- Overview
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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.
- Publications
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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
Journal of Medical Genetics
DOI: 10.1136/jmg-2023-109438
2024Dual white matter pathology in fetal holoprosencephaly featuring concurrent malformative and destructive features: A case series
Journal of Neuropathology and Experimental Neurology
DOI: 10.1093/jnen/nlae070
2024Correction 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
DOI: 10.1038/s41467-024-47898-x
2024Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.63466
2024Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Nature Communications
DOI: 10.1038/s41467-023-41651-6
2023Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders
Journal of Bone and Mineral Research
DOI: 10.1002/jbmr.4799
2023Impact 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
DOI: 10.1097/01.ogx.0000935836.78364.35
2023Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys
Prenatal Diagnosis
DOI: 10.1002/pd.5883
2021Microarray results as an indicator of sexual abuse
Paediatrics and Child Health (Canada)
DOI: 10.1093/pch/pxz034
2020RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
DOI: 10.1007/s00431-019-03399-4
2019A review of skeletal dysplasias for the pediatric endocrinologist
Encyclopedia of Endocrine Diseases
DOI: 10.1016/B978-0-12-801238-3.66189-5
2018A 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
DOI: 10.1016/j.ejmg.2017.10.011
2018Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.38838
2018Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.32610
2018Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort
American Journal of Medical Genetics, Part A
DOI: 10.1002/ajmg.a.38250
2017Unpacking 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
DOI: 10.1007/s41252-017-0034-4
2017Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know
Current Osteoporosis Reports
DOI: 10.1007/s11914-017-0392-x
2017Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1
Journal of Human Genetics
DOI: 10.1038/jhg.2017.18
2017Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery
Child's Nervous System
DOI: 10.1007/s00381-016-3054-x
2016Relationships between head circumference, brain volume and cognition in children with prenatal alcohol exposure
PLoS ONE
DOI: 10.1371/journal.pone.0150370
2016Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: Time to address gaps in care
Clinical Genetics
DOI: 10.1111/cge.12654
2016The defining DNA methylation signature of Floating-Harbor Syndrome
Scientific Reports
DOI: 10.1038/srep38803
2016Next-generation sequencing for diagnosis of Rare diseases in the neonatal intensive care unit
CMAJ
DOI: 10.1503/cmaj.150823
2016Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
European Journal of Human Genetics
DOI: 10.1038/ejhg.2014.236
2015Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
European Journal of Human Genetics
DOI: 10.1038/ejhg.2015.38
2015Disruption 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
DOI: 10.1093/hmg/ddt669
2014Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure
Behavioural Brain Research
DOI: 10.1016/j.bbr.2013.10.040
2014Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder
Behavioural Brain Research
DOI: 10.1016/j.bbr.2014.01.024
2014Five things to know about ¿: Noninvasive prenatal testing from cell-free DNA
CMAJ
DOI: 10.1503/cmaj.131551
2014Whole-exome sequencing expands the phenotype of Hunter syndrome
Clinical Genetics
DOI: 10.1111/cge.12236
2014Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p. Arg569His
Clinical Genetics
DOI: 10.1111/cge.12290
2014Coffin-siris syndrome and the BAF complex: Genotype-phenotype study in 63 patients
Human Mutation
DOI: 10.1002/humu.22394
2013The phenotype of Floating-Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
Orphanet Journal of Rare Diseases
DOI: 10.1186/1750-1172-8-63
2013Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis
Human Mutation
DOI: 10.1002/humu.22222
2013Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy
Clinical Genetics
DOI: 10.1111/j.1399-0004.2012.01950.x
2013Hippocampal hypoplasia in smith-lemli-opitz syndrome
Pediatric and Developmental Pathology
DOI: 10.2350/12-09-1252-LET.1
2013Erratum 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
DOI: 10.1002/humu.22290
2013Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2011.12.001
2012Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2012-101008
2012De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Nature Genetics
DOI: 10.1038/ng.2331
2012Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder
Clinical Genetics
DOI: 10.1111/j.1399-0004.2010.01578.x
2011Mutations in GDF5 presenting as semidominant brachydactyly A1
Human Mutation
DOI: 10.1002/humu.21338
2010Mutations 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
DOI: 10.1016/j.ajhg.2009.08.012
2009Oculomotor control in children with fetal alcohol spectrum disorders assessed using a mobile eye-tracking laboratory
European Journal of Neuroscience
DOI: 10.1111/j.1460-9568.2009.06668.x
2009Mutations in MMP9 and MMP13 Determine the Mode of Inheritance and the Clinical Spectrum of Metaphyseal Anadysplasia
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2009.06.014
2009Executive 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
DOI: 10.1111/j.1469-7610.2008.01990.x
2009Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog
European Journal of Human Genetics
DOI: 10.1038/ejhg.2009.18
2009Carrier Screening for Thalassemia and Hemoglobinopathies in Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32975-9
2008TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2008.10.011
2008Fragile X testing in obstetrics and gynecology in Canada,Dépistage du X fragile en obstétrique-gynécologie au Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32950-4
2008Fragile X Testing in Obstetrics and Gynaecology in Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32949-8
2008Carrier screening for thalassemia and hemoglobinopathies in Canada,Dépistage des porteurs de thalassémie et d'hémoglobinopathies au Canada
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32976-0
2008Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer
JAMA
DOI: 10.1001/jama.297.21.2360
2007Mid-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
DOI: 10.1016/S1701-2163(16)32502-6
2007High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
Human Genetics
DOI: 10.1007/s00439-007-0386-3
2007Erratum: A century later Farabee has his mutation (Human Genetics (2007) vol. 117 (285-287) 10.007/s00439-005-1289-9)
Human Genetics
DOI: 10.1007/s00439-006-0265-3
2007Prenatal Screening for Fetal Aneuploidy
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32379-9
2007Mid-Trimester Amniocentesis Fetal Loss Rate
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32501-4
2007Deficits in eye movement control in children with fetal alcohol spectrum disorders
Alcoholism: Clinical and Experimental Research
DOI: 10.1111/j.1530-0277.2006.00335.x
2007Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent
Journal of Obstetrics and Gynaecology Canada
DOI: 10.1016/S1701-2163(16)32131-4
2006Carrier 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
DOI: 10.1016/S1701-2163(16)32132-6
2006A century later Farabee has his mutation
Human Genetics
DOI: 10.1007/s00439-005-1289-9
2005Further delineation of Kabuki syndrome in 48 well-defined new individuals
American Journal of Medical Genetics
DOI: 10.1002/ajmg.a.30340
2005Germline E-cadherin mutations in hereditary diffuse gastric cancer: Assessment of 42 new families and review of genetic screening criteria
Journal of Medical Genetics
DOI: 10.1136/jmg.2004.018275
2004Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
American Journal of Medical Genetics
DOI: 10.1002/ajmg.a.20687
2004Smith-Lemli-Opitz syndrome: New mutation with a mild phenotype
American Journal of Medical Genetics
DOI: 10.1002/ajmg.10211
2002History of genetics through philately - Deafness
Clinical Genetics
DOI: 10.1034/j.1399-0004.2001.600603.x
2001 - Research
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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.
BCCHR research could help set new international standard for young children receiving bone marrow transplants
The findings from a BCCHR study played a part in integrating the multiple breath washout test into recent recommendations to screen children for pulmonary chronic graft-versus-host disease, a lung complication that can affect children who undergo a bone marrow transplant.
