Jan M Friedman

Jan M Friedman

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Strabismus in Children With Intellectual Disability: Part of a Broader Motor Control Phenotype?

Pediatr Neurol 2019 Nov 11;100:87-91. Epub 2019 Apr 11.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; BC Children's Hospital and BC Women's Hospital, Vancouver, BC, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2019.04.002DOI Listing
November 2019

Atypical antipsychotic use during pregnancy and birth defect risk: National Birth Defects Prevention Study, 1997-2011.

Schizophr Res 2019 Nov 21. Epub 2019 Nov 21.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 4770 Buford Highway, MS S-106, Atlanta, GA 30341, USA.

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http://dx.doi.org/10.1016/j.schres.2019.11.019DOI Listing
November 2019

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Mol Genet Metab 2019 08 9;127(4):368-372. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.07.001DOI Listing
August 2019

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.

Genet Med 2019 Aug 29. Epub 2019 Aug 29.

Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/s41436-019-0635-6DOI Listing
August 2019

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Transl Res 2019 06 15;208:15-29. Epub 2019 Feb 15.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada; Comprehensive Heart Failure Center and Department of Internal Medicine I, University Hospital Würzburg, Würzburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.trsl.2019.02.004DOI Listing
June 2019

Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?

Genet Med 2019 02 12;21(2):498-504. Epub 2018 Jun 12.

Centre of Genomics and Policy, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1038/s41436-018-0055-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752673PMC
February 2019

The importance of genetic counselling in genome-wide sequencing.

Nat Rev Genet 2018 12;19(12):735-736

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://www.nature.com/articles/s41576-018-0057-3
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http://dx.doi.org/10.1038/s41576-018-0057-3DOI Listing
December 2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.

Genet Med 2018 09 4;20(9):1013-1021. Epub 2018 Jan 4.

Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/gim.2017.226DOI Listing
September 2018

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.

J Genet Couns 2018 Jul 23. Epub 2018 Jul 23.

Department of Medical Genetics, University of British Columbia, Box 153, 4500 Oak Street, Vancouver, BC, V6H 3N1, Canada.

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http://dx.doi.org/10.1007/s10897-018-0281-1DOI Listing
July 2018

Key Implications of Data Sharing in Pediatric Genomics.

JAMA Pediatr 2018 05;172(5):476-481

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1001/jamapediatrics.2017.5500DOI Listing
May 2018

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.

J Eval Clin Pract 2018 04;24(2):416-422

Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1111/jep.12876DOI Listing
April 2018

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.

Orphanet J Rare Dis 2018 04 23;13(1):62. Epub 2018 Apr 23.

Department of Medical Genetics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada.

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http://dx.doi.org/10.1186/s13023-018-0811-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5913802PMC
April 2018

Controversy and debate on clinical genomics sequencing-paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!

J Clin Epidemiol 2017 Dec 12;92:7-10. Epub 2017 Sep 12.

Department of Medical Genetics, Children and Women's Hospital, University of British Columbia, 4500 Oak Street, Vancouver, British Columbia V6H 3V4, Canada.

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http://dx.doi.org/10.1016/j.jclinepi.2017.08.020DOI Listing
December 2017

Controversy and debate on clinical genomics sequencing-paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau.

J Clin Epidemiol 2017 12 23;92:13-15. Epub 2017 Sep 23.

Department of Medical Genetics, University of British Columbia, C328 - 4500 Oak Street, Vancouver, British Columbia V6H 3V4, Canada.

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http://dx.doi.org/10.1016/j.jclinepi.2017.09.019DOI Listing
December 2017

Editorial In Bed with The Devil: Recognizing Human Teratogenic Exposures.

Authors:
Jan M Friedman

Birth Defects Res 2017 11;109(18):1407-1413

Department of Medical Genetics and Genomics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/bdr2.1134DOI Listing
November 2017

A case of splenomegaly in CBL syndrome.

Eur J Med Genet 2017 Jul 13;60(7):374-379. Epub 2017 Apr 13.

British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.04.009DOI Listing
July 2017

Non-optic glioma in adults and children with neurofibromatosis 1.

Orphanet J Rare Dis 2017 02 15;12(1):34. Epub 2017 Feb 15.

Department of Neurology, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1186/s13023-017-0588-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312522PMC
February 2017

Genomic newborn screening: public health policy considerations and recommendations.

BMC Med Genomics 2017 02 21;10(1). Epub 2017 Feb 21.

Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1186/s12920-017-0247-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5320805PMC
February 2017

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes.

Am J Med Genet A 2016 11;170(11):2916-2926

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37669DOI Listing
November 2016

Low risk of solid tumors in persons with Down syndrome.

Genet Med 2016 11 31;18(11):1151-1157. Epub 2016 Mar 31.

Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

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http://dx.doi.org/10.1038/gim.2016.23DOI Listing
November 2016

Comparing the ability of OPTION(12) and OPTION(5) to assess shared decision-making in genetic counselling.

Patient Educ Couns 2016 10 24;99(10):1717-23. Epub 2016 Mar 24.

Department of Medical Genetics, University of British Columbia. Vancouver, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pec.2016.03.024DOI Listing
October 2016

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence.

CNS Drugs 2016 Jun;30(6):499-515

Department of Pediatrics, School of Medicine, University of California, La Jolla, San Diego, CA, USA.

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http://dx.doi.org/10.1007/s40263-016-0338-3DOI Listing
June 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.

J Nurs Scholarsh 2016 05 7;48(3):265-75. Epub 2016 Apr 7.

Professor, Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1111/jnu.12207DOI Listing
May 2016

Individual DNA samples and health information sold by 23andMe.

Genet Med 2016 Apr 18;18(4):305-6. Epub 2015 Jun 18.

Department of Medical Genetics, University of British Columbia, Children and Women's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/gim.2015.82DOI Listing
April 2016

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

Prenat Diagn 2016 Jan 22;36(1):15-9. Epub 2015 Nov 22.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4718DOI Listing
January 2016

Exome sequencing for gene discovery in lethal fetal disorders--harnessing the value of extreme phenotypes.

Prenat Diagn 2015 Oct 22;35(10):1005-9. Epub 2014 Aug 22.

Department of Medical Genetics, Children's and Women's Hospital, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4464DOI Listing
October 2015

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.

J Med Genet 2015 Oct 14;52(10):699-705. Epub 2015 Aug 14.

Manchester Centre for Genomic Medicine, Central Manchester NHS Foundation Trust, St Mary's Hospital, Manchester, UK Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

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http://jmg.bmj.com/content/early/2015/08/14/jmedgenet-2015-1
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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2015-103290
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http://dx.doi.org/10.1136/jmedgenet-2015-103290DOI Listing
October 2015

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1.

Am J Med Genet A 2015 Jul 21;167(7):1518-24. Epub 2015 Apr 21.

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.37068DOI Listing
July 2015

Specific SSRIs and birth defects: Bayesian analysis to interpret new data in the context of previous reports.

BMJ 2015 Jul 8;351:h3190. Epub 2015 Jul 8.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

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http://www.bmj.com/content/bmj/351/bmj.h3190.full.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4496787PMC
http://dx.doi.org/10.1136/bmj.h3190DOI Listing
July 2015

Genetic mosaics and the germ line lineage.

Genes (Basel) 2015 Apr 17;6(2):216-37. Epub 2015 Apr 17.

Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.3390/genes6020216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488662PMC
April 2015

Management of multiple sclerosis during pregnancy and the reproductive years: a systematic review.

Obstet Gynecol 2014 Dec;124(6):1157-68

Harvard Medical School and the Departments of Neurology and Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, Massachusetts; the Departments of Medical Genetics and Neurology, University of British Columbia, Vancouver, British Columbia, the Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, and the Department of Neurology, University of Alberta, Edmonton, Alberta, Canada; and St. Joseph Hospital Neurology Clinic, Ruhr University, Bochum, Germany.

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http://dx.doi.org/10.1097/AOG.0000000000000541DOI Listing
December 2014

Exposure-based validation list for developmental toxicity screening assays.

Birth Defects Res B Dev Reprod Toxicol 2014 Dec 4;101(6):423-8. Epub 2014 Dec 4.

Procter & Gamble, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/bdrb.21132DOI Listing
December 2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.

Eur J Hum Genet 2014 Jun 20;22(6):792-800. Epub 2013 Nov 20.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.248DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023222PMC
June 2014

Combined immunodeficiency associated with homozygous MALT1 mutations.

J Allergy Clin Immunol 2014 May 12;133(5):1458-62, 1462.e1-7. Epub 2013 Dec 12.

Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.10.045DOI Listing
May 2014

Genetic diagnosis through whole-exome sequencing.

N Engl J Med 2014 03;370(11):1067-8

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http://dx.doi.org/10.1056/NEJMc1315908DOI Listing
March 2014

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.

J Neurooncol 2014 Jan 29;116(2):307-13. Epub 2013 Oct 29.

Department of Pediatrics, University of Maryland, 22 South Greene St, N5W70, Baltimore, MD, 21201, USA,

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http://dx.doi.org/10.1007/s11060-013-1293-1DOI Listing
January 2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

Orphanet J Rare Dis 2014 Jan 28;9:15. Epub 2014 Jan 28.

Division of Neurology, Department of Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada.

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http://dx.doi.org/10.1186/1750-1172-9-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937150PMC
January 2014

Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

Eur J Hum Genet 2013 Nov 27;21(11):1232-9. Epub 2013 Feb 27.

1] Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada [2] Genetics and Health Cluster, Child and Family Research Institute, BC Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1038/ejhg.2013.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3798831PMC
November 2013

Medications in the first trimester of pregnancy: most common exposures and critical gaps in understanding fetal risk.

Pharmacoepidemiol Drug Saf 2013 Sep 29;22(9):1013-8. Epub 2013 Jul 29.

Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1002/pds.3495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3996804PMC
September 2013

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns.

Mol Genet Genomic Med 2013 Jul 21;1(2):87-97. Epub 2013 May 21.

Centre de Recherche du CHU de Québec-Hôpital St-François d'Assise Québec, Québec City, Canada ; Department of Molecular Biology, Medical Biochemistry, and Pathology, Université Laval Québec, Québec City, Canada.

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http://dx.doi.org/10.1002/mgg3.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865573PMC
July 2013

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: a retrospective clinical study.

Joint Bone Spine 2013 May 26;80(3):315-9. Epub 2012 Sep 26.

Institute of Clinical Chemistry, Medicine, University Hospital Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1016/j.jbspin.2012.07.010DOI Listing
May 2013

Safe lists for medications in pregnancy: inadequate evidence base and inconsistent guidance from Web-based information, 2011.

Pharmacoepidemiol Drug Saf 2013 Mar 29;22(3):324-8. Epub 2013 Jan 29.

Rollins School of Public Health, Emory University, Atlanta, GA, USA.

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http://dx.doi.org/10.1002/pds.3410DOI Listing
March 2013

"I want to know what's in Pandora's Box": comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.

Am J Med Genet A 2012 Oct 17;158A(10):2519-25. Epub 2012 Aug 17.

The W. Maurice Young Centre for Applied Ethics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35554DOI Listing
October 2012

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2606-9. Epub 2012 Aug 17.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35568DOI Listing
October 2012

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects.

Authors:
Jan M Friedman

Birth Defects Res A Clin Mol Teratol 2012 Aug 11;94(8):670-6. Epub 2012 Jul 11.

Department of Medical Genetics, University of British Columbia, Child and Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/bdra.23043DOI Listing
August 2012

OTIS special issue preface.

Birth Defects Res A Clin Mol Teratol 2012 Aug 27;94(8):569. Epub 2012 Jul 27.

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http://dx.doi.org/10.1002/bdra.23069DOI Listing
August 2012

Beyond the patient: the broader impact of genetic discrimination among individuals at risk of Huntington disease.

Am J Med Genet B Neuropsychiatr Genet 2012 Mar 9;159B(2):217-26. Epub 2012 Jan 9.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.b.32016DOI Listing
March 2012

Using genomics for birth defects epidemiology: can epigenetics cut the GxE Gordian knot?

Authors:
Jan M Friedman

Birth Defects Res A Clin Mol Teratol 2011 Dec 3;91(12):986-9. Epub 2011 Dec 3.

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http://dx.doi.org/10.1002/bdra.22875DOI Listing
December 2011

S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas.

J Neurosci Res 2011 Sep 14;89(9):1451-60. Epub 2011 Jun 14.

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/jnr.22654DOI Listing
September 2011

Emerging issues in teratology: an introduction.

Am J Med Genet C Semin Med Genet 2011 Aug 15;157C(3):147-9. Epub 2011 Jul 15.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1002/ajmg.c.30305DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681489PMC
August 2011

Empirical development of improved diagnostic criteria for neurofibromatosis 2.

Genet Med 2011 Jun;13(6):576-81

Department of Medical Genetics, University of British Columbia and the Child & Family Research Institute, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1097/GIM.0b013e318211faa9DOI Listing
June 2011

Maternal treatment with opioid analgesics and risk for birth defects.

Am J Obstet Gynecol 2011 Apr 23;204(4):314.e1-11. Epub 2011 Feb 23.

Epidemic Intelligence Service, Office of Workforce and Career Development, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S000293781002524
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http://dx.doi.org/10.1016/j.ajog.2010.12.039DOI Listing
April 2011

Patterns of antidepressant medication use among pregnant women in a United States population.

J Clin Pharmacol 2011 Feb 27;51(2):264-70. Epub 2010 Jul 27.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E-86, Atlanta, GA 30333, USA.

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http://dx.doi.org/10.1177/0091270010373928DOI Listing
February 2011

Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease.

Am J Med Genet B Neuropsychiatr Genet 2011 Jan 10;156B(1):19-27. Epub 2010 Nov 10.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.b.31130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860279PMC
January 2011

A different approach to validating screening assays for developmental toxicity.

Birth Defects Res B Dev Reprod Toxicol 2010 Dec;89(6):526-30

Procter & Gamble, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1002/bdrb.20276DOI Listing
December 2010

The principles of teratology: are they still true?

Authors:
Jan M Friedman

Birth Defects Res A Clin Mol Teratol 2010 Oct;88(10):766-8

Department of Medical Genetics, University of British Columbia, and Child & Family Research Institute, Children’s & Women’s Hospital, 4500 Oak Street, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/bdra.20697DOI Listing
October 2010

Prevalence of dental caries in children with neurofibromatosis 1.

Clin Oral Investig 2010 Aug 5;14(4):479-80; author reply 480. Epub 2010 Jan 5.

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http://dx.doi.org/10.1007/s00784-009-0361-6DOI Listing
August 2010

Maternal use of bupropion and risk for congenital heart defects.

Am J Obstet Gynecol 2010 Jul 24;203(1):52.e1-6. Epub 2010 Apr 24.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/j.ajog.2010.02.015DOI Listing
July 2010

Value for money? Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.

Am J Hum Genet 2010 May 15;86(5):765-72. Epub 2010 Apr 15.

National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/j.ajhg.2010.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869008PMC
May 2010

Impact of BRCA mutations on female fertility and offspring sex ratio.

Am J Hum Biol 2010 Mar-Apr;22(2):201-5

Department of Epidemiology and Biostatistics, School of Public Health, State University of New York at Albany, 1 Discovery Drive, Rensselaer, NY 12144, USA.

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http://dx.doi.org/10.1002/ajhb.20978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739697PMC
April 2010

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

Eur J Med Genet 2009 Nov-Dec;52(6):436-9. Epub 2009 Sep 17.

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.006DOI Listing
February 2010

Clinical and genetic aspects of neurofibromatosis 1.

Genet Med 2010 Jan;12(1):1-11

Department of Medical Genetics, University of British Columbia, British Columbia, Canada.

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http://dx.doi.org/10.1097/GIM.0b013e3181bf15e3DOI Listing
January 2010

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.

Am J Med Genet A 2009 Nov;149A(11):2393-402

Collaboration for Outcomes Research and Evaluation (CORE), Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33050DOI Listing
November 2009

Safety of selective serotonin reuptake inhibitors in pregnancy.

CNS Drugs 2009 ;23(6):493-509

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.2165/00023210-200923060-00004DOI Listing
August 2009

Big risks in small groups: The difference between epidemiology and counselling.

Authors:
Jan M Friedman

Birth Defects Res A Clin Mol Teratol 2009 Aug;85(8):720-4

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/bdra.20606DOI Listing
August 2009

Massively parallel sequencing: the next big thing in genetic medicine.

Am J Hum Genet 2009 Aug;85(2):142-54

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2009.06.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725244PMC
August 2009

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies.

Am J Med Genet A 2009 Jun;149A(6):1257-62

Department of Medical Genetics, University of British Columbia, Children's and Women's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32827DOI Listing
June 2009

Use of Affymetrix mapping arrays in the diagnosis of gene copy number variation.

Curr Protoc Hum Genet 2008 Oct;Chapter 8:Unit 8.13

Genome Sciences Centre, BC Cancer Agency, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/0471142905.hg0813s59DOI Listing
October 2008

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1.

Neuro Oncol 2008 Aug 17;10(4):593-8. Epub 2008 Jun 17.

Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1215/15228517-2008-011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2666233PMC
August 2008

Use of selective serotonin-reuptake inhibitors in pregnancy and the risk of birth defects.

N Engl J Med 2007 Jun;356(26):2684-92

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1056/NEJMoa066584DOI Listing
June 2007