J M Friedman

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi request reprint Neurofibromatosis 1: clinical manifestations and diagnostic criteria
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Child Neurol 17:548-54; discussion 571-2, 646-51. 2002
  2. doi request reprint ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects
    Jan M Friedman
    Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 94:670-6. 2012
  3. pmc Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    BMC Med Genomics 4:25. 2011
  4. ncbi request reprint Epidemiology of neurofibromatosis type 1
    J M Friedman
    Department of Medical Genetics at the University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
    Am J Med Genet 89:1-6. 1999
  5. pmc Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
  6. doi request reprint High-resolution array genomic hybridization in prenatal diagnosis
    J M Friedman
    Department of Medical Genetics, University of British Columbia, and Medical Genetics Research Unit, Child and Family Research Institute, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Prenat Diagn 29:20-8. 2009
  7. doi request reprint Big risks in small groups: The difference between epidemiology and counselling
    Jan M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Birth Defects Res A Clin Mol Teratol 85:720-4. 2009
  8. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
  9. ncbi request reprint Analysis of neurofibromatosis 1 (NF1) lesions by body segment
    Chana Palmer
    Department of Medical Genetics, The University of British Columbia, Vancouver, Canada
    Am J Med Genet A 125:157-61. 2004
  10. doi request reprint How do we know if an exposure is actually teratogenic in humans?
    J M Friedman
    Medical Genetics Research Unit, University of British Columbia, Children s and Women s Hospital, 4500 Oak Street, Vancouver, British Columbia, Canada
    Am J Med Genet C Semin Med Genet 157:170-4. 2011

Collaborators

Detail Information

Publications53

  1. ncbi request reprint Neurofibromatosis 1: clinical manifestations and diagnostic criteria
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Child Neurol 17:548-54; discussion 571-2, 646-51. 2002
    ..The pathogenic implications of these clinical manifestations are also considered...
  2. doi request reprint ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects
    Jan M Friedman
    Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 94:670-6. 2012
    ..Once a signal of possible teratogenicity in humans has been recognized, validating or refuting it would become an urgent matter...
  3. pmc Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    BMC Med Genomics 4:25. 2011
    ..A number of whole genome array genomic hybridization platforms are available, but little is known about their comparative performance in a clinical context...
  4. ncbi request reprint Epidemiology of neurofibromatosis type 1
    J M Friedman
    Department of Medical Genetics at the University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
    Am J Med Genet 89:1-6. 1999
    ..About half of all cases result from new mutations. The estimated rate of new NF1 mutations is unusually high, but the basis for this high mutation rate is not known. Am. J. Med. Genet. (Semin. Med. Genet.) 89:1-6, 1999...
  5. pmc Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 79:500-13. 2006
    ..This technology can detect at least twice as many potentially pathogenic de novo copy-number variants as conventional cytogenetic analysis can in people with mental retardation...
  6. doi request reprint High-resolution array genomic hybridization in prenatal diagnosis
    J M Friedman
    Department of Medical Genetics, University of British Columbia, and Medical Genetics Research Unit, Child and Family Research Institute, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Prenat Diagn 29:20-8. 2009
    ..At present, AGH should be offered for prenatal diagnosis only if the pregnancy is at especially high risk of having a pathogenic CNV or if AGH is being done as part of a clinical trial...
  7. doi request reprint Big risks in small groups: The difference between epidemiology and counselling
    Jan M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Birth Defects Res A Clin Mol Teratol 85:720-4. 2009
    ..It is important to admit these limitations and to learn more about exposures that cause birth defects and how to prevent them...
  8. pmc Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
    Jm Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    BMC Genomics 10:526. 2009
    ..However, there is no agreement regarding the kind of array, the distribution of probes across the genome, or the resolution that is most appropriate for clinical use...
  9. ncbi request reprint Analysis of neurofibromatosis 1 (NF1) lesions by body segment
    Chana Palmer
    Department of Medical Genetics, The University of British Columbia, Vancouver, Canada
    Am J Med Genet A 125:157-61. 2004
    ..57). We conclude that the development of café-au-lait spots, cutaneous neurofibromas, and plexiform neurofibromas are spatially independent in NF1 patients but that the development of all three lesions is influenced by familial factors...
  10. doi request reprint How do we know if an exposure is actually teratogenic in humans?
    J M Friedman
    Medical Genetics Research Unit, University of British Columbia, Children s and Women s Hospital, 4500 Oak Street, Vancouver, British Columbia, Canada
    Am J Med Genet C Semin Med Genet 157:170-4. 2011
    ..Each approach can be helpful, but each has limitations as well. Drawing a causal inference requires analysis of all available data, their consistency, and their biological plausibility...
  11. doi request reprint The principles of teratology: are they still true?
    Jan M Friedman
    Department of Medical Genetics, University of British Columbia, and Child and Family Research Institute, Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
    Birth Defects Res A Clin Mol Teratol 88:766-8. 2010
    ..Recent advances in our knowledge of the molecular and cellular bases of embryogenesis serve only to provide a deeper understanding of the fundamental developmental mechanisms that underlie Wilson's Principles of Teratology...
  12. doi request reprint The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study
    Linlea Armstrong
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Med Genet A 161:1654-61. 2013
    ..Effects of decreased neurofibromin on bone turnover, calcium homeostasis, and pubertal development may contribute to the differences in bone mineral content observed among people with NF1...
  13. ncbi request reprint Associations of osseous abnormalities in Neurofibromatosis 1
    S Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 143:1326-33. 2007
    ....
  14. pmc Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
    Agnes Baross
    Genome Sciences Centre, BC Cancer Agency, British Columbia Cancer Agency, Suite 100, 570 West 7th Avenue, Vancouver, BC, V5Z 4S6, Canada
    BMC Bioinformatics 8:368. 2007
    ..The popularity of this technology and its associated open source data format have resulted in the development of an increasing number of software packages for the analysis of copy number changes using these SNP arrays...
  15. ncbi request reprint Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development
    Ryan Woods
    Department of Statistics, University of British Columbia, Vancouver, Canada
    Genet Epidemiol 24:265-72. 2003
    ..Our findings suggest that more than two mutations may be necessary for VS development in NF2 patients...
  16. ncbi request reprint Associations of clinical features in neurofibromatosis 1 (NF1)
    J Szudek
    Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada
    Genet Epidemiol 19:429-39. 2000
    ..Genetic factors appear to determine the development of particular phenotypic features...
  17. doi request reprint Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
    T Tucker
    Department of Medical Genetics, Medical Genetics Research Unit, Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
    J Med Genet 46:81-5. 2009
    ..In order to characterise the growth of plexiform neurofibromas better, we performed serial magnetic resonance imaging (MRI) in NF1 patients with such tumours...
  18. ncbi request reprint The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
    F Zahir
    Department of Medical Genetics, University of British Columbia Children s and Women s Hospital, 4500 Oak Street, Vancouver, BC, Canada
    Clin Genet 72:271-87. 2007
    ..Whole-genome AGH studies are a maturing technology, but their high diagnostic utility assures their increasing use in clinical genetics...
  19. pmc Growth in North American white children with neurofibromatosis 1 (NF1)
    J Szudek
    Department of Medical Genetics, The University of British Columbia, 222 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
    J Med Genet 37:933-8. 2000
    ..To analyse the distributions of and generate growth charts for stature and occipitofrontal circumference (OFC) in neurofibromatosis 1 (NF1) patients...
  20. ncbi request reprint Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
    Y Zhao
    Department of Statistics, University of British Columbia, Vancouver, British Columbia, Canada
    Genet Epidemiol 23:245-59. 2002
    ..18-0.89), and for number of meningiomas within families with splice-site mutations (0.39; 95% CI, 0.13-0.66). Our findings are consistent with effects of both allelic and nonallelic familial factors on the clinical variability of NF2...
  21. ncbi request reprint Teratogenicity of recently introduced medications in human pregnancy
    W Y Lo
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Obstet Gynecol 100:465-73. 2002
    ..To determine how long it takes after a new drug is marketed to establish whether or not its use by pregnant women is likely to pose a substantial teratogenic risk...
  22. doi request reprint Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Med Genet 46:259-65. 2009
    ..Patients with neurofibromatosis 1 (NF1) are shorter than expected and often have low bone mineral density (BMD), but the pathogenesis of these bony problems is poorly understood...
  23. ncbi request reprint Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
    C Tyson
    Department of Pathology, University of British Columbia, Vancouver, Canada
    Am J Med Genet A 139:173-85. 2005
    ..3). The clinical description of the three subjects with submicroscopic chromosomal changes at 7q36.3, 11q12.3-13.1, Xp22.3 is provided...
  24. ncbi request reprint Angiotensin II receptor antagonist treatment during pregnancy
    S Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Birth Defects Res A Clin Mol Teratol 73:123-30. 2005
    ....
  25. ncbi request reprint Pregnancy and postnatal outcome of mosaic isochromosome 20q
    W P Robinson
    Department of Medical Genetics, University of British Columbia, British Colombia, Canada
    Prenat Diagn 27:143-5. 2007
    ..Nonetheless, based on a review of the literature, the level of isochromosome 20q cells found is associated with risk of abnormal outcome, suggesting a possible effect in some cases...
  26. pmc Massively parallel sequencing: the next big thing in genetic medicine
    Tracy Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Hum Genet 85:142-54. 2009
    ....
  27. doi request reprint A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
    Farah R Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:1257-62. 2009
    ..1). The patient has microcephaly, unusual cup-shaped ears, scoliosis and other skeletal defects. Two genes involved in the duplicated region, PPP1R9B and COL1A1, are strong candidates for producing her phenotype...
  28. pmc Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
    Farah Zahir
    Department of Medical Genetics, University of British Columbia, Children s and Women s Hospital, Vancouver, Canada
    J Med Genet 44:556-61. 2007
    ..All three children have similar dysmorphic features, including widely-spaced eyes, short nose with flat nasal bridge, long philtrum, prominent Cupid's bow of the upper lip, full lower lip and similar auricular anomalies...
  29. doi request reprint Clinical and genetic aspects of neurofibromatosis 1
    Kimberly Jett
    Department of Medical Genetics, University of British Columbia, British Columbia, Canada
    Genet Med 12:1-11. 2010
    ....
  30. ncbi request reprint Addendum: sartan treatment during pregnancy
    Sura Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Birth Defects Res A Clin Mol Teratol 73:904-5. 2005
  31. ncbi request reprint Association between benign and malignant peripheral nerve sheath tumors in NF1
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Neurology 65:205-11. 2005
    ..The authors conducted a study to determine whether people with NF1 who have benign neurofibromas of various kinds are at greater risk of developing MPNSTs than patients with NF1 who lack these benign tumors...
  32. ncbi request reprint Utility and limitations of genetic disease databases in clinical genetics research: a neurofibromatosis 1 database example
    Patricia Birch
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Am J Med Genet C Semin Med Genet 125:42-9. 2004
    ..We discuss examples of research that have been accomplished with genetic disease databases and make recommendations regarding the organization and operation of these resources...
  33. ncbi request reprint Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects
    Sura Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    N Engl J Med 356:2684-92. 2007
    ..Information regarding the safety of selective serotonin-reuptake inhibitors (SSRIs) in human pregnancy is sparse. Concern has been raised about the risk of congenital heart defects associated with the use of SSRIs in pregnancy...
  34. doi request reprint Valuing gene testing in children with possible neurofibromatosis 1
    E Tsang
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Clin Genet 82:591-3. 2012
    ..These findings may be helpful in guiding health policy decision-making...
  35. ncbi request reprint Increased dental caries in people with neurofibromatosis 1
    T Tucker
    Department of Medical Genetics, University of British Columbia, Vancouver, Canada
    Clin Genet 72:524-7. 2007
    ..5 +/- 5.8, p = 0.019). Our findings suggest that dental caries occur more frequently than expected among people with NF1 and that individuals with this condition may require a modified dental care program...
  36. doi request reprint Cerebrovasculopathy in NF1 associated with ocular and scalp defects
    Matt Smith
    Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 155:380-5. 2011
    ..All of these defects may have occurred as a result of disruption of the blood supply caused by NF1 vasculopathy prenatally. This constellation of vascular anomalies has not been previously reported in a patient with NF1...
  37. ncbi request reprint Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
    J Szudek
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    Genet Epidemiol 23:150-64. 2002
    ..These familial patterns suggest that unlinked modifying genes and the normal NF1 allele may both be involved in the development of particular clinical features of NF1, but that the relative contributions vary for different features...
  38. ncbi request reprint Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
    S Alwan
    University of British Columbia, Department of Medical Genetics, Room 300H Wesbrook Building, 6174 University Boulevard, Vancouver, BC V6T 1Z3
    Clin Genet 67:378-90. 2005
    ..We review the clinical and pathological features of NF1 skeletal lesions and propose that they result from an abnormal response of NF1 halpoinsufficient bone to abnormal mechanical forces rather than from a primary osseous dysplasia...
  39. doi request reprint A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
    Anna M Lehman
    Department of Medical Genetics, University of British Columbia, Canada
    Eur J Med Genet 52:436-9. 2009
    ..This rather specific recurrent pattern of congenital anomalies associated with overlapping duplications of the genomic region containing CHD7 suggests that the phenotype in these two patients may be the result of abnormal CHD7 dosage...
  40. doi request reprint Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation
    Allen D Delaney
    Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada
    Curr Protoc Hum Genet . 2008
    ..This protocol describes the measurement and analysis processes, specifically the computational analyses that are involved in identifying pathogenic copy number variants...
  41. ncbi request reprint Incidental findings from clinical genome-wide sequencing: a review
    Z Lohn
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    J Genet Couns 23:463-73. 2014
    ..There is a need for more empirical studies to provide a foundation for institutional protocols and evidence-based clinical practice standards. ..
  42. ncbi request reprint Cardiac findings in an individual with neurofibromatosis 1 and sudden death
    S J Hamilton
    Department of Medical Genetics, University of British Columbia and Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet 100:95-9. 2001
    ..Other cardiac findings included non-specific cardiomyopathic changes, myocardial fibrosis, and a "floppy" mitral valve...
  43. ncbi request reprint Implications of research in male-mediated developmental toxicity to clinical counsellors, regulators, and occupational safety officers
    J M Friedman
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada V6T 1Z3
    Adv Exp Med Biol 518:219-26. 2003
    ..We don't know more than we do know about male-mediated developmental toxicity, and we are anxious to learn more...
  44. pmc Predictors of the risk of mortality in neurofibromatosis 2
    Michael E Baser
    Department of Medical Genetics, University of British Columbia, Vancouver, United Kingdom
    Am J Hum Genet 71:715-23. 2002
    ..To ensure optimal care, we recommend that people with NF2 be referred to specialty treatment centers...
  45. ncbi request reprint Unidentified bright objects associated with features of neurofibromatosis 1
    Jacek Szudek
    Department of Medical Genetics University of British Columbia, Vancouver, BC, Canada
    Pediatr Neurol 27:123-7. 2002
    ..0, 95% CI = 1.3-3.1), and Lisch nodules (OR = 1.6, 95% CI = 1.1-2.3). These findings suggest a common causal mechanism between unidentified bright objects and these cardinal clinical features in children with neurofibromatosis 1...
  46. ncbi request reprint Analysis of NF1 transcriptional regulatory elements
    Tsz Kin Bernard Lee
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada V6T 1Z3
    Am J Med Genet A 137:130-5. 2005
    ..This sequence, which is identical in human, mouse, and rat and differs by only 1-bp in Fugu, may contain the core promoter element for NF1 transcription...
  47. ncbi request reprint Insights into the pathogenesis of neurofibromatosis 1 vasculopathy
    S J Hamilton
    Department of Medical Genetics, University of British Columbia and Children s and Women s Health Centre of British Columbia, Vancouver, Canada
    Clin Genet 58:341-4. 2000
    ..Elucidation of the role of neurofibromin in the maintenance and repair of blood vessels may lead to novel approaches to the treatment of NF1 vasculopathy and vascular disease in general...
  48. doi request reprint Maternal use of bupropion and risk for congenital heart defects
    Sura Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
    Am J Obstet Gynecol 203:52.e1-6. 2010
    ..We sought to determine if maternal bupropion treatment in early pregnancy is associated with congenital heart defects in the infant...
  49. ncbi request reprint Cardiovascular disease in neurofibromatosis 1: report of the NF1 Cardiovascular Task Force
    J M Friedman
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, BC V6T 1Z3, Canada
    Genet Med 4:105-11. 2002
    ..Patients with neurofibromatosis 1 (NF1) are at increased risk for a variety of cardiovascular disorders, but the natural history and pathogenesis of these abnormalities are poorly understood...
  50. pmc Vertebral scalloping in neurofibromatosis type 1: a quantitative approach
    Edmund S H Kwok
    Department of Medical Genetics, University of British Columbia, Vancouver
    Can J Surg 45:181-4. 2002
    ..To investigate quantitative differences in vertebral scalloping between children who have scoliosis with and without neurofibromatosis type 1 (NF1)...
  51. doi request reprint Parental perceived value of a diagnosis for intellectual disability (ID): a qualitative comparison of families with and without a diagnosis for their child's ID
    Nancy L Makela
    Collaboration for Outcomes Research and Evaluation CORE, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada
    Am J Med Genet A 149:2393-402. 2009
    ..Surprisingly, between the two groups there were no differences in the parents' perceptions or experiences related to the presence or absence of an etiological diagnosis for their child's ID...
  52. ncbi request reprint Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
    Jacek Szudek
    Department of Medical Genetics, University of British Columbia, 6174 University Boulevard, Vancouver, British Columbia, Canada
    Hum Genet 112:289-97. 2003
    ..Our studies show that some individuals with NF1 are more likely than others to develop certain clinical features of the disease. Some NF1 features appear to share pathogenic mechanisms that are not common to all features...
  53. doi request reprint Safety of selective serotonin reuptake inhibitors in pregnancy
    Sura Alwan
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada
    CNS Drugs 23:493-509. 2009
    ..Thus, pregnant women who require treatment for depression and their physicians often face a difficult choice regarding the use of SSRIs...