Kym M Boycott

Summary

Affiliation: Children's Hospital of Eastern Ontario
Country: Canada

Publications

  1. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
  2. ncbi request reprint Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
  3. ncbi request reprint Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 143:1715-25. 2007
  4. ncbi request reprint Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
    Shashirekha Shetty
    Department of Medical Genetics, Alberta Children s Hospital, Calgary, Alberta, Canada
    Clin Dysmorphol 16:253-6. 2007
  5. doi request reprint Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada Electronic address
    Am J Hum Genet 97:886-93. 2015
  6. pmc The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    BMC Neurol 14:22. 2014
  7. doi request reprint Identification of genes for childhood heritable diseases
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada email
    Annu Rev Med 65:19-31. 2014
  8. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget A Fernandez
    Discipline of Genetics, Memorial University of Newfoundland, Health Sciences Centre, St John s, Newfoundland and Labrador, Canada
    BMC Med Genet 13:111. 2012
  9. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
  10. doi request reprint Clinical genetics and the Hutterite population: a review of Mendelian disorders
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 146:1088-98. 2008

Detail Information

Publications48

  1. pmc Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Alberta, Canada
    Am J Hum Genet 77:477-83. 2005
    ..To our knowledge, this syndrome represents the first human lipoprotein receptor malformation syndrome and the second human disease associated with a reelin pathway defect...
  2. ncbi request reprint Autosomal recessive cerebellar hypoplasia in the Hutterite population
    Hannah C Glass
    Division of Neurology, Alberta Children s Hospital, Calgary, Alberta, Canada
    Dev Med Child Neurol 47:691-5. 2005
    ..Neuroimaging is characterized by hypoplasia of the inferior portion of the cerebellar hemispheres and vermis, and mild simplification of cortical gyri...
  3. ncbi request reprint Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome
    Kym M Boycott
    Department of Medical Genetics, Alberta Children s Hospital and University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 143:1715-25. 2007
    ..Homozygous deletions of NPHP1 and the known loci for JS/JSRD and MKS were excluded by identity-by-descent mapping studies suggesting that this condition in the Hutterites represents yet another locus for a JSRD...
  4. ncbi request reprint Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis
    Shashirekha Shetty
    Department of Medical Genetics, Alberta Children s Hospital, Calgary, Alberta, Canada
    Clin Dysmorphol 16:253-6. 2007
    ..This case illustrates the need for a systematic molecular study of breakpoints and the surrounding chromosomal regions in patients with apparently balanced rearrangements and phenotypic abnormalities...
  5. doi request reprint Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada Electronic address
    Am J Hum Genet 97:886-93. 2015
    ..Our findings identify a human Mn and Zn transporter deficiency syndrome linked to SLC39A8, providing insight into the roles of Mn and Zn homeostasis in human health and development...
  6. pmc The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    BMC Neurol 14:22. 2014
    ..Even for the subset of epilepsy patients that present with a defining feature, such as microcephaly, the number of possible genes that would require interrogation by Sanger sequencing is extensive and often prohibitively expensive...
  7. doi request reprint Identification of genes for childhood heritable diseases
    Kym M Boycott
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, K1H 8L1 Canada email
    Annu Rev Med 65:19-31. 2014
    ..Nonetheless, genomic technologies are poised for widespread translation to clinical practice for the benefit of children and families living with these rare diseases. ..
  8. pmc Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype
    Bridget A Fernandez
    Discipline of Genetics, Memorial University of Newfoundland, Health Sciences Centre, St John s, Newfoundland and Labrador, Canada
    BMC Med Genet 13:111. 2012
    ..Its core features are congenital neutropenia and a prominent venous skin pattern, and affected individuals have variable birth defects. Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2...
  9. pmc Mutations in VLDLR as a cause for autosomal recessive cerebellar ataxia with mental retardation (dysequilibrium syndrome)
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    J Child Neurol 24:1310-5. 2009
    ..Neuroanatomically, the loss-of-function effect of the different mutations is indistinguishable. VLDLR-associated cerebellar hypoplasia is emerging as a panethnic, clinically, and molecularly well-defined genetic syndrome...
  10. doi request reprint Clinical genetics and the Hutterite population: a review of Mendelian disorders
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 146:1088-98. 2008
    ..This review summarizes what is currently understood about the molecular etiology of the Mendelian disorders and highlights the cardinal features of those disorders that are unique to or over-represented in this population...
  11. doi request reprint A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population
    Kym M Boycott
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 152:1349-56. 2010
    ..The identification of the gene for this syndrome will provide new insights into development and learning...
  12. doi request reprint Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    J Child Neurol 30:1037-43. 2015
    ..This finding expands the phenotypic spectrum associated with mutations in KARS and draws attention to aminoacyl-transfer RNA synthetase as a group of enzymes that are increasingly being implicated in human disease. ..
  13. pmc Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, 401 Smyth Rd, Ottawa, ON K1H 8 L1, Canada
    BMC Med Genet 15:36. 2014
    ..Dominant mutations in GARS cause rare forms of Charcot-Marie-Tooth disease and distal spinal muscular atrophy...
  14. doi request reprint Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology
    David A Dyment
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada Department of Genetics, Children s Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada Electronic address
    Neurobiol Aging 36:1222.e1-5. 2015
    ..Our findings broaden the spectrum of disease associated with alteration of SYNJ1 and further implicate defects in synaptic vesicle recycling in the tauopathies. ..
  15. pmc Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome
    Laura M McDonell
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Nat Genet 45:556-62. 2013
    ....
  16. doi request reprint Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy
    Sarah L Sawyer
    Department of Genetics, Children s Hospital of Eastern Ontario and Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Hum Mol Genet 24:5109-14. 2015
    ..These findings show that homozygous mutations at p.R707W in MFN2 are a novel cause of multiple symmetrical lipomatosis. ..
  17. pmc FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada
    Am J Hum Genet 94:809-17. 2014
    ..Lastly, on the basis of this experience, we discuss the way forward for rare-disease genetic discovery both in Canada and internationally. ..
  18. pmc Mutations in PIK3R1 cause SHORT syndrome
    David A Dyment
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada
    Am J Hum Genet 93:158-66. 2013
    ..Our findings show that PIK3R1 mutations are the major cause of SHORT syndrome and suggest that the molecular mechanism of disease might involve downregulation of the PI3K-AKT-mTOR pathway...
  19. doi request reprint Lateral meningocele (Lehman) syndrome: A child with a novel NOTCH3 mutation
    Resham Ejaz
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Med Genet A 170:1070-5. 2016
    ..Our patient's prenatal findings, complex cardiac anomalies, and severe feeding difficulties further expand our understanding of this rare condition. © 2016 Wiley Periodicals, Inc. ..
  20. doi request reprint Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2
    Justin D Wagner
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Neuromuscul Disord 25:794-9. 2015
    ..Taken together, our data and that from the literature suggest that the spectrum of clinical presentations associated with mutations in IGHMBP2 may be secondary, at least in part, to the amount of residual protein. ..
  21. doi request reprint Neuropathologic features of pontocerebellar hypoplasia type 6
    Jeffrey T Joseph
    From the Calgary Laboratory Services JTJ and Alberta Children s Hospital Foundation Research Institute for Child and Maternal Health, Department of Medical Genetics AMI, University of Calgary, Calgary, Alberta Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario ACS, MRV, FCC, DEB, JMichaud, KMB and McGill University and Genome Quebec Innovation Center, Montreal, Quebec JAS, JMajewski, Canada Center for Integrative Brain Research, Seattle Children s Research Institute, Seattle, Washington RFH, RAD and Department of Neurological Surgery, University of Washington, Seattle, Washington RFH
    J Neuropathol Exp Neurol 73:1009-25. 2014
    ..This is the first detailed description of neuropathologic findings associated with pontocerebellar hypoplasia type 6 and demonstrates the profound effects of RARS2 disruption during early neurodevelopment. ..
  22. pmc Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype
    Sarah L Sawyer
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Cancer Discov 5:135-42. 2015
    ..Restoration of these functions was achieved by ectopic introduction of a BRCA1 transgene. These observations provide evidence in support of BRCA1 as a new Fanconi anemia gene (FANCS)...
  23. doi request reprint Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
    Sunita Venkateswaran
    Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Epilepsia 55:e75-9. 2014
    ..Further prospective studies in additional patients with mutations in GRIN2A will be required to optimize seizure management for this rare disorder. This report expands the current phenotype associated with GRIN2A mutations...
  24. pmc Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
    Hugh J McMillan
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:90. 2012
    ..Here we report two brothers (16½ and 14 years old) with DBP deficiency characterized by normal early childhood followed by sensorineural hearing loss, progressive cerebellar and sensory ataxia and subclinical retinitis pigmentosa...
  25. pmc Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
    Rebecca L Hood
    Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:308-13. 2012
    ..Our findings show that SRCAP mutations are the major cause of FHS and offer an explanation for the clinical overlap between FHS and RTS...
  26. doi request reprint Rare-disease genetics in the era of next-generation sequencing: discovery to translation
    Kym M Boycott
    Department of Pediatrics, University of Ottawa and Children s Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa, Ontario K1H 8L1, Canada
    Nat Rev Genet 14:681-91. 2013
    ..Last, we explore the increasing therapeutic opportunities and challenges that the resulting expansion of the 'atlas' of human genetic pathology will bring. ..
  27. doi request reprint Homozygous contiguous gene deletion of 13q12 causing LGMD2C and ARSACS in the same patient
    Hugh J McMillan
    Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Muscle Nerve 39:396-9. 2009
    ..This is the first report of a patient with both neurological diseases, and this case illustrates the clinical utility of microarray technology in the investigation of patients with unusual presentations...
  28. pmc Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
    Lijia Huang
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:67. 2012
    ....
  29. doi request reprint Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene
    Amanda Smith
    Department of Genetics, Children s Hospital of Eastern Ontario, Research Institute and University of Ottawa, Ottawa, Ontario, Canada
    Eur J Hum Genet 23:990-2. 2015
    ..The earliest manifestation of the affected individuals was the presence of second trimester fetal echogenic bowel, thus resulting in the expansion of the differential diagnosis of this ultrasound finding. ..
  30. doi request reprint Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies
    Catrina M Loucks
    Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada
    Hum Mutat 36:1015-9. 2015
    ..Sharing of data via Web-based anonymous data exchange servers will play an increasingly important role toward more efficient identification of the molecular basis for rare Mendelian disorders. ..
  31. doi request reprint Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
    Amanda C Smith
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    J Med Genet 51:470-4. 2014
    ..As part of the FORGE Canada Consortium we studied two unrelated families to identify the genetic aetiology of this rare disease...
  32. pmc 17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)
    Christine M Armour
    Department of Pediatrics, Queen s University Kingston General Hospital, 20 Barrie Street, Kingston, Ontario, Canada
    Eur J Hum Genet 19:1144-51. 2011
    ..These findings, along with previously published data, suggest that one locus responsible for this form of SHFLD is located within a 173 kb overlapping critical region, and that the copy gains are incompletely penetrant...
  33. doi request reprint Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing
    Jodi Warman Chardon
    Division of Neurology, The Ottawa Hospital, 1053 Carling Avenue, Ottawa, ON, K1Y 4E9, Canada
    Curr Neurol Neurosci Rep 15:64. 2015
    ..Given the decreasing costs and relatively rapid time to results, NGS-based assessment is quickly becoming a standard-of-care test for patients with genetic neurological diseases. ..
  34. doi request reprint Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin
    Laura M McDonell
    Department of Genetics, Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Hum Mol Genet 24:R60-6. 2015
    ..Additionally, we propose that comparative analysis of RTK mutations responsible for developmental syndromes may shed light on those driving tumorigenesis...
  35. doi request reprint Recent advances in the genetic etiology of brain malformations
    David A Dyment
    Department of Genetics, Children s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, Canada, K1H 8L1
    Curr Neurol Neurosci Rep 13:364. 2013
    ....
  36. pmc TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
    Lijia Huang
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Am J Hum Genet 89:713-30. 2011
    ..Collectively, our findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes...
  37. pmc Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
    Matthew A Lines
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ontario, Canada
    Am J Hum Genet 90:369-77. 2012
    ..Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome...
  38. doi request reprint Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing
    Hao Liu
    Faculty of Medicine, University of Ottawa, Ottawa, ON, Canada
    Am J Med Genet A 167:1337-41. 2015
    ....
  39. pmc Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals
    Melissa T Carter
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Canada
    Am J Med Genet A 149:1712-21. 2009
    ..Language development and ability for self-care are also very impaired. This study provides new information on the clinical spectrum and natural history of Emanuel syndrome for families and physicians caring for these individuals...
  40. pmc Mutations in EZH2 cause Weaver syndrome
    William T Gibson
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Hum Genet 90:110-8. 2012
    ..Sanger sequencing of EZH2 in a third classically-affected proband identified a third de novo mutation in this gene. These data show that mutations in EZH2 cause Weaver syndrome...
  41. ncbi request reprint A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD
    Kym M Boycott
    Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada
    Am J Med Genet A 122:139-47. 2003
    ..3 region is not always associated with the classic presentations of Léri-Weill syndrome, or chondrodysplasia punctata, and that one or more genes involved in learning and attention may reside in Xp22.3...
  42. ncbi request reprint Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula
    Leah Layman-Pleet
    University of Ottawa Medical School, Ottawa, Ontario, Canada
    J Pediatr Surg 42:E1-3. 2007
    ..Feingold syndrome is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling...
  43. doi request reprint A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism
    Aleksandra Mineyko
    Department of Pediatrics, Division of Neurology, Children s Hospital of Eastern Ontario, Ottawa, Canada K1H 8L1
    J Child Neurol 25:738-41. 2010
    ..This patient is one of only a few reported with a missense mutation in LIS1 associated with subcortical band heterotopia, and this is the first report of a mosaic individual having an affected child...
  44. doi request reprint Fitzsimmons syndrome: spastic paraplegia, brachydactyly and cognitive impairment
    Christine M Armour
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 149:2254-7. 2009
    ..He has moderate cognitive handicap and pervasive developmental delay. A detailed comparison of this patient with the earlier described cases is presented to further delineate the condition and increase awareness of this syndrome...
  45. doi request reprint Resolution of refractory hypotension and anuria in a premature newborn with loss-of-function of ACE
    Julie Richer
    Department of Genetics, Children s Hospital of Eastern Ontario, Ottawa, Ontario, Canada
    Am J Med Genet A 167:1654-8. 2015
    ..The premature delivery, and serendipitous early treatment with vasopressin, and then later fludrocortisone, resulted in an optimal outcome in an otherwise lethal condition...
  46. doi request reprint PhenoTips: patient phenotyping software for clinical and research use
    Marta Girdea
    Department of Computer Science, University of Toronto, Ontario, Canada
    Hum Mutat 34:1057-65. 2013
    ..Our source code and a demo version of PhenoTips are available at http://phenotips.org. ..
  47. doi request reprint Lake Louise mutation detection meeting 2013: clinical translation of next-generation sequencing requires optimization of workflows and interpretation of variants
    Amanda Smith
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada
    Hum Mutat 35:265-9. 2014
    ....
  48. pmc A generalizable pre-clinical research approach for orphan disease therapy
    Chandree L Beaulieu
    Children s Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
    Orphanet J Rare Dis 7:39. 2012
    ..In addition to enabling academic pre-clinical research, strategies such as this may also aid in seeding startup companies, as well as further engaging the pharmaceutical industry in the treatment of rare genetic disease...