RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Elliott, A.M. and du Souich, C. and Lehman, A. and Guella, I. and Evans, D.M. and Candido, T. and Tooman, L. and Armstrong, L. and Clarke, L. and Gibson, W. and Gill, H. and Lavoie, P.M. and Lewis, S. and McKinnon, M.L. and Nikkel, S.M. and Patel, M. and Solimano, A. and Synnes, A. and Ting, J. and van Allen, M. and Christilaw, J. and Farrer, M.J. and Friedman, J.M. and Osiovich, H.
DOI: 10.1007/s00431-019-03399-4
2019

A review of skeletal dysplasias for the pediatric endocrinologist
Encyclopedia of Endocrine Diseases
Nikkel, S.M. and Ward, L.
DOI: 10.1016/B978-0-12-801238-3.66189-5
2018

A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature
European Journal of Medical Genetics
Bourque, D.K. and Hartley, T. and Nikkel, S.M. and Pohl, D. and Tétreault, M. and Kernohan, K.D. and Dyment, D.A.
DOI: 10.1016/j.ejmg.2017.10.011
2018

Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
American Journal of Medical Genetics, Part A
Kernohan, K.D. and Hartley, T. and Naumenko, S. and Armour, C.M. and Graham, G.E. and Nikkel, S.M. and Lines, M. and Geraghty, M.T. and Richer, J. and Mears, W. and Boycott, K.M. and Dyment, D.A.
DOI: 10.1002/ajmg.a.38838
2018

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Balci, T.B. and Davila, J. and Lewis, D. and Boafo, A. and Sell, E. and Richer, J. and Nikkel, S.M. and Armour, C.M. and Tomiak, E. and Lines, M.A. and Sawyer, S.L.
DOI: 10.1002/ajmg.b.32610
2018

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
American Journal of Medical Genetics, Part A
Malam, F. and Hartley, T. and Gillespie, M.K. and Armour, C.M. and Bariciak, E. and Graham, G.E. and Nikkel, S.M. and Richer, J. and Sawyer, S.L. and Boycott, K.M. and Dyment, D.A.
DOI: 10.1002/ajmg.a.38250
2017

Unpacking the Heterogeneity of Cognitive Functioning in Children and Adolescents with Fetal Alcohol Spectrum Disorder: Determining the Role of Moderators and Strengths
Advances in Neurodevelopmental Disorders
McLachlan, K. and Paolozza, A. and Kully-Martens, K. and Portales-Casamar, E. and Pavlidis, P. and Andrew, G. and Hanlon-Dearman, A. and Loock, C. and McFarlane, A. and Nikkel, S.M. and Pei, J. and Oberlander, T.F. and Samdup, D. and Reynolds, J.N. and Rasmussen, C.
DOI: 10.1007/s41252-017-0034-4
2017

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know
Current Osteoporosis Reports
Nikkel, S.M.
DOI: 10.1007/s11914-017-0392-x
2017

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1
Journal of Human Genetics
Bhola, P.T. and Hartley, T. and Bareke, E. and Boycott, K.M. and Nikkel, S.M. and Dyment, D.A.
DOI: 10.1038/jhg.2017.18
2017

Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery
Child's Nervous System
Valdez Quintana, M. and Michaud, J. and El-Chaar, D. and El Demellawy, D. and Nikkel, S.M. and Miller, E.
DOI: 10.1007/s00381-016-3054-x
2016

Relationships between head circumference, brain volume and cognition in children with prenatal alcohol exposure
PLoS ONE
Treit, S. and Zhou, D. and Chudley, A.E. and Andrew, G. and Rasmussen, C. and Nikkel, S.M. and Samdup, D. and Hanlon-Dearman, A. and Loock, C. and Beaulieu, C.
DOI: 10.1371/journal.pone.0150370
2016

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
Clinical Genetics
Sawyer, S.L. and Hartley, T. and Dyment, D.A. and Beaulieu, C.L. and Schwartzentruber, J. and Smith, A. and Bedford, H.M. and Bernard, G. and Bernier, F.P. and Brais, B. and Bulman, D.E. and Warman Chardon, J. and Chitayat, D. and Deladoëy, J. and Fernandez, B.A. and Frosk, P. and Geraghty, M.T. and Gerull, B. and Gibson, W. and Gow, R.M. and Graham, G.E. and Green, J.S. and Heon, E. and Horvath, G. and Innes, A.M. and Jabado, N. and Kim, R.H. and Koenekoop, R.K. and Khan, A. and Lehmann, O.J. and Mendoza-Londono, R. and Michaud, J.L. and Nikkel, S.M. and Penney, L.S. and Polychronakos, C. and Richer, J. and Rouleau, G.A. and Samuels, M.E. and Siu, V.M. and Suchowersky, O. and Tarnopolsky, M.A. and Yoon, G. and Zahir, F.R. and Majewski, J. and Boycott, K.M.
DOI: 10.1111/cge.12654
2016

The defining DNA methylation signature of Floating-Harbor Syndrome
Scientific Reports
Hood, R.L. and Schenkel, L.C. and Nikkel, S.M. and Ainsworth, P.J. and Pare, G. and Boycott, K.M. and Bulman, D.E. and Sadikovic, B.
DOI: 10.1038/srep38803
2016

Next-generation sequencing for diagnosis of Rare diseases in the neonatal intensive care unit
CMAJ
Daoud, H. and Luco, S.M. and Li, R. and Bareke, E. and Beaulieu, C. and Jarinova, O. and Carson, N. and Nikkel, S.M. and Graham, G.E. and Richer, J. and Armour, C. and Bulman, D.E. and Chakraborty, P. and Geraghty, M. and Lines, M.A. and Lacaze-Masmonteil, T. and Majewski, J. and Boycott, K.M. and Dyment, D.A.
DOI: 10.1503/cmaj.150823
2016

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
European Journal of Human Genetics
Smith, A. and Bulman, D.E. and Goldsmith, C. and Bareke, E. and Majewski, J. and Boycott, K.M. and Nikkel, S.M.
DOI: 10.1038/ejhg.2014.236
2015

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
European Journal of Human Genetics
Racacho, L. and Byrnes, A.M. and MacDonald, H. and Dranse, H.J. and Nikkel, S.M. and Allanson, J. and Rosser, E. and Underhill, T.M. and Bulman, D.E.
DOI: 10.1038/ejhg.2015.38
2015

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes
Human Molecular Genetics
Lionel, A.C. and Tammimies, K. and Vaags, A.K. and Rosenfeld, J.A. and Ahn, J.W. and Merico, D. and Noor, A. and Runke, C.K. and Pillalamarri, V.K. and Carter, M.T. and Gazzellone, M.J. and Thiruvahindrapuram, B. and Fagerberg, C. and Laulund, L.W. and Pellecchia, G. and Lamoureux, S. and Deshpande, C. and Clayton-Smith, J. and White, A.C. and Leather, S. and Trounce, J. and Bedford, H.M. and Hatchwell, E. and Eis, P.S. and Yuen, R.K.C. and Walker, S. and Uddin, M. and Geraghty, M.T. and Nikkel, S.M. and Tomiak, E.M. and Fernandez, B.A. and Soreni, N. and Crosbie, J. and Arnold, P.D. and Schachar, R.J. and Roberts, W. and Paterson, A.D. and So, J. and Szatmari, P. and Chrysler, C. and Woodbury-Smith, M. and Lowry, R.B. and Zwaigenbaum, L. and Mandyam, D. and Wei, J. and MacDonald, J.R. and Howe, J.L. and Nalpathamkalam, T. and Wang, Z. and Tolson, D. and Cobb, D.S. and Wilks, T.M. and Sorensen, M.J. and Bader, P.I. and An, Y. and Wu, B.-L. and Musumeci, S.A. and Romano, C. and Postorivo, D. and Nardone, A.M. and Monica, M.D. and Scarano, G. and Zoccante, L. and Novara, F. and Zuffardi, O. and Ciccone, R. and Antona, V. and Carella, M. and Zelante, L. and Cavalli, P. and Poggiani, C. and Cavallari, U. and Argiropoulos, B. and Chernos, J. and Brasch-Andersen, C. and Speevak, M. and Fichera, M. and Ogilvie, C.M. and Shen, Y. and Hodge, J.C. and Talkowski, M.E. and Stavropoulos, D.J. and Marshall, C.R. and Scherer, S.W.
DOI: 10.1093/hmg/ddt669
2014

Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure
Behavioural Brain Research
Paolozza, A. and Rasmussen, C. and Pei, J. and Hanlon-Dearman, A. and Nikkel, S.M. and Andrew, G. and McFarlane, A. and Samdup, D. and Reynolds, J.N.
DOI: 10.1016/j.bbr.2013.10.040
2014

Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder
Behavioural Brain Research
Paolozza, A. and Rasmussen, C. and Pei, J. and Hanlon-Dearman, A. and Nikkel, S.M. and Andrew, G. and McFarlane, A. and Samdup, D. and Reynolds, J.N.
DOI: 10.1016/j.bbr.2014.01.024
2014

Five things to know about ¿: Noninvasive prenatal testing from cell-free DNA
CMAJ
Armour, C.M. and Nikkel, S.M.
DOI: 10.1503/cmaj.131551
2014

Whole-exome sequencing expands the phenotype of Hunter syndrome
Clinical Genetics
Nikkel, S.M. and Huang, L. and Lachman, R. and Beaulieu, C.L. and Schwartzentruber, J. and Majewski, J. and Geraghty, M.T. and Boycott, K.M. and Majewski, J. and Geraghty, M.T. and Boycott, K.M.
DOI: 10.1111/cge.12236
2014

Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His
Clinical Genetics
Nikkel, S.M. and Ahmed, A. and Smith, A. and Marcadier, J. and Bulman, D.E. and Boycott, K.M.
DOI: 10.1111/cge.12290
2014

Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients
Human Mutation
Santen, G.W.E. and Aten, E. and Vulto-van Silfhout, A.T. and Pottinger, C. and van Bon, B.W.M. and van Minderhout, I.J.H.M. and Snowdowne, R. and van der Lans, C.A.C. and Boogaard, M. and Linssen, M.M.L. and Vijfhuizen, L. and van der Wielen, M.J.R. and Vollebregt, M.J.E. and Breuning, M.H. and Kriek, M. and van Haeringen, A. and den Dunnen, J.T. and Hoischen, A. and Clayton-Smith, J. and de Vries, B.B.A. and Hennekam, R.C.M. and van Belzen, M.J. and Almureikhi, M. and Baban, A. and Barbosa, M. and Ben-Omran, T. and Berry, K. and Bigoni, S. and Boute, O. and Brueton, L. and van der Burgt, I. and Canham, N. and Chandler, K.E. and Chrzanowska, K. and Collins, A.L. and de Toni, T. and Dean, J. and den Hollander, N.S. and Flore, L.A. and Fryer, A. and Gardham, A. and Graham, J.M. and Harrison, V. and Horn, D. and Jongmans, M.C. and Josifova, D. and Kant, S.G. and Kapoor, S. and Kingston, H. and Kini, U. and Kleefstra, T. and Malgorzata Krajewska-Walasek and Kramer, N. and Maas, S.M. and Maciel, P. and Grazia M.S. Mancini and Maystadt, I. and McKee, S. and Milunsky, J.M. and Nampoothiri, S. and Newbury-Ecob, R. and Nikkel, S.M. and Parker, M.J. and Pérez-Jurado, L.A. and Robertson, S.P. and Rooryck, C. and Shears, D. and Silengo, M. and Singh, A. and Smigiel, R. and Soares, G. and Splitt, M. and Stewart, H. and Sweeney, E. and Tassabehji, M. and Temple, I.K. and Tuysuz, B. and van Eerde, A.M. and Vincent-Delorme, C. and Wilson, L.C. and Yesil, G.
DOI: 10.1002/humu.22394
2013

The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Orphanet Journal of Rare Diseases
Nikkel, S.M. and Dauber, A. and De Munnik, S. and Connolly, M. and Hood, R.L. and Caluseriu, O. and Hurst, J. and Kini, U. and Nowaczyk, M.J.M. and Afenjar, A. and Albrecht, B. and Allanson, J.E. and Balestri, P. and Ben-Omran, T. and Brancati, F. and Cordeiro, I. and Da Cunha, B.S. and Delaney, L.A. and Destrée, A. and Fitzpatrick, D. and Forzano, F. and Ghali, N. and Gillies, G. and Harwood, K. and Hendriks, Y.M.C. and Héron, D. and Hoischen, A. and Honey, E.M. and Hoefsloot, L.H. and Ibrahim, J. and Jacob, C.M. and Kant, S.G. and Kim, C.A. and Kirk, E.P. and Knoers, N.V.A.M. and Lacombe, D. and Lee, C. and Lo, I.F.M. and Lucas, L.S. and Mari, F. and Mericq, V. and Moilanen, J.S. and M?ller, S.T. and Moortgat, S. and Pilz, D.T. and Pope, K. and Price, S. and Renieri, A. and Sá, J. and Schoots, J. and Silveira, E.L. and Simon, M.E.H. and Slavotinek, A. and Temple, I.K. and Van Der Burgt, I. and De Vries, B.B.A. and Weisfeld-Adams, J.D. and Whiteford, M.L. and Wierczorek, D. and Wit, J.M. and Yee, C.F.O. and Beaulieu, C.L. and White, S.M. and Bulman, D.E. and Bongers, E. and Brunner, H. and Feingold, M. and Boycott, K.M.
DOI: 10.1186/1750-1172-8-63
2013

Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis
Human Mutation
Lynch, D.C. and Dyment, D.A. and Huang, L. and Nikkel, S.M. and Lacombe, D. and Campeau, P.M. and Lee, B. and Bacino, C.A. and Michaud, J.L. and Bernier, F.P. and Parboosingh, J.S. and Innes, A.M.
DOI: 10.1002/humu.22222
2013

Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy
Clinical Genetics
Roberts, J.D. and Herkert, J.C. and Rutberg, J. and Nikkel, S.M. and Wiesfeld, A.C.P. and Dooijes, D. and Gow, R.M. and van Tintelen, J.P. and Gollob, M.H.
DOI: 10.1111/j.1399-0004.2012.01950.x
2013

Hippocampal hypoplasia in smith-lemli-opitz syndrome
Pediatric and Developmental Pathology
Grynspan, D. and Michaud, J. and Nikkel, S.M. and Creede, E. and Staines, W.A.
DOI: 10.2350/12-09-1252-LET.1
2013

Erratum to Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis [Human Mutation, 34, 1 (97-102)] DOI 10.1002/humu.22222]
Human Mutation
Lynch, D.C. and Dyment, D.A. and Huang, L. and Nikkel, S.M. and Lacombe, D. and Campeau, P.M. and Lee, B. and Bacino, C.A. and Michaud, J.L. and Bernier, F.P. and Consortium, F.C. and Parboosingh, J.S. and Innes, A.M.
DOI: 10.1002/humu.22290
2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
American Journal of Human Genetics
Hood, R.L. and Lines, M.A. and Nikkel, S.M. and Schwartzentruber, J. and Beaulieu, C. and Nowaczyk, M.J.M. and Allanson, J. and Kim, C.A. and Wieczorek, D. and Moilanen, J.S. and Lacombe, D. and Gillessen-Kaesbach, G. and Whiteford, M.L. and Quaio, C.R.D.C. and Gomy, I. and Bertola, D.R. and Albrecht, B. and Platzer, K. and McGillivray, G. and Zou, R. and McLeod, D.R. and Chudley, A.E. and Chodirker, B.N. and Marcadier, J. and Majewski, J. and Bulman, D.E. and White, S.M. and Boycott, K.M.
DOI: 10.1016/j.ajhg.2011.12.001
2012

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Journal of Medical Genetics
Solomon, B.D. and Bear, K.A. and Wyllie, A. and Keaton, A.A. and Dubourg, C. and David, V. and Mercier, S. and Odent, S. and Hehr, U. and Paulussen, A. and Clegg, N.J. and Delgado, M.R. and Bale, S.J. and Lacbawan, F. and Ardinger, H.H. and Aylsworth, A.S. and Bhengu, N.L. and Braddock, S. and Brookhyser, K. and Burton, B. and Gaspar, H. and Grix, A. and Horovitz, D. and Kanetzke, E. and Kayserili, H. and Lev, D. and Nikkel, S.M. and Norton, M. and Roberts, R. and Saal, H. and Schaefer, G.B. and Schneider, A. and Smith, E.K. and Sowry, E. and Spence, M.A and Shalev, S.A. and Steiner, C.E. and Thompson, E.M. and Winder, T.L. and Balog, J.Z. and Hadley, D.W. and Zhou, N. and Pineda-Alvarez, D.E. and Roessler, E. and Muenke, M.
DOI: 10.1136/jmedgenet-2012-101008
2012

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Nature Genetics
Rivière, J.-B. and Mirzaa, G.M. and O'Roak, B.J. and Beddaoui, M. and Alcantara, D. and Conway, R.L. and St-Onge, J. and Schwartzentruber, J.A. and Gripp, K.W. and Nikkel, S.M. and Worthylake, T. and Sullivan, C.T. and Ward, T.R. and Butler, H.E. and Kramer, N.A. and Albrecht, B. and Armour, C.M. and Armstrong, L. and Caluseriu, O. and Cytrynbaum, C. and Drolet, B.A. and Innes, A.M. and Lauzon, J.L. and Lin, A.E. and Mancini, G.M.S. and Meschino, W.S. and Reggin, J.D. and Saggar, A.K. and Lerman-Sagie, T. and Uyanik, G.K. and Weksberg, R. and Zirn, B. and Beaulieu, C.L. and Majewski, J. and Bulman, D.E. and O'Driscoll, M. and Shendure, J. and Graham, J.M. and Boycott, K.M. and Dobyns, W.B.
DOI: 10.1038/ng.2331
2012

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Clinical Genetics
Carter, M. and Nikkel, S. and Fernandez, B. and Marshall, C. and Noor, A. and Lionel, A. and Prasad, A. and Pinto, D. and Joseph-George, A. and Noakes, C. and Fairbrother-Davies, C. and Roberts, W. and Vincent, J. and Weksberg, R. and Scherer, S.
DOI: 10.1111/j.1399-0004.2010.01578.x
2011

Mutations in GDF5 presenting as semidominant brachydactyly A1
Human Mutation
Byrnes, A.M. and Racacho, L. and Nikkel, S.M. and Xiao, F. and Macdonald, H. and Underhill, T.M. and Bulman, D.E.
DOI: 10.1002/humu.21338
2010

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia (DOI:10.1016/j.ajhg.2009.06.014)
American Journal of Human Genetics
Lausch, E. and Keppler, R. and Hilbert, K. and Cormier-Daire, V. and Nikkel, S. and Nishimura, G. and Unger, S. and Spranger, J. and Superti-Furga, A. and Zabel, B.
DOI: 10.1016/j.ajhg.2009.08.012
2009

Oculomotor control in children with fetal alcohol spectrum disorders assessed using a mobile eye-tracking laboratory
European Journal of Neuroscience
Green, C.R. and Mihic, A.M. and Brien, D.C. and Armstrong, I.T. and Nikkel, S.M. and Stade, B.C. and Rasmussen, C. and Munoz, D.P. and Reynolds, J.N.
DOI: 10.1111/j.1460-9568.2009.06668.x
2009

Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
American Journal of Human Genetics
Lausch, E. and Keppler, R. and Hilbert, K. and Cormier-Daire, V. and Nikkel, S. and Nishimura, G. and Unger, S. and Spranger, J. and Superti-Furga, A. and Zabel, B.
DOI: 10.1016/j.ajhg.2009.06.014
2009

Executive function deficits in children with fetal alcohol spectrum disorders (FASD) measured using the Cambridge Neuropsychological Tests Automated Battery (CANTAB)
Journal of Child Psychology and Psychiatry and Allied Disciplines
Green, C.R. and Mihic, A.M. and Nikkel, S.M. and Stade, B.C. and Rasmussen, C. and Munoz, D.P. and Reynolds, J.N.
DOI: 10.1111/j.1469-7610.2008.01990.x
2009

Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
European Journal of Human Genetics
Byrnes, A.M. and Racacho, L. and Grimsey, A. and Hudgins, L. and Kwan, A.C. and Sangalli, M. and Kidd, A. and Yaron, Y. and Lau, Y.-L. and Nikkel, S.M. and Bulman, D.E.
DOI: 10.1038/ejhg.2009.18
2009

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Ford, J.C. and Chitayat, D. and Désilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Shugar, A. and Skidmore, D. and Allen, V.M. and Audibert, F. and Blight, C. and Gagnon, A. and Johnson, J.-A. and Douglas Wilson, R. and Wyatt, P.
DOI: 10.1016/S1701-2163(16)32975-9
2008

TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
Lausch, E. and Hermanns, P. and Farin, H.F. and Alanay, Y. and Unger, S. and Nikkel, S. and Steinwender, C. and Scherer, G. and Spranger, J. and Zabel, B. and Kispert, A. and Superti-Furga, A.
DOI: 10.1016/j.ajhg.2008.10.011
2008

Fragile X testing in obstetrics and gynecology in Canada,Dépistage du X fragile en obstétrique-gynécologie au Canada
Journal of Obstetrics and Gynaecology Canada
Chitayat, D. and Wyatt, P.R. and Douglas Wilson, R. and Johnson, J.-A. and Audibert, F. and Allen, V. and Gagnon, A. and Langlois, S. and Blight, C. and Brock, J.-A. and Désilets, V. and Désilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A.
DOI: 10.1016/S1701-2163(16)32950-4
2008

Fragile X Testing in Obstetrics and Gynaecology in Canada
Journal of Obstetrics and Gynaecology Canada
Chitayat, D. and Wyatt, P.R. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V. and Gagnon, A. and Langlois, S. and Blight, C. and Brock, J.-A. and Désilets, V. and Désilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A.
DOI: 10.1016/S1701-2163(16)32949-8
2008

Carrier screening for thalassemia and hemoglobinopathies in Canada,Dépistage des porteurs de thalassémie et d'hémoglobinopathies au Canada
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Ford, J.C. and Chitayat, D. and Désilets, V.A. and Farrell, S.A. and Geraghty, M. and Nelson, T. and Nikkel, S.M. and Skidmore, D. and Shugar, A. and Wilson, R.D. and Johnson, J.-A. and Audibert, F. and Allen, V.M. and Gagnon, A. and Wyatt, P.R. and Blight, C.
DOI: 10.1016/S1701-2163(16)32976-0
2008

Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
JAMA
Kaurah, P. and MacMillan, A. and Boyd, N. and Senz, J. and De Luca, A. and Chun, N. and Suriano, G. and Zaor, S. and Van Manen, L. and Gilpin, C. and Nikkel, S. and Connolly-Wilson, M. and Weissman, S. and Rubinstein, W.S. and Sebold, C. and Greenstein, R. and Stroop, J. and Yim, D. and Panzini, B. and McKinnon, W. and Greenblatt, M. and Wirtzfeld, D. and Fontaine, D. and Coit, D. and Yoon, S. and Chung, D. and Lauwers, G. and Pizzuti, A. and Vaccaro, C. and Redal, M.A. and Oliveira, C. and Tischkowitz, M. and Olschwang, S. and Gallinger, S. and Lynch, H. and Green, J. and Ford, J. and Pharoah, P. and Fernandez, B. and Huntsman, D.
DOI: 10.1001/jama.297.21.2360
2007

Mid-trimester amniocentesis fetal loss rate,Taux de perte foetale associée à l'amniocentèse menée au cours du deuxième trimestre
Journal of Obstetrics and Gynaecology Canada
Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Désilets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.
DOI: 10.1016/S1701-2163(16)32502-6
2007

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
Human Genetics
Jackson, E.M. and Shaikh, T.H. and Gururangan, S. and Jones, M.C. and Malkin, D. and Nikkel, S.M. and Zuppan, C.W. and Wainwright, L.M. and Zhang, F. and Biegel, J.A.
DOI: 10.1007/s00439-007-0386-3
2007

Erratum: A century later Farabee has his mutation (Human Genetics (2007) vol. 117 (285-287) 10.007/s00439-005-1289-9)
Human Genetics
McCready, M.E. and Grimsey, A. and Styer, T. and Nikkel, S.M. and Bulman, D.E.
DOI: 10.1007/s00439-006-0265-3
2007

Prenatal Screening for Fetal Aneuploidy
Journal of Obstetrics and Gynaecology Canada
Summers, A.M. and Langlois, S. and Wyatt, P. and Douglas Wilson, R. and Douglas Wilson, R. and Allen, V. and Blight, C. and Desilets, V. and Gagnon, A. and Johnson, J.-A. and Chitayat, D. and Chudley, A.E. and Farrell, S.A. and Geraghty, M.T. and Li, C. and Nikkel, S.M. and Shugar, A. and Summers, A. and Tihy, F. and Morin, L. and Van den Hof, M. and Bly, S. and Gagnon, R. and Lewthwaite, B. and Cargill, Y.M. and Ian Lim, K. and Ouellet, A.
DOI: 10.1016/S1701-2163(16)32379-9
2007

Mid-Trimester Amniocentesis Fetal Loss Rate
Journal of Obstetrics and Gynaecology Canada
Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Desilets, V. and Audibert, F. and Gagnon, A. and Wyatt, P. and Allen, V. and Blight, C. and Chitayat, D. and Farrell, S.A. and Nelson, T. and Nikkel, S.M. and Skidmore, D.
DOI: 10.1016/S1701-2163(16)32501-4
2007

Deficits in eye movement control in children with fetal alcohol spectrum disorders
Alcoholism: Clinical and Experimental Research
Green, C.R. and Munoz, D.P. and Nikkel, S.M. and Reynolds, J.N.
DOI: 10.1111/j.1530-0277.2006.00335.x
2007

Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Wilson, D. and Wilson, R.D. and Allen, V.M. and Blight, C. and Désilets, V.A. and Gagnon, A. and Reid, G.J. and Summers, A. and Wyatt, P. and Chitayat, D. and Chudley, A.E. and Farrell, S. and Geraghty, M.T. and Li, C. and Nikkel, S.M. and Tihy, F.
DOI: 10.1016/S1701-2163(16)32131-4
2006

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent,Dépistage des porteurs de troubles génétiques chez les personnes d'origine juive ahkénaze
Journal of Obstetrics and Gynaecology Canada
Langlois, S. and Wilson, D. and Allen, V.M. and Blight, C. and Désilets, V.A. and Gagnon, A. and Reid, G.J. and Summers, A. and Wyatt, P. and Chitayat, D. and Chudley, A.E. and Farrell, S. and Geraghty, M.T. and Li, C. and Nikkel, S.M. and Tihy, F.
DOI: 10.1016/S1701-2163(16)32132-6
2006

A century later Farabee has his mutation
Human Genetics
McCready, M.E. and Grimsey, A. and Styer, T. and Nikkel, S.M. and Bulman, D.E.
DOI: 10.1007/s00439-005-1289-9
2005

Further delineation of Kabuki syndrome in 48 well-defined new individuals
American Journal of Medical Genetics
Armstrong, L. and El Moneim, A.A. and Aleck, K. and Aughton, D.J. and Baumann, C. and Braddock, S.R. and Gillessen-Kaesbach, G. and Graham Jr., J.M. and Grebe, T.A. and Gripp, K.W. and Hall, B.D. and Hennekam, R. and Hunter, A. and Keppler-Noreuil, K. and Lacombe, D. and Lin, A.E. and Ming, J.E. and Kokitsu-Nakata, N.M. and Nikkel, S.M. and Philip, N. and Raas-Rothschild, A. and Sommer, A. and Verloes, A. and Walter, C. and Wieczorek, D. and Williams, M.S. and Zackai, E. and Allanson, J.E.
DOI: 10.1002/ajmg.a.30340
2005

Germline E-cadherin mutations in hereditary diffuse gastric cancer: Assessment of 42 new families and review of genetic screening criteria
Journal of Medical Genetics
Brooks-Wilson, A.R. and Kaurah, P. and Suriano, G. and Leach, S. and Senz, J. and Grehan, N. and Butterfield, Y.S.N. and Jeyes, J. and Schinas, J. and Bacani, J. and Kelsey, M. and Ferreira, P. and MacGillivray, B. and MacLeod, P. and Micek, M. and Ford, J. and Foulkes, W. and Australie, K. and Greenberg, C. and LaPointe, M. and Gilpin, C. and Nikkel, S. and Gilchrist, D. and Hughes, R. and Jackson, C.E. and Monaghan, K.G. and Oliveira, M.J. and Seruca, R. and Gallinger, S. and Caldas, C. and Huntsman, D.
DOI: 10.1136/jmg.2004.018275
2004

Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
American Journal of Medical Genetics
Verloes, A. and Bitoun, P. and Heuskin, A. and Amrom, D. and Van De Broeck, H. and Nikkel, S.M. and Chudley, A.E. and Prasad, A.N. and Rusu, C. and Covic, M. and Toutain, A. and Moraine, C. and Parisi, M.A. and Patton, M. and Martin, J.-J. and Van Thienen, M.-N.
DOI: 10.1002/ajmg.a.20687
2004

Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype
American Journal of Medical Genetics
Prasad, C. and Marles, S. and Prasad, A.N. and Nikkel, S. and Longstaffe, S. and Peabody, D. and Eng, B. and Wright, S. and Waye, J.S. and Nowaczyk, M.J.M.
DOI: 10.1002/ajmg.10211
2002

History of genetics through philately - Deafness
Clinical Genetics
Nikkel, S.M. and Chudley, A.E.
DOI: 10.1034/j.1399-0004.2001.600603.x
2001