Department of Medical Genetics, University of British Columbia
Medical Genetics Research Unit
Children’s & Women’s Hospital
Professor
Rm C333
4500 Oak Street
Vancouver, BC V6H 3N1

Research Interests: Clinical applications of genomic technology; birth defects epidemiology and clinical teratology; clinical studies of neurofibromatosis.

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas: (1) using advanced genomic technology to identify genetic causes of intellectual disability and other birth defects; (2) recognizing the harmful effects of medications taken by a pregnant woman on her developing embryo or fetus; and (3) studying the natural history and pathogenesis of neurofibromatosis 1, a clinically variable multisystem autosomal dominant disease.

Selected Publications:

In Press

Filges I, Friedman JM.  Exome sequencing for gene discovery in lethal fetal disorders – harnessing the value of extreme phenotypes.  Prenat Diagn (in press).

Filges I, Manokhina I, Peñaherrera MS, McFadden DE, Louie K, Nosova E, Friedman JM, Robinson WP.  Recurrent triploidy due to a failure to complete maternal Meiosis II: whole exome sequencing reveals candidate mutations.  Molec Human Reprod (in press).

2014

Tucker T, Zahir FR, Griffith M, Delaney A, Chai D, Tsang E, Lemyre E, Dobrzeniecka S, Marra M, Eydoux P, Langlois S, Hamdan FF, Michaud JL, Friedman JM. Single-Exon-Resolution Targeted Chromosomal MicroArray Analysis of Known and Candidate Intellectual Disability Genes. Eur J Hum Genet 22(6):792-800, 2014.

Filges I, Nosova E, Bruder E, Tercanli S, Townsend K, Gibson WT, Röthlisberger B, Heinimann K, Hall JG, Gregory-Evans CY, Wasserman WW, Miny P, Friedman JM. Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet 86(3):220-8, 2014.

McKinnon ML, Rozmus J, Fung S-Y, Hirschfeld AF, Del Bel K, Thomas L, Marr N, Martin S, Senger C, Tsang A, Prendiville J, Junker AK, Seear M, Schultz KR, Holt RA, Patel MS, Friedman JM, Turvey SE. Combined immunodeficiency associated with homozygous MALT1 mutations. J Allergy Clin Immun 133(5):1458-62, 2014.

Nguyen R, Jett K, Harris GJ, Cai W, Friedman JM, Mautner VF. Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1. J Neurooncol 116(2):307-13, 2014.

Demos MK, van Karnebeek CDM, Ross CJD, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones SJM, Friedman JM.  A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.  Orphanet J Rare Dis 9:15, 2014.

Beaulieu CL, Majewski J, Schwartzentruber J, Samuels ME, Fernandez BA, Bernier FP, Brudno M, Knoppers B, Marcadier J, Dyment D, Adam S, Bulman DE, Jones SJM, Avard D, Nguyen MT, Rousseau F, Marshall C, Wintle RF, Shen Y, Scherer SW, FORGE Canada Consortium, Friedman JM, Michaud JL, Boycott KM.  FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project.  Amer J Hum Genet 94(6):809-17, 2014.

Lohn Z, Adam S, Birch PH, Friedman JM.  Incidental findings from clinical genome-wide sequencing: A review.  J Genet Couns 23(4):463-73, 2014.

Plotkin SR, Albers AC, Babovic-Vuksanovic D, Blakeley JO, Breakefield XO, Dunn CM, Evans DG, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Kalamarides M, McClatchey AI, Messiaen L, Morrison H, Parkinson DB, Stemmer-Rachamimov AO, Van Raamsdonk CD, Riccardi VM, Rosser T, Schindeler A, Smith MJ, Stevenson DA, Ullrich NJ, van der Vaart T, Weiss B, Widemann BC, Zhu Y, Bakker AC, Lloyd AC.  Update from the 2013 International Neurofibromatosis Conference.  Amer J Med Genet A 164A(12):2969-78,2014.

Bove R, Alwan S, Friedman JM, Hellwig K, Houtchens M, Koren G, Lu E, McElrath T, Smyth P, Tremlett H, Sadovnick D. Management of multiple sclerosis during pregnancy and the reproductive years: A multidisciplinary review. Obstet Gynecol 124(6):1157-68, 2014.

Daston GP, Beyer BK, Carney EW, Chapin RE, Friedman JM, Piersma AH, Rogers JM, Scialli AR. Exposure-based validation list for developmental toxicity screening assays. Birth Defects Res B Dev Reprod Toxicol 101(6):423-8, 2014.

2013

Stevenson DA, Little D, Armstrong L, Crawford AH, Eastwood D, Friedman JM, Greggi T, Gutierrez G, Hunter-Schindeler K, Kendler DL, Kolanczyk M, Monsell F, Oetgen M, Richards BS, Schindeler A, Schorry EK, Whyte M, Wilkes D, Viskochil DH, Yang F-C, Elefteriou F.  Approaches to Treating NF1 Tibial Pseudarthrosis – Consensus from the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium.  J Pediatr Orthop 33(3):269-275, 2013.

Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA.  Survival among people with Down syndrome: a nationwide population-based study in Denmark.  Genet Med 15(1):G4-9, 2013.

Schnabel C, Jett K, Friedman JM, Frieling I, Kruse H-P, Mautner V.  Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study.  Joint Bone Spine 80(3):315-9, 2013.

Zhu JL, Hasle H, Correa A, Schendel D, Friedman JM, Olsen J, Rasmussen SA.  Hospitalizations among people with Down Sndrome: a nationwide population-based Study in Denmark.  Am J Med Genet A 161A(4):650-7, 2013.

Peters SL, Lind JN, Humphrey JR, Friedman JM, Honein MA, Tassinari MS, Moore CA, Mathis LL, Broussard CS.  Safe Lists for Medications in Pregnancy: Inadequate Evidence Base and Inconsistent Guidance from Web-based Information, 2011. Pharmacoepidemiol Drug Saf 22:324-8, 2013.

Tucker T, Giroux S, Clément V, Langlois S, Friedman JM, Rousseau F. Prevalence of selected genomic deletions and duplications in a population-based sample of newborns.  Molec Genet Genomic Med 1(2):87-97, 2013.

Armstrong L, Jett K, Brich P, Kendler DL, McKay H, Tsang E, Stevenson DA, Hanley DA, Egeli D, Burrows M, Friedman JM.  The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study. Am J Med Genet Part A 161A(7):1654-61, 2013.

Nguyen R, Mir T, Kluwe L, Jett K, Kentsch M, Mueller G, Kehrer-Sawatzki H, Friedman JM, Mautner VF.  Cardiac characterization of 16 patients with large NF1 gene deletions.  Clin Genet 84(4):344-9, 2013.

Dias C, McDonald A, Sincan M, Rupps R, Markello T, Salvarinova R, Santos R, Menghrajani K, Ahaghotu C, Kollman T, Demos M, Friedman JM, Speert DP, Boerkoel CF, Gahl WA.  Recurrent Subacute Post-viral Onset of Ataxia Associated with a PRF1 Mutation.  Eur J Hum Genet 21(11):1232-9, 2013.

Morris E, Inglis A, Friedman JM, Austin J. Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists. Genet Med 15(9):713-20, 2013.

Thorpe PG, Gilboa SM, Hernandez-Diaz S, Lind J, Cragan JD, Briggs G, Kweder S, Friedman JM, Mitchell AA, Honein MA, National Birth Defects Prevention Study.  Medications in the first trimester of pregnancy: Most common exposures and critical gaps in understanding fetal risk.  Pharmacoepidemiol Drug Saf 22(9):1013-8, 2013.

2012

Tsang E, Birch P, Friedman JM.  Valuing gene testing in children with possible neurofibromatosis 1.  Clin Genet. 82(6):591-3, 2012.

Bombard Y, Palin JA, Friedman JM, Veenstra G, Creighton S, Bottorff JL, Hayden MR, Canadian Respond-HD Collaborative Research Group.Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease. Neuropsych Genet. 159B(2):217-226, 2012.

Yang Q, Bailey L, Clarke R, Flanders WD, Liu T, Yesupriya A, Khoury MJ, Friedman JM.  Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults.  Am J Clin Nutr 95(5):1245-53, 2012.

Friedman JM.  ABCDXXX:  The obscenity of postmarketing surveillance for teratogenic effects.  Birth Defects Res A Clin Mol Teratol 94(8):670-6, 2012.

Townsend A, Adam S, Birch PH, Lohn Z, Rousseau F, Friedman JM.  “I want to know what’s in Pandora’s box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing.  Amer J Med Genet A 158A(10):2519-25, 2012.

Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, Langlois S, Friedman JM, Zahir FR.  Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome.  Am J Med Genet A 158A(10):2606-9, 2012.

Nguyen R, Dombi E, Widemann BC, Solomon J, Fuensterer C, Kluwe L, Friedman JM, Mautner VF.  Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1.  Orphanet J Rare Dis  7(1):75, 2012.

Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.  Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.  Am J Hum Genet 91(3):541-7, 2012.

2011

Alwan S, Reefhuis J, Rasmussen SA, Friedman JM and the National Birth Defects Prevention Study.  Patterns of antidepressant medication use among pregnant women in a US population.  J Clin Pharmacol 51(2):264-70, 2011.

Bombard Y, Palin J, Friedman JM, Veenstra G, Creighton S, Paulsen J, Bottorff J, Hayden MR, and the Canadian Respond – HD Collaborative Research Group.  Factors associated with experiences of genetic discrimination among individuals at risk for Huntington disease.  Amer J Med Genet B Neuropsychiatr Genet 156(1):19-27, 2011.

Smith M, Heran MKS, Connolly MB, Heran HK, Friedman JM, Jett K, Lyons CJ, Steinbok P, Armstrong L.  Cerebrovasculopathy in NF1 associated with ocular and scalp defects.  Am J Med Genet A 155:380-385, 2011.

Broussard CS, Rasmussen SA, Reefhius J, Friedman JM, Jan MW, Riehle-Colarusso T, Honein MA.  Maternal treatment with opioid analgesics and risk for birth defects.  Am J Obstet Gynecol 204(4):314.e1-11, 2011.

Baser ME, Friedman JM, Joe H, Shenton A, Wallace AJ, Ramsden RT, Evans DRG.  Empirical development of improved diagnostic criteria for NF2.  Genet Med 13(6):576-81, 2011.

Tucker T, Montpetit A, Chai D, Chan S, Chénier S, Coe BP, Delaney A, Eydoux P, Lam WL, Langlois S, Lemyre E, Marra M, Qian H, Rouleau GA, Vincent D, Michaud JL, Friedman JM.  Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.  BMC Medical Genomics 4:25, 2011.

Tucker T, Riccardi VM, Brown C, Fee J, Sutcliffe M, Wechsler J, Wolkenstein P, Friedman JM. S100B and neurofibromin immunostaining and X-inactivation patterns of laser microdissected cells indicate a multicellular origin of some NF1 associated neurofibromas. J Neurosci Res 89(9):1451-60, 2011.

Moore RA, Warren RL, Freeman JD, Gustavsen JA, Chenard C, Friedman JM, Suttle CA, Zhao Y, Holt RA.  The sensitivity of massively parallel sequencing for detecting candidate infections agents associated with human tissue.  PLOS One 6(5):e19838, 2011.

Tucker T, Riccardi VM, Sutcliffe M, Vielkind J, Wolkenstein P, Friedman JM.  Different patterns of mast cells distinguish diffuse from encapsulated neurofibromas in patients with neurofibromatosis 1.  J. Histochem Cytochem 59(6):584-90, 2011.

Friedman JM.  How do we know if an exposure is actually teratogenic in humans?  Amer J Med Genet C 157(3):170-174, 2011.

Adam MP, Polifka JE, Friedman JM.  Evolving knowledge of the teratogenicity of medications in human pregnancy.  Amer J Med Genet C 157(3):175-182, 2011.

Friedman JM.  Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot?  Birth Defects Res A Clin Mol Teratol. 91(12):986-9, 2011.

2010

Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12(1):1-11, 2010.

Moslehi R, Singh R, Lessner LL, Friedman JM. Impact of BRCA mutations on female fertility and offspring sex ratio. Am J Hum Biol 22(2):201-5, 2010.

Thienpont B, Béna F, Breckpot J, Philip N, Menton B, Van Esch H, Scalais E, Salamone JM, Fong C-T, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns J-P, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Chevive SW, Devrienot K.  Duplications of the critical Rubinstein Taybi deletion region on chromosome 16p13.3 cause a novel recognizable syndrome.  J Med Genet 47(3):155-61, 2010.

Tsang E, Birch P, Friedman JM, Johnston D, Tucker T, Armstrong L.  Prevalence of dental caries in children with neurofibromatosis 1.  Clin Oral Invest 14(4):479-80, 2010.

Alwan S, Reefhuis J, Botto LD, Rasmussen SA, Correa A, Friedman JM and the National Birth Defects Prevention Study.  Maternal Use of bupropion and risk for congenital heart defects. Am J Obstet Gynec 203(1):52.e1-6, 2010.

Regier DA, Friedman JM, Marra CA.  Value for money?  Array genomic hybridization for diagnostic testing for genetic causes of intellectual disability.  AM J Hum Genet 86(5):765-72, 2010.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH.  Consensus statement on chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies.  Am J Hum Genet 86(5):749-64, 2010.

Friedman JM.  The Principles of Teratology: are they still true?  Birth Defects Res Part A Clin Molec Teratol 88(10):766-8, 2010.

Daston GP, Chapin RE, Scialli AR, Pisersma AH, Carney EW, Rogers JM, Friedman JM.  A different approach to validating screening assays for developmental toxicity.  Birth Defects Res Part B Dev Repro Toxicol 89:526-30, 2010.

2009

Friedman JM, Adam S, Arbour L, Armstrong L, Baross A, Birch P, Boerkoel C, Chan S, Chai D, Delaney AD, Flibotte S, Gibbon WT, Langlois S, Lemyre E, Li HI, MacLeod P, Mathers J, Michaud JL, McGillivray BC, Patel MS, Qian H, Rouleau GA, Van Allen MI, Yong S-L, Zahir FR, Eydoux P, Marra MA. Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500K SNP array genomic hybridization. BMC Genomics 10:526, 2009.

Lehman A, Friedman JM, Chai D, Zahir F, Marra M, Prisman L, Tsang E, Eydoux P, Armstrong L. A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7. Europ J Med Genet 52(6):436-9, 2009.

Makela NL, Birch PH, Friedman JM, Marra CA. Parental perceived value of a diagnosis for intellectual disability (II): A qualitative comparison of families with and without a diagnosis for their child’s ID. Amer J Med Genet A 149A(11):2393-402, 2009.

Elefteriou F, Kolanczyk M, Schindeler A, Viskochil DH, Hock JM, Schorry EK, Crawford AH, Friedman JM, Little D, Peltonen J, Carey JC, Feldman D, Yu X, Armstrong L, Birch P, Kendler DL, Mundlos S, Yang F-C, Agiostratidou G, Hunter-Schaedle K, Stevenson DA. Skeletal anomalies in neurofibromatosis type 1: Approaches to therapeutic options. Amer J Med Genet A 149A(10):2327-38, 2009.

Tucker T, Marra M, Friedman JM. Massively parallel sequencing – the next big thing in genetic medicine. Am J Hum Genet 85(2):142-154, 2009.

Friedman JM. Big risks in small groups: The difference between epidemiology and counseling. Birth Defects Res A Clin Mol Teratol 85(8): 720-4, 2009.

Yang Q, Bostick RM, Friedman JM, Flanders WD. Serum folate and cancer mortality among U.S. adults. Findings from the third National Health and Nutrition Examination Survey Linked Mortality File. Cancer Epidemiol Biomarkers Prev 18(5): 1439-47, 2009.

Regier DA, Friedman JM, Makela N, Ryan M, Marra CA. Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: Willingness to pay from families of affected children. Clin Genet 75(6):514-521, 2009.

Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR, and the Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among persons at-risk for Huntington disease: A cross-sectional survey. Brit Med J 338:B2175, 2009.

Zahir FR, Langlois S, Gall K, Eydoux P, Marra MA, Friedman JM. A Novel De Novo 1.1Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies. Am J Med Genet A. 149A(6):1257-62, 2009.

Tucker T, Schnabel C, Hartmann M, Friedrich RE, Frieling I, Kruse H-P, Mautner V-F, Friedman JM. Bone health and fracture rate in individuals with NF1. J Med Genet 46:259-65, 2009.

Friedman JM: High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 29(1): 20-8, 2009.

Tucker T, Friedman JM, Friedrich RE, Fünsterer C, Mautner V-F: Longitudinal study of Neurofibromatosis 1 associated plexiform Neurofibromas. J Med Genet 46: 81-85, 2009.

Alwan S, Friedman JM: Safety of selective seratonin re-uptake inhibitors in pregnancy. CNS Drugs 23(6): 493-509, 2009.

2008

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, OFDI Collaborative Group (114 Collarborators including J M Friedman): Mutational Spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients. Hum Mutat 29(10): 1237-46, 2008.

Yang Q-H, Botto LD, Gallagher M, Friedman JM, Sanders CL, Koontz D, Nikolova S, Erickson JD, Steinberg K: Prevalence and effects of gene-gene and gene-nutrient interactions on serum folate and serum total homocysteine concentrations in the United States: findings from the Third National Health and Nutrition Examination Survey DNA Bank. Am J Clin Nutr 88(1): 232-46, 2008.

Chambers CD, Polifka JE, Friedman JM. Drug safety in pregnant women and their babies: Ignorance not bliss. Clin Pharmacol Ther 83(1): 181-3, 2008.

Matuner V-F, Asuagbor FA, Dombi E, Fünsterer C, Kluwe L, Wenzel R, Widemann BC, Friedman JM. Assessment of Benign Tumour Burden by Whole-Body MRI in Patients with Neurofibromatosis 1. Neuro Oncol 10(4): 593-8, 2008.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman JM, Ketelaars CEJ, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicholson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 82(2): 477-488, 2008.

Zahir F, Baross A, Delaney AD, Eydoux P, Fernandes NF, Pugh T, Marra M, Friedman JM. A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NFRXN1α. J Med Genet 45(4): 239-3, 2008.

Vincent JB, Choufani S, Horike S, Stachowiak B, Li M, Dill FJ, Marshall C, Hrynchak M, Carew E, Ukadik EKC, Friedman JM, Srivistava AK, Scherer SW. A translocation t(6;7)(p11-12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints. Psych Genet 18(3):101-9, 2008.

2007

Baross A, Delaney AD, Li HI, Nayar T, Flibotte S, Qian H, Chan SY, Asano J, Ally A, Cao M, Birch P, Brown-John M, Fernandes N, Go A, Kennedy G, Langlois S, Eydoux P, Friedman JM, Marra MA. Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data. BMC Bioinformatics. 8:368, 2007.

Tucker T, Birch P, Savoy DM, Friedman JM. Increased dental caries in people with neurofibromatosis 1. Clin Genet 72(6):524-7, 2007.

Lammert M, Friedrich RE, Friedman JM, Mautner VF, Tucker T. Early primary tooth eruption in neurofibromatosis 1 individuals. Eur J Oral Sci 115(5):425-6, 2007.

Zahir F, Friedman JM. The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility. Clin Genet 72(4):271-87, 2007.

Zahir F, Firth HV, Baross A, Delaney AD, Eydoux P, Gibson WT, Langlois S, Martin H, Willat L, Marra M, Friedman JM. Novel deletions of 14q11.2 associated with mental retardation, cognitive impairment and similar minor anomalies in three children. J Med Genet 44(9):556-61, 2007.

Alwan S, Reefhuis J, Rasmussen SA, Olney RS, Friedman JM, and the National Birth Defects Prevention Study. Serotonin reuptake inhibitor use in pregnancy and the risk for birth defects. N Engl J Med 356(26):2684-92, 2007.

Stevenson DA, Viskochil DH, Schorry EK, Crawford AH, D’Astous J, Murray K, Friedman JM, Armstrong LL, Carey JC. The use of anterolateral bowing of the lower leg in the diagnosis criteria for neurofibromatosis type 1. Genet Med 9(7):409-12, 2007.

Menten B, Buysse K, Zahir F, Hellemans J, Hamilton SJ, Costa T, Fagerstrom C, Anadiotis G, Kingsbury D, McGillivray BC, Marra MA, Friedman JM, Speleman F, Mortier GR. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 44(4):264-8, 2007.

Robinson WP, McGillivray B, Friedman JM. Pregnancy and postnatal outcome of mosaic isochromosome 20q. Prenat Diagn, 27(1): 143-5, 2007.

2006

Kenneson A, Kolor K, Yang Q, Olney RS, Rasmussen SA, Friedman JM. Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: An analysis of multiple cause mortality data. Am J Med Genet A. 140(21): 2289-97, 2006.

Friedman JM, Baross A, Delaney AD, Ally A, Arbour L, Armstrong LL, Asano J, Bailey DK, Barber S, Birch P, Brown-John M, Cao M, Chan S, Charest DL, Farnoud N, Fernandes N, Flibotte S, Go A, Gibson WT, Holt RA, Jones SJM, Kennedy GC, Krzywinski M, Langlois S, Li HI, McGillivray BC, Nayar T,Pugh TJ, Rajcan-Separovic E, Schein JE, Schnerch A, Siddiqui A, Van Allen MI, Wilson G, Yong S-L, Zahir F, Eydoux P, Marra MA. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet, 79(3): 500-13. 2006.

Cregan JD, Friedman JM, Holmes LB, Uhl K, Green N, Riley L. Ensuring the safe and effective use of medications during pregnancy: Planning and prevention through preconception care. Matern Child Health J 2006 Jul 19; 10Suppl7:129-135, 2006.

Cregan JD, Friedman JM, Holmes LB, Uhl K, Green N, Riley L. Ensuring the safe and effective use of medications during pregnancy: Planning and prevention through preconception care. Matern Child Health J 10 (Suppl 7):129-135, 2006.

Lammert M, Friedman JM, Roth HJ, Friedrich RE, Kluwe L, Atkins D, SchoolerT, Mautner V-F. Vitamin D Deficiency Associated with Number of Neurofibromas in Neurofibromatosis 1. J Med Genet 43(10):810-813, 2006.

Yang Q, Botto LD, Erickson JD, Berry RJ, Sambell C, Johansen H, Friedman JM. Improvement in stroke mortality in Canada and United States, 1990-2002. Circulation 113:1335-1343, 2006.

Rasmussen SA, Wong L-Y, Correa A, Gambrell D, Friedman JM. Survival of infants with Down syndrome, metropolitan Atlanta, 1979-1998. J Pediatr 148:806-812, 2006.

Baser ME, Friedman JM, Evans DRG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 66(5):730-2, 2006.

2005

McKay DB, Josephson MA, Armenti VT, August P, Coscia LA, Davis CL, Davidson JM, Easterling T, Friedman JM, Hou S, Karlix J, Lake KD, Lindheimer M, Matas A, Moritz MJ, Reilly CA, Ross LF, Scott JR, Wagoner LE, Wrenshal L. Reproduction and transplantation: Report on the AST consensus conference on reproductive issues and transplantation. Am J Transplant 5(7):1592-9, 2005.

Tyson C, Harvard C, Locker R, Friedman JM, Langlois S, Lewis MES, Van Allen M, Somerville M, Arbour L, Clarke L, McGillivray B, Yong S-L, Siegel-Bartel J, Rajcan-Separovic E. Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH. Am J Med Genet A 139(3):173-185, 2005.

Lammert M, Kappler M, Mautner V-F, Storkel S, Friedman JM, Atkins D. Decreased bone mineral density in patients with neurofibromatosis 1. Osteoporos Int 16(9):1161-1169, 2005.

Baser ME, Kuramoto L, Woods R, Joe H, Friedman JM, Wallace AJ, Ramsden RT, Olschwang S, Bijlsma E, Kalamarides M, Papi L, Kato R, Carroll J, Lazaro C, Johcourt F, Parry DM, Rouleau GA, Evans DRG. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with severity of NF2. J Med Genet 42(7):540-546, 2005.

Yang Q, Khory MJ, Friedman JM, Little J, Flanders WD. How many genes underlie the occurrence of common complex diseases in the population? Internat J Epidemiol 34(5):1129-1137, 2005.

Tucker T, Wolkenstein P, Revuz J, Zeller J, Friedman JM. Association of benign and malignant peripheral nerve sheath tumors in NF1. Neurology 65:205-211, 2005.

MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jarmillo D, Lev M, Mautner VM, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES. Diagnostic criteria for schwannomatosis. Neurology 64(11):1838-1845, 2005.

MacCollin M, Chiocca EA, Evans DG, Friedman JM, Horvitz R, Jarmillo D, Lev M, Mautner VM, Niimura M, Plotkin SR, Sang CN, Stemmer-Rachamimov A, Roach ES. Diagnostic criteria for schwannomatosis. Neurology 64(11):1838-1845, 2005.

Lee TK, Friedman JM. Analysis of NF1 transcriptional regulatory elements. Am J Med Genet A 137 (2): 130-5, 2005.

Alwan S, Tredwell SJ, Friedman JM. Is osseous dysplasia a primary or secondary feature of neurofibromatosis 1 (NF1)? Clin Genet 67(5):378-390, 2005.

Alwan S, Polifka JE, Friedman JM. Teratogen update: Angiotensin II receptor antagonist treatment during pregnancy. Birth Defects Res Part A Clin Mol Teratol 73(2):123-130, 2005.

Khosrotehrani K, Bastuji-Garin S, Riccardi VM, Birch P, Friedman JM, Wolkenstein P. Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients. Am J Med Genet 132A (1): 49-53, 2005.

Lammert M, Friedman JM, Kluwe L, Mautner V-F. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol 141 (1): 71-74, 2005.

Updated February 17th, 2010