Sarah M Nikkel

Sarah M Nikkel

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Sarah M Nikkel

Sarah M Nikkel

Publications by authors named "Sarah M Nikkel"

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31Publications

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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.

Eur J Med Genet 2018 Feb 21;61(2):89-93. Epub 2017 Oct 21.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2017.10.011DOI Listing
February 2018

Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 20;177(1):101-109. Epub 2017 Nov 20.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.b.32610
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http://dx.doi.org/10.1002/ajmg.b.32610DOI Listing
January 2018

Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

Authors:
Sarah M Nikkel

Curr Osteoporos Rep 2017 10;15(5):419-424

Provinical Medical Genetics Program, BC Women's Hospital and Health Centre, University of British Columbia, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

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http://dx.doi.org/10.1007/s11914-017-0392-xDOI Listing
October 2017

Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.

Am J Med Genet A 2017 Jul 9;173(7):1839-1847. Epub 2017 May 9.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38250DOI Listing
July 2017

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.

J Hum Genet 2017 Jun 23;62(6):661-663. Epub 2017 Feb 23.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/jhg.2017.18DOI Listing
June 2017

The defining DNA methylation signature of Floating-Harbor Syndrome.

Sci Rep 2016 12 9;6:38803. Epub 2016 Dec 9.

Department of Pathology and Laboratory Medicine, Western University, 1151 Richmond Street, London, N6A 3K7, Canada.

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http://dx.doi.org/10.1038/srep38803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5146968PMC
December 2016

Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery.

Childs Nerv Syst 2016 Aug 11;32(8):1537-41. Epub 2016 Mar 11.

Department of Medical Imaging, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.

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http://link.springer.com/10.1007/s00381-016-3054-x
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http://dx.doi.org/10.1007/s00381-016-3054-xDOI Listing
August 2016

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

CMAJ 2016 Aug 30;188(11):E254-E260. Epub 2016 May 30.

Department of Genetics (Daoud, Luco, Beaulieu, Jarinova, Carson, Nikkel, Graham, Richer, Armour, Boycott, Dyment) and Department of Pediatrics (Bulman, Chakraborty, Geraghty, Lines, Lacaze-Masmonteil), Children's Hospital of Eastern Ontario, Ottawa, Ont.; McGill University (Li, Bareke, Majewski) and Genome Quebec Innovation Centre (Li, Bareke, Majewski), Montréal, Que.

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http://dx.doi.org/10.1503/cmaj.150823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4978597PMC
August 2016

Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.

Eur J Hum Genet 2015 Dec 11;23(12):1640-5. Epub 2015 Mar 11.

Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.

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http://dx.doi.org/10.1038/ejhg.2015.38DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795202PMC
December 2015

Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.

Eur J Hum Genet 2015 Jul 5;23(7):990-2. Epub 2014 Nov 5.

Department of Genetics, Children's Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1038/ejhg.2014.236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463511PMC
July 2015

Noninvasive prenatal testing from cell-free DNA.

CMAJ 2014 Sep 7;186(12):934. Epub 2014 Apr 7.

Eastern Ontario Regional Genetics Program, Department of Genetics (Armour, Nikkel), Children's Hospital of Eastern Ontario; Children's Hospital of Eastern Ontario Research Institute (Armour), Ottawa, Ont.

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http://dx.doi.org/10.1503/cmaj.131551DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150709PMC
September 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

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http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder.

Behav Brain Res 2014 Apr 29;263:70-9. Epub 2014 Jan 29.

Centre for Neuroscience Studies, Queens University, Kingston, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbr.2014.01.024DOI Listing
April 2014

Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure.

Behav Brain Res 2014 Feb 1;259:97-105. Epub 2013 Nov 1.

Centre for Neuroscience Studies, Queens University, Kingston, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.bbr.2013.10.040DOI Listing
February 2014

Growth and development in thanatophoric dysplasia - an update 25 years later.

Clin Case Rep 2013 Dec 15;1(2):75-8. Epub 2013 Nov 15.

Department of Pediatrics, University of Ottawa Ottawa, Ontario, Canada ; Department of Pediatrics, Children's Hospital of Eastern Ontario Ottawa, Ontario, Canada.

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http://doi.wiley.com/10.1002/ccr3.29
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http://dx.doi.org/10.1002/ccr3.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184754PMC
December 2013

Hippocampal hypoplasia in Smith-Lemli-Opitz syndrome.

Pediatr Dev Pathol 2013 Jul-Aug;16(4):318-20. Epub 2013 May 20.

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http://dx.doi.org/10.2350/12-09-1252-LET.1DOI Listing
October 2013

Mutations in GDF5 presenting as semidominant brachydactyly A1.

Hum Mutat 2010 Oct;31(10):1155-62

Department of Regenerative Medicine, Ottawa Hospital Research Institute, and University of Ottawa Centre for Neuromuscular Disease, Ottawa, ON, Canada.

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http://dx.doi.org/10.1002/humu.21338DOI Listing
October 2010

Deficits in eye movement control in children with fetal alcohol spectrum disorders.

Alcohol Clin Exp Res 2007 Mar;31(3):500-11

Centre for Neuroscience Studies, Queen's University, Kingston, ON, Canada.

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http://dx.doi.org/10.1111/j.1530-0277.2006.00335.xDOI Listing
March 2007

A century later Farabee has his mutation.

Hum Genet 2005 Jul 11;117(2-3):285-7. Epub 2005 May 11.

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http://dx.doi.org/10.1007/s00439-005-1289-9DOI Listing
July 2005