Sarah M Nikkel

MD

Investigator, BC Children's Hospital
Medical Geneticist, BC Women's Hospital + Health Centre
Interim Medical Director, Provincial Medical Genetics Program

Dr. Nikkel’s research is focused on individuals with skeletal dysplasias and short stature conditions. Since gene discoveries have improved our understanding of this group of conditions and there are now available pharmacotherapies—with more in development—Dr. Nikkel aims to work with industry partners to investigate how these therapies may benefit children and youth with skeletal dysplasia.

Academic Affiliations

  • Clinical Associate Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Rare Diseases

Contact Information

Location

4500 Oak Street, Vancouver, British Columbia, Canada, V6H 3N1

SCN3A-related neurodevelopmental disorder: Clinical case reports and biophysical characterization

Channels

Ghovanloo, M.-R. and Gershome, C. and van der Lee, R. and Drogemoller, B. and Zhang, L. and Matthews, A. and Blydt-Hansen, I. and Nikkel, S.M. and Demos, M. and Wasserman, W.W. and Ross, C.J. and van Karnebeek, C.D. and Ruben, P.C.

DOI: 10.1080/19336950.2025.2580175

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Journal of Medical Genetics

Lacombe, D. and Bloch-Zupan, A. and Bredrup, C. and Cooper, E.B. and Houge, S.D. and Garca-Miar, S. and Kayserili, H. and Larizza, L. and Lopez Gonzalez, V. and Menke, L.A. and Milani, D. and Saettini, F. and Stevens, C.A. and Tooke, L. and Van Der Zee, J.A. and Van Genderen, M.M. and Van-Gils, J. and Waite, J. and Adrien, J.-L. and Bartsch, O. and Bitoun, P. and Bouts, A.H.M. and Cueto-Gonzlez, A.M. and Dominguez-Garrido, E. and Duijkers, F.A. and Fergelot, P. and Halstead, E. and Huisman, S.A. and Meossi, C. and Mullins, J. and Nikkel, S.M. and Oliver, C. and Prada, E. and Rei, A. and Riddle, I. and Rodriguez-Fonseca, C. and Rodrguez Pena, R. and Russell, J. and Saba, A. and Santos-Simarro, F. and Simpson, B.N. and Smith, D.F. and Stevens, M.F. and Szakszon, K. and Taupiac, E. and Totaro, N. and Valenzuena Palafoll, I. and Van Der Kaay, D.C.M. and Van Wijk, M.P. and Vyshka, K. and Wiley, S. and Hennekam, R.C.

DOI: 10.1136/jmg-2023-109438

Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series

Journal of Neuropathology and Experimental Neurology

Das, S. and Brown, L. and Nikkel, S.M. and Saunders, J. and Dunham, C.

DOI: 10.1093/jnen/nlae070

Correction to: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia (Nature Communications, (2023), 14, 1, (7054), 10.1038/s41467-023-41651-6)

Nature Communications

Gourgas, O. and Lemire, G. and Eaton, A.J. and Alshahrani, S. and Duker, A.L. and Li, J. and Carroll, R.S. and Mackenzie, S. and Nikkel, S.M. and Bober, M.B. and Boycott, K.M. and Murshed, M.

DOI: 10.1038/s41467-024-47898-x

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach

American Journal of Medical Genetics, Part A

de Kock, L. and Cuillerier, A. and Gillespie, M. and Couse, M. and Hartley, T. and Mears, W. and Bernier, F.P. and Chudley, A.E. and Frosk, P. and Nikkel, S.M. and Innes, A.M. and Lauzon, J. and Thomas, M. and Guerin, A. and Armour, C.M. and Weksberg, R. and Scott, J.N. and Watkins, D. and Harvey, S. and Cytrynbaum, C. and Kernohan, K.D. and Boycott, K.M.

DOI: 10.1002/ajmg.a.63466

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia

Nature Communications

Gourgas, O. and Lemire, G. and Eaton, A.L. and Alshahrani, S. and Duker, A.L. and Li, J. and Carroll, R.S. and Mackenzie, S. and Nikkel, S.M. and Bober, M.B. and Boycott, K.M. and Murshed, M.

DOI: 10.1038/s41467-023-41651-6

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders

Journal of Bone and Mineral Research

Batkovskyte, D. and McKenzie, F. and Taylan, F. and Simsek-Kiper, P.O. and Nikkel, S.M. and Ohashi, H. and Stevenson, R.E. and Ha, T. and Cavalcanti, D.P. and Miyahara, H. and Skinner, S.A. and Aguirre, M.A. and Ak?ren, Z. and Utine, G.E. and Chiu, T. and Shimizu, K. and Hammarsj, A. and Boduroglu, K. and Moore, H.W. and Louie, R.J. and Arts, P. and Merrihew, A.N. and Babic, M. and Jackson, M.R. and Papadogiannakis, N. and Lindstrand, A. and Nordgren, A. and Barnett, C.P. and Scott, H.S. and Chagin, A.S. and Nishimura, G. and Grigelioniene, G.

DOI: 10.1002/jbmr.4799

Impact of Variation in Practice in the Prenatal Reporting of Variants of Uncertain Significance by Commercial Laboratories: Need for Greater Adherence to Published Guidelines

Obstetrical and Gynecological Survey

Cornthwaite, M. and Turner, K. and Armstrong, L. and Boerkoel, C.F. and Chang, C. and Lehman, A. and Nikkel, S.M. and Patel, M.S. and van Allen, M. and Langlois, S.

DOI: 10.1097/01.ogx.0000935836.78364.35

Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys

Prenatal Diagnosis

Digby, E.L. and Liauw, J. and Dionne, J. and Langlois, S. and Nikkel, S.M.

DOI: 10.1002/pd.5883

Microarray results as an indicator of sexual abuse

Paediatrics and Child Health (Canada)

Russell, V. and Nikkel, S.M. and Ward, M.G.K.

DOI: 10.1093/pch/pxz034

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

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

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 Ttreault, M. and Kernohan, K.D. and Dyment, D.A.

DOI: 10.1016/j.ejmg.2017.10.011

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

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

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

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

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know

Current Osteoporosis Reports

Nikkel, S.M.

DOI: 10.1007/s11914-017-0392-x

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

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

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

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 Deladoy, 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

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

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

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

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

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

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

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

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

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

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

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 Prez-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

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 Destre, A. and Fitzpatrick, D. and Forzano, F. and Ghali, N. and Gillies, G. and Harwood, K. and Hendriks, Y.M.C. and Hron, 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 S, 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

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

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

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

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

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

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

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Nature Genetics

Rivire, 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

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

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

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

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

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

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

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

Carrier Screening for Thalassemia and Hemoglobinopathies in Canada

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Ford, J.C. and Chitayat, D. and Dsilets, 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

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

Fragile X testing in obstetrics and gynecology in Canada,Dpistage du X fragile en obsttrique-gyncologie 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 Dsilets, V. and Dsilets, 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

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 Dsilets, V. and Dsilets, 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

Carrier screening for thalassemia and hemoglobinopathies in Canada,Dpistage des porteurs de thalassmie et d'hmoglobinopathies au Canada

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Ford, J.C. and Chitayat, D. and Dsilets, 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

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

Mid-trimester amniocentesis fetal loss rate,Taux de perte foetale associe l'amniocentse mene au cours du deuxime trimestre

Journal of Obstetrics and Gynaecology Canada

Wilson, R.D. and Langlois, S. and Johnson, J.-A. and Dsilets, 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

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

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

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

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

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

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 Dsilets, 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

Carrier screening for genetic disorders in individuals of Ashkenazi Jewish descent,Dpistage des porteurs de troubles gntiques chez les personnes d'origine juive ahknaze

Journal of Obstetrics and Gynaecology Canada

Langlois, S. and Wilson, D. and Allen, V.M. and Blight, C. and Dsilets, 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

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

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

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

Mbius 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

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

History of genetics through philately - Deafness

Clinical Genetics

Nikkel, S.M. and Chudley, A.E.

DOI: 10.1034/j.1399-0004.2001.600603.x

Achondroplasia Clinical Trial

This clinical trial will seek to explore the treatment of achondroplasia via pharmacotherapy with the end goal of assessing improvements in growth and function in these individuals. This would be one of 3 sites in Canada and 25 sites globally.

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