda B, Mitchell G, Nizard S, Tihy F, Lemyre E. MG-121 Five new patients with pure distal 1q trisomy, review of the literature and phenotype redefinition Journal of Medical Genetics. 52: A5.2-A5. DOI: 10.1136/Jmedgenet-2015-103577.13  0.388
2014 D'Amours G, Langlois M, Mathonnet G, Fetni R, Nizard S, Srour M, Tihy F, Phillips MS, Michaud JL, Lemyre E. SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay. Bmc Medical Genomics. 7: 70. PMID 25539807 DOI: 10.1186/S12920-014-0070-0  0.353
2014 Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, ... ... Lemyre E, et al. Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. Nature Genetics. 46: 1245-9. PMID 25282101 DOI: 10.1038/Ng.3113  0.343
2014 Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, ... ... Lemyre E, et al. CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems. Journal of Neurodevelopmental Disorders. 6: 9. PMID 24834135 DOI: 10.1186/1866-1955-6-9  0.35
2014 Michaud JL, Lachance M, Hamdan FF, 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. Human Molecular Genetics. 23: 4846-58. PMID 24781210 DOI: 10.1093/Hmg/Ddu199  0.359
2014 Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. European Journal of Human Genetics : Ejhg. 22: 792-800. PMID 24253858 DOI: 10.1038/Ejhg.2013.248  0.415
2014 Baskin B, Choufani S, Chen YA, Shuman C, Parkinson N, Lemyre E, Micheil Innes A, Stavropoulos DJ, Ray PN, Weksberg R. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Human Genetics. 133: 321-30. PMID 24154661 DOI: 10.1007/S00439-013-1379-Z  0.309
2012 Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians. Journal of Medical Genetics. 49: 636-41. PMID 23012439 DOI: 10.1136/Jmedgenet-2012-101132  0.339
2012 D'Amours G, Kibar Z, Mathonnet G, Fetni R, Tihy F, Désilets 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. Clinical Genetics. 81: 128-41. PMID 21496010 DOI: 10.1111/J.1399-0004.2011.01687.X  0.418
2011 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. American Journal of Medical Genetics. Part A. 155: 2705-12. PMID 21964771 DOI: 10.1002/Ajmg.A.34260  0.694
2011 Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, et al. Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation. Bmc Medical Genomics. 4: 25. PMID 21439053 DOI: 10.1186/1755-8794-4-25  0.303
2011 Beaulieu Bergeron M, Lemyre E, Lemieux N. Identification of new susceptibility regions for X;Y translocations in patients with testicular disorder of sex development. Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation. 5: 1-6. PMID 21088380 DOI: 10.1159/000321995  0.452
2009 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, ... ... Lemyre E, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Human Molecular Genetics. 18: 2149-65. PMID 19321599 DOI: 10.1093/Hmg/Ddp148  0.314
2009 Beaulieu Bergeron M, Lemyre E, Rypens F, Scherer G, Lemieux N, Fournet JC. Diagnosis of true hermaphroditism in a fetus with acampomelic campomelic dysplasia. Prenatal Diagnosis. 29: 528-30. PMID 19253311 DOI: 10.1002/Pd.2187  0.66
2009 Levchenko A, Montplaisir JY, Asselin G, Provost S, Girard SL, 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 Disorders : Official Journal of the Movement Disorder Society. 24: 40-50. PMID 18946881 DOI: 10.1002/Mds.22263  0.456
2008 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 European Journal of Human Genetics. 16: 28-35. PMID 17971833 DOI: 10.1038/Sj.Ejhg.5201947  0.397
2007 Lemyre E, Andelfinger G. Catch me if you can: tracking down the genetic origins of congenital heart disease. European Heart Journal. 28: 2701-2. PMID 17965008 DOI: 10.1093/Eurheartj/Ehm479  0.315
2007 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. Journal of Intellectual Disability Research. 51: 401-405. PMID 17391256 DOI: 10.1111/J.1365-2788.2006.00912.X  0.375
2006 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. American Journal of Medical Genetics. Part A. 140: 2768-75. PMID 17103433 DOI: 10.1002/Ajmg.A.31472  0.431
2006 DesGroseilliers 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. Cytogenetic and Genome Research. 115: 90-3. PMID 16974088 DOI: 10.1159/000094805  0.334
2006 DesGroseilliers M, Beaulieu Bergeron M, Brochu P, Lemyre E, Lemieux N. Phenotypic variability in isodicentric Y patients: study of nine cases. Clinical Genetics. 70: 145-50. PMID 16879197 DOI: 10.1111/J.1399-0004.2006.00654.X  0.478
2006 Maranda B, Lemieux N, Lemyre E. Familial deletion 18p syndrome: case report. Bmc Medical Genetics. 7: 60. PMID 16842614 DOI: 10.1186/1471-2350-7-60  0.358
2006 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. American Journal of Medical Genetics. Part A. 140: 1768-72. PMID 16835917 DOI: 10.1002/Ajmg.A.31338  0.7
2005 Kim HG, Herrick SR, Lemyre E, Kishikawa S, Salisz JA, Seminara S, MacDonald ME, Bruns GA, Morton CC, Quade BJ, Gusella JF. Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1. Journal of Medical Genetics. 42: 666-72. PMID 16061567 DOI: 10.1136/Jmg.2004.026989  0.382
2005 Gorincour G, Rypens F, Grignon A, Garel L, Bortoluzzi P, Oligny L, Lemyre E, Duperron L. Prenatal diagnosis of cloverleaf skull: watch the hands! Fetal Diagnosis and Therapy. 20: 296-300. PMID 15980644 DOI: 10.1159/000085089  0.417
2005 Tihy F, Lemieux N, Lemyre E. Complex chromosome rearrangement and recombinant balanced translocation in a mother and a daughter with the same phenotypic abnormalities. American Journal of Medical Genetics. Part A. 135: 317-9. PMID 15887259 DOI: 10.1002/Ajmg.A.30697  0.437
2002 DesGroseilliers M, Lemyre E, Dallaire L, Lemieux N. Tetrasomy Y by structural rearrangement: clinical report. American Journal of Medical Genetics. 111: 401-4. PMID 12210299 DOI: 10.1002/Ajmg.10591  0.5
2001 Lee C, Lemyre E, Miron PM, Morton CC. Multicolor fluorescence in situ hybridization in clinical cytogenetic diagnostics Current Opinion in Pediatrics. 13: 550-555. PMID 11753105 DOI: 10.1097/00008480-200112000-00010  0.342
2001 Lee C, Fowler DJ, Lemyre E, Sandstrom MM, Holmes LB, Morton CC. Prenatal diagnosis and molecular cytogenetics in a case of partial trisomy 14 and monosomy 21. American Journal of Medical Genetics. 100: 246-50. PMID 11343311 DOI: 10.1002/1096-8628(20010501)100:3<246::AID-AJMG1254>3.0.CO;2-N  0.386
2000 Tihy F, Lemyre E, Dallaire L, Lemieux N. Supernumerary chromosome inherited from a maternal balanced translocation leading to pure trisomy 9p. American Journal of Medical Genetics. 91: 383-6. PMID 10767003 DOI: 10.1002/(Sici)1096-8628(20000424)91:5<383::Aid-Ajmg12>3.0.Co;2-G  0.407
1999 Tihy F, Lemyre E, Lemieux N, Dallaire L. De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype. American Journal of Medical Genetics. 87: 302-5. PMID 10588834 DOI: 10.1002/(Sici)1096-8628(19991203)87:4<302::Aid-Ajmg4>3.0.Co;2-D  0.446
1999 Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M. Clinical spectrum of infantile free sialic acid storage disease. American Journal of Medical Genetics. 82: 385-91. PMID 10069709 DOI: 10.1002/(Sici)1096-8628(19990219)82:5<385::Aid-Ajmg6>3.0.Co;2-3  0.36
1998 Lemyre E, Lemieux N, Décarie JC, Lambert M. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. American Journal of Medical Genetics. 77: 162-5. PMID 9605291 DOI: 10.1002/(Sici)1096-8628(19980501)77:2<162::Aid-Ajmg10>3.0.Co;2-L  0.411
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