Overview

I am a medical geneticist, and my research bridges clinical genetics and basic science. Our work is focused in three major areas:

Application of advanced genomic technology to identifying the causes of mental retardation;

Using genetic epidemiology - statistical analysis of large collections of clinical and genetic data and various other methods - to understand the disease processes in people with neurofibromatosis 1, a common genetic condition that leads to the development of benign and malignant tumours, cardiovascular disease and osteoporosis; and

Development and dissemination of authoritative information on human teratogenic risks (risks to embryonic or fetal development) resulting from maternal treatment with various medications during pregnancy.

Publications

Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy
Biophysical Journal
Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Marjon van Slegtenhorst, Sakkubai Naidu, Sonal Desai, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Matthew J. Farrer, Anita Datta, Mary B. Connolly, Michelle Demos, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Thomas Claydon
DOI: 10.1016/j.bpj.2017.11.702
02/2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
GENETICS in MEDICINE
Nick Dragojlovic, Alison M Elliott, Shelin Adam, Clara van Karnebeek, Anna Lehman, Jill C Mwenifumbo, Tanya N Nelson, Christèle du Souich, Jan M Friedman, Larry D Lynd
DOI: 10.1038/gim.2017.226
01/2018

Editorial In Bed with The Devil: Recognizing Human Teratogenic ExposuresIn Bed with The Devil: Recognizing Human Teratogenic Exposures
Birth Defects Research
Jan M. Friedman
DOI: 10.1002/bdr2.1134
11/2017

Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy
American Journal of Medical Genetics Part A
My Linh Thibodeau, Colin H. Peters, Katelin N. Townsend, Yaoqing Shen, Glenda Hendson, Shelin Adam, Kathryn Selby, Patrick M. Macleod, Cynthia Gershome, Peter Ruben, Steven J. M. Jones, Jan M. Friedman, William T. Gibson, Gabriella A. Horvath, the FORGE Canada Consortium
DOI: 10.1002/ajmg.a.38400
09/2017

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
The American Journal of Human Genetics
Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary B. Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Thomas Claydon, Shelin Adam, Christèle du Souich, Alison M. Elliott, Anna Lehman, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Shelin Adam, Cyrus Boelman, Corneliu Bolbocean, Sarah E. Buerki, Tara Candido, Patrice Eydoux, Daniel M. Evans, William Gibson, Gabriella Horvath, Linda Huh, Tanya N. Nelson, Graham Sinclair, Tamsin Tarling, Eric B. Toyota, Katelin N. Townsend, Margot I. Van Allen, Clara van Karnebeek, Suzanne Vercauteren
DOI: 10.1016/j.ajhg.2017.05.016
07/2017

Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
BMC Genomics
Farah R. Zahir, Jill C. Mwenifumbo, Hye-Jung E. Chun, Emilia L. Lim, Clara D. M. Van Karnebeek, Madeline Couse, Karen L. Mungall, Leora Lee, Nancy Makela, Linlea Armstrong, Cornelius F. Boerkoel, Sylvie L. Langlois, Barbara M. McGillivray, Steven J. M. Jones, Jan M. Friedman, Marco A. Marra
DOI: 10.1186/s12864-017-3671-0
05/2017

Non-optic glioma in adults and children with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer, Said Farschtschi, Marco Marangoni, Manraj K. S. Heran, Patricia Birch, Ralph Wenzel, Jan M. Friedman, Victor-Felix Mautner
DOI: 10.1186/s13023-017-0588-2
02/2017

Controversy and debate on clinical genomics sequencing—paper 2: clinical genome-wide sequencing: don't throw out the baby with the bathwater!
Journal of Clinical Epidemiology
Shelin Adam, Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.08.020
2017

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
Shelin Adam, Jan M. Friedman
DOI: 10.1016/j.jclinepi.2017.09.019
2017

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Martina A. Vortel, Shelin Adam, Ashley V. Port-Thompson, Jan M. Friedman, Stuart W. Grande, Patricia H. Birch
DOI: 10.1016/j.pec.2016.03.024
10/2016

Intragenic CNVs for epigenetic regulatory genes in intellectual disability: Survey identifies pathogenic and benign single exon changes
American Journal of Medical Genetics Part A
Farah R. Zahir, Tracy Tucker, Sonia Mayo, Carolyn J. Brown, Emilia L. Lim, Jonathan Taylor, Marco A. Marra, Fadi F. Hamdan, Jacques L. Michaud, Jan M. Friedman
DOI: 10.1002/ajmg.a.37669
10/2016

DECIDE: a Decision Support Tool to Facilitate Parents’ Choices Regarding Genome-Wide Sequencing
Journal of Genetic Counseling
Patricia Birch, S. Adam, N. Bansback, R. R. Coe, J. Hicklin, A. Lehman, K. C. Li, J. M. Friedman
DOI: 10.1007/s10897-016-9971-8
05/2016

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy: A Review of Current Evidence
CNS Drugs
Sura Alwan, Jan M. Friedman, Christina Chambers
DOI: 10.1007/s40263-016-0338-3
05/2016

Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide SequencingParents’ Perspective in Genome-Wide Sequencing
Journal of Nursing Scholarship
Karen C. Li, Patricia H. Birch, Bernard M. Garrett, Maura MacPhee, Shelin Adam, Jan M. Friedman
DOI: 10.1111/jnu.12207
04/2016

Low risk of solid tumors in persons with Down syndrome
Genetics in Medicine
Henrik Hasle, Jan M. Friedman, Jørgen H. Olsen, Sonja A. Rasmussen
DOI: 10.1038/gim.2016.23
03/2016

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?Fetal exome in the assessment of a dysmorphic of malformed fetus
Prenatal Diagnosis
Lyn S. Chitty, Jan M. Friedman, Sylvie Langlois
DOI: 10.1002/pd.4718
11/2015

Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
Journal of Medical Genetics
Adam Hexter, Adrian Jones, Harry Joe, Laura Heap, Miriam J Smith, Andrew J Wallace, Dorothy Halliday, Allyson Parry, Amy Taylor, Lucy Raymond, Adam Shaw, Shazia Afridi, Rupert Obholzer, Patrick Axon, Andrew T King, Jan M Friedman, D Gareth R Evans, The English Specialist NF2 Research Group
DOI: 10.1136/jmedgenet-2015-103290
08/2015

Growth in neurofibromatosis 1 microdeletion patientsGrowth in neurofibromatosis 1 microdeletion patients
Clinical Genetics
X. Ning, S. Farschtschi, A. Jones, H. Kehrer-Sawatzki, V.-F. Mautner, J. M. Friedman
DOI: 10.1111/cge.12632
07/2015

Specific SSRIs and birth defects: bayesian analysis to interpret new data in the context of previous reports
BMJ
Jennita Reefhuis, Owen Devine, Jan M Friedman, Carol Louik, Margaret A Honein
DOI: 10.1136/bmj.h3190
07/2015

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Shelin Adam, Jan M. Friedman
DOI: 10.1038/gim.2015.82
06/2015

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Journal of Medical Genetics
Kym Boycott, Taila Hartley, Shelin Adam, Francois Bernier, Karen Chong, Bridget A Fernandez, Jan M Friedman, Michael T Geraghty, Stacey Hume, Bartha M Knoppers, Anne-Marie Laberge, Jacek Majewski, Roberto Mendoza-Londono, M Stephen Meyn, Jacques L Michaud, Tanya N Nelson, Julie Richer, Bekim Sadikovic, David L Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma'n H Zawati, Julie Lauzon, Christine M Armour
DOI: 10.1136/jmedgenet-2015-103144
05/2015

Genetic Mosaics and the Germ Line Lineage
Genes
Mark Samuels, Jan Friedman
DOI: 10.3390/genes6020216
04/2015

Quantitative associations of scalp and body subcutaneous neurofibromas with internal plexiform tumors in neurofibromatosis 1
American Journal of Medical Genetics Part A
Kimberly Jett, Rosa Nguyen, Darian Arman, Patricia Birch, Harleen Chohan, Said Farschtschi, Carsten Fuensterer, Lan Kluwe, Jan M. Friedman, Victor F. Mautner
DOI: 10.1002/ajmg.a.37068
04/2015

Antineoplastic drugs
Drugs During Pregnancy and Lactation
Jan M. Friedman, Corinna Weber-Schöndorfer
DOI: 10.1016/b978-0-12-408078-2.00014-7
2015

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project
The American Journal of Human Genetics
Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, Francois P. Bernier, Michael Brudno, Bartha Knoppers, Janet Marcadier, David Dyment, Shelin Adam, Dennis E. Bulman, Steve J.M. Jones, Denise Avard, Minh Thu Nguyen, Francois Rousseau, Christian Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott
DOI: 10.1016/j.ajhg.2014.05.003
06/2014

Management of Multiple Sclerosis During Pregnancy and the Reproductive YearsA Systematic Review
Obstetrics & Gynecology
Riley Bove, Sura Alwan, Jan M. Friedman, Kerstin Hellwig, Maria Houtchens, Gideon Koren, Ellen Lu, Thomas F. McElrath, Penelope Smyth, Helen Tremlett, A. Dessa Sadovnick
DOI: 10.1097/aog.0000000000000541
2014

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Orphanet Journal of Rare Diseases
Michelle K Demos, Clara DM van Karnebeek, Colin JD Ross, Shelin Adam, Yaoqing Shen, Shing Hei Zhan, Casper Shyr, Gabriella Horvath, Mohnish Suri, Alan Fryer, Steven JM Jones, Jan M Friedman, the FORGE Canada Consortium
DOI: 10.1186/1750-1172-9-15
2014

Clinical Teratology
Reference Module in Biomedical Sciences
J.M. Friedman, J.W. Hanson
DOI: 10.1016/b978-0-12-801238-3.05509-4
2014

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes
European Journal of Human Genetics
Tracy Tucker, Farah R Zahir, Malachi Griffith, Allen Delaney, David Chai, Erica Tsang, Emmanuelle Lemyre, Sylvia Dobrzeniecka, Marco Marra, Patrice Eydoux, Sylvie Langlois, Fadi F Hamdan, Jacques L Michaud, Jan M Friedman
DOI: 10.1038/ejhg.2013.248
11/2013

Benign whole body tumor volume is a risk factor for malignant peripheral nerve sheath tumors in neurofibromatosis type 1
Journal of Neuro-Oncology
Rosa Nguyen, Kimberly Jett, Gordon J. Harris, Wenli Cai, Jan M. Friedman, Victor-Felix Mautner
DOI: 10.1007/s11060-013-1293-1
10/2013

Paternalism and the ACMG recommendations on genomic incidental findings: patients seen but not heard
Genetics in Medicine
Anne Townsend, Shelin Adam, Patricia H. Birch, Jan M. Friedman
DOI: 10.1038/gim.2013.105
09/2013

Prevalence of selected genomic deletions and duplications in a French-Canadian population-based sample of newborns
Molecular Genetics & Genomic Medicine
Tracy Tucker, Sylvie Giroux, Valérie Clément, Sylvie Langlois, Jan M. Friedman, François Rousseau
DOI: 10.1002/mgg3.12
05/2013

The generalized bone phenotype in children with neurofibromatosis 1: A sibling matched case-control study
American Journal of Medical Genetics Part A
Linlea Armstrong, Kimberly Jett, Patricia Birch, David L. Kendler, Heather McKay, Erica Tsang, David A. Stevenson, David A. Hanley, Deetria Egeli, Melonie Burrows, J.M. Friedman
DOI: 10.1002/ajmg.a.36001
05/2013

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study
Joint Bone Spine
Claudia Schnabel, Kimberly Jett, Jan M. Friedman, Isolde Frieling, Hans-Peter Kruse, Victor Mautner
DOI: 10.1016/j.jbspin.2012.07.010
05/2013

Incidental Findings from Clinical Genome-Wide Sequencing: A Review
Journal of Genetic Counseling
Z. Lohn, S. Adam, P. H. Birch, J. M. Friedman
DOI: 10.1007/s10897-013-9604-4
05/2013

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing
European Journal of Human Genetics
Anne Townsend, Francois Rousseau, Jan Friedman, Shelin Adam, Zoe Lohn, Patricia Birch
DOI: 10.1038/ejhg.2013.94
05/2013

Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists
Genetics in Medicine
Emily Morris, Angela Inglis, Jan Friedman, Jehannine Austin
DOI: 10.1038/gim.2013.31
04/2013

Hospitalizations among people with Down syndrome: A nationwide population-based study in Denmark
American Journal of Medical Genetics Part A
Jin Liang Zhu, Henrik Hasle, Adolfo Correa, Diana Schendel, J.M. Friedman, Jørn Olsen, Sonja A. Rasmussen
DOI: 10.1002/ajmg.a.35711
02/2013

Genetics professionals' perspectives on reporting incidental findings from clinical genome-wide sequencing
American Journal of Medical Genetics Part A
Zoe Lohn, Shelin Adam, Patricia Birch, Anne Townsend, Jan Friedman
DOI: 10.1002/ajmg.a.35794
02/2013

Approaches to Treating NF1 Tibial PseudarthrosisConsensus From the Children’s Tumor Foundation NF1 Bone Abnormalities Consortium
Journal of Pediatric Orthopaedics
David A. Stevenson, David Little, Linlea Armstrong, Alvin H. Crawford, Deborah Eastwood, Jan M. Friedman, Tiziana Greggi, Gloria Gutierrez, Kim Hunter-Schaedle, David L. Kendler, Mateusz Kolanczyk, Fergal Monsell, Matthew Oetgen, B. Stephens Richards, Aaron Schindeler, Elizabeth K. Schorry, David Wilkes, David H. Viskochil, Feng-Chun Yang, Florent Elefteriou
DOI: 10.1097/bpo.0b013e31828121b8
2013

Clinical Teratology
Emery and Rimoin's Principles and Practice of Medical Genetics
Jan M. Friedman and James W. Hanson
DOI: 10.1016/b978-0-12-383834-6.00044-6
2013

Quality of Life in NF1
Neurofibromatosis Type 1
Patricia Birch and J. M. Friedman
DOI: 10.1007/978-3-642-32864-0_8
11/2012

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
The American Journal of Human Genetics
M. Chiara Manzini, Dimira E. Tambunan, R. Sean Hill, Tim W. Yu, Thomas M. Maynard, Erin L. Heinzen, Kevin V. Shianna, Christine R. Stevens, Jennifer N. Partlow, Brenda J. Barry, Jacqueline Rodriguez, Vandana A. Gupta, Abdel-Karim Al-Qudah, Wafaa M. Eyaid, Jan M. Friedman, Mustafa A. Salih, Robin Clark, Isabella Moroni, Marina Mora, Alan H. Beggs, Stacey B. Gabriel, Christopher A. Walsh
DOI: 10.1016/j.ajhg.2012.07.009
09/2012

Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
American Journal of Medical Genetics Part A
Erica Tsang, Rosemarie Rupps, Barbara McGillivray, Patrice Eydoux, Marco Marra, Laura Arbour, Sylvie Langlois, Jan M. Friedman, Farah R. Zahir
DOI: 10.1002/ajmg.a.35568
08/2012

“I want to know what's in Pandora's box”: Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
American Journal of Medical Genetics Part A
Anne Townsend, Shelin Adam, Patricia H. Birch, Zoe Lohn, Francois Rousseau, Jan M. Friedman
DOI: 10.1002/ajmg.a.35554
08/2012

Survival among people with Down syndrome: a nationwide population-based study in Denmark
Genetics in Medicine
Jin Liang Zhu, Henrik Hasle, Adolfo Correa, Diana Schendel, J.M. Friedman, Jørn Olsen, Sonja A. Rasmussen
DOI: 10.1038/gim.2012.93
08/2012

ABCDXXX: The obscenity of postmarketing surveillance for teratogenic effects
Birth Defects Research Part A: Clinical and Molecular Teratology
Jan M. Friedman
DOI: 10.1002/bdra.23043
07/2012

OTIS special issue preface
Birth Defects Research Part A: Clinical and Molecular Teratology
Christina Chambers, Jan M. Friedman
DOI: 10.1002/bdra.23069
07/2012

Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults
The American Journal of Clinical Nutrition
Quanhe Yang, Lynn Bailey, Robert Clarke, W Dana Flanders, Tiebin Liu, Ajay Yesupriya, Muin J Khoury, Jan M Friedman
DOI: 10.3945/ajcn.111.022384
04/2012

Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Yvonne Bombard, JoAnne Palin, Jan M. Friedman, Gerry Veenstra, Susan Creighton, Joan L. Bottorff, Michael R. Hayden, The Canadian Respond-HD Collaborative Research Group
DOI: 10.1002/ajmg.b.32016
01/2012

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Rosa Nguyen, Eva Dombi, Brigitte C Widemann, Jeffrey Solomon, Carsten Fuensterer, Lan Kluwe, Jan M Friedman, Victor-Felix Mautner
DOI: 10.1186/1750-1172-7-75
2012

Molecular Basis of Cardiovascular Abnormalities in NF1
Neurofibromatosis Type 1
Brian K. Stansfield, David A. Ingram, Simon J. Conway, Jan M. Friedman
DOI: 10.1007/978-3-642-32864-0_23
2012

Using genomics for birth defects epidemiology: Can epigenetics cut the GxE gordian knot?
Birth Defects Research Part A: Clinical and Molecular Teratology
Jan M. Friedman
DOI: 10.1002/bdra.22875
12/2011

Valuing gene testing in children with possible neurofibromatosis 1
Clinical Genetics
E Tsang, P Birch, JM Friedman
DOI: 10.1111/j.1399-0004.2011.01801.x
11/2011

Massively Parallel Sequencing
Molecular Analysis and Genome Discovery
Tracy Tucker, Marco Marra, Jan M. Friedman
DOI: 10.1002/9781119977438.ch6
10/2011

Reply
American Journal of Obstetrics and Gynecology
Cheryl S. Broussard, Sonja A. Rasmussen, Jan M. Friedman
DOI: 10.1016/j.ajog.2011.04.027
09/2011

How do we know if an exposure is actually teratogenic in humans?
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
J.M. Friedman
DOI: 10.1002/ajmg.c.30302
07/2011

Evolving knowledge of the teratogenicity of medications in human pregnancy
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Margaret P. Adam, Janine E. Polifka, J.M. Friedman
DOI: 10.1002/ajmg.c.30313
07/2011

Emerging issues in teratology: An introduction
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Sonja A. Rasmussen, Jan M. Friedman
DOI: 10.1002/ajmg.c.30305
07/2011

S100B and neurofibromin immunostaining and X-inactivation patterns of laser-microdissected cells indicate a multicellular origin of some NF1-associated neurofibromas
Journal of Neuroscience Research
Tracy Tucker, Vincent M. Riccardi, Carolyn Brown, John Fee, Margaret Sutcliffe, Juergen Vielkind, Janine Wechsler, Pierre Wolkenstein, Jan M. Friedman
DOI: 10.1002/jnr.22654
06/2011

The Sensitivity of Massively Parallel Sequencing for Detecting Candidate Infectious Agents Associated with Human Tissue
PLoS ONE
Richard A. Moore, René L. Warren, J. Douglas Freeman, Julia A. Gustavsen, Caroline Chénard, Jan M. Friedman, Curtis A. Suttle, Yongjun Zhao, Robert A. Holt
DOI: 10.1371/journal.pone.0019838
05/2011

Maternal treatment with opioid analgesics and risk for birth defects
American Journal of Obstetrics and Gynecology
Cheryl S. Broussard, Sonja A. Rasmussen, Jennita Reefhuis, Jan M. Friedman, Michael W. Jann, Tiffany Riehle-Colarusso, Margaret A. Honein
DOI: 10.1016/j.ajog.2010.12.039
04/2011

Different Patterns of Mast Cells Distinguish Diffuse from Encapsulated Neurofibromas in Patients with Neurofibromatosis 1
Journal of Histochemistry & Cytochemistry
Tracy Tucker, Vincent M. Riccardi, Margaret Sutcliffe, Juergen Vielkind, Janine Wechsler, Pierre Wolkenstein, Jan M. Friedman
DOI: 10.1369/0022155411407340
04/2011

Empirical development of improved diagnostic criteria for neurofibromatosis 2
Genetics in Medicine
Michael E Baser, Jan M Friedman, Harry Joe, Andrew Shenton, Andrew J Wallace, Richard T Ramsden, D Gareth R Evans
DOI: 10.1097/gim.0b013e318211faa9
03/2011

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation
BMC Medical Genomics
Tracy Tucker, Alexandre Montpetit, David Chai, Susanna Chan, Sébastien Chénier, Bradley P Coe, Allen Delaney, Patrice Eydoux, Wan L Lam, Sylvie Langlois, Emmanuelle Lemyre, Marco Marra, Hong Qian, Guy A Rouleau, David Vincent, Jacques L Michaud, Jan M Friedman
DOI: 10.1186/1755-8794-4-25
03/2011

Patterns of Antidepressant Medication Use Among Pregnant Women in a United States Population
The Journal of Clinical Pharmacology
Sura Alwan, Jennita Reefhuis, Sonja A. Rasmussen, Jan M. Friedman, National Birth Defects Prevention Study
DOI: 10.1177/0091270010373928
02/2011

Factors associated with experiences of genetic discrimination among individuals at risk for huntington disease
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Yvonne Bombard, JoAnne Palin, Jan M. Friedman, Gerry Veenstra, Susan Creighton, Jane S. Paulsen, Joan L. Bottorff, Michael R. Hayden, The Canadian Respond-HD Collaborative Research Group
DOI: 10.1002/ajmg.b.31130
11/2010

A different approach to validating screening assays for developmental toxicity
Birth Defects Research Part B: Developmental and Reproductive Toxicology
George P. Daston, Robert E. Chapin, Anthony R. Scialli, Aldert H. Piersma, Edward W. Carney, John M. Rogers, Jan M. Friedman
DOI: 10.1002/bdrb.20276
11/2010

The principles of teratology: Are they still true?The Principles of Teratology
Birth Defects Research Part A: Clinical and Molecular Teratology
Jan M. Friedman
DOI: 10.1002/bdra.20697
08/2010

Maternal use of bupropion and risk for congenital heart defects
American Journal of Obstetrics and Gynecology
Sura Alwan, Jennita Reefhuis, Lorenzo D. Botto, Sonja A. Rasmussen, Adolfo Correa, Jan M. Friedman
DOI: 10.1016/j.ajog.2010.02.015
07/2010

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2010.04.006
PubMed: PMC2869000
05/2010

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability
The American Journal of Human Genetics
Dean A. Regier, Jan M. Friedman, Carlo A. Marra
DOI: 10.1016/j.ajhg.2010.03.009
05/2010

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Erica S. Tsang, Patricia Birch, Jan M. Friedman, Douglas Johnston, Tracy Tucker, Linlea Armstrong
DOI: 10.1007/s00784-009-0361-6
01/2010

Cerebrovasculopathy in NF1 associated with ocular and scalp defects
American Journal of Medical Genetics Part A
Matt Smith, Manraj K.S. Heran, Mary B. Connolly, Harindar K. Heran, J.M. Friedman, Kimberly Jett, Christopher J. Lyons, Paul Steinbok, Linlea Armstrong
DOI: 10.1002/ajmg.a.33788
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
American Journal of Medical Genetics Part A
Nancy L. Makela, Patricia H. Birch, Jan M. Friedman, Carlo A. Marra
DOI: 10.1002/ajmg.a.33050
11/2009

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7
European Journal of Medical Genetics
Anna M. Lehman, Jan M. Friedman, David Chai, Farah R. Zahir, Marco A. Marra, Larraine Prisman, Erica Tsang, Patrice Eydoux, Linlea Armstrong
DOI: 10.1016/j.ejmg.2009.09.006
11/2009

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
JM Friedman and Shelin Adam and Laura Arbour and Linlea Armstrong and Agnes Baross and Patricia Birch and Cornelius Boerkoel and Susanna Chan and David Chai and Allen D Delaney and Stephane Flibotte and William T Gibson and Sylvie Langlois and Emmanuelle Lemyre and H Irene Li and Patrick MacLeod and Joan Mathers and Jacques L Michaud and Barbara C McGillivray and Millan S Patel and Hong Qian and Guy A Rouleau and Margot I Van Allen and Siu-Li Yong and Farah R Zahir and Patrice Eydoux and Marco A Marra
DOI: 10.1186/1471-2164-10-526
11/2009

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics Part A
Florent Elefteriou, Mateusz Kolanczyk, Aaron Schindeler, David H. Viskochil, Janet M. Hock, Elizabeth K. Schorry, Alvin H. Crawford, Jan M. Friedman, David Little, Juha Peltonen, John C. Carey, David Feldman, Xijie Yu, Linlea Armstrong, Patricia Birch, David L. Kendler, Stefan Mundlos, Feng-Chun Yang, Gina Agiostratidou, Kim Hunter-Schaedle, David A. Stevenson
DOI: 10.1002/ajmg.a.33045
10/2009

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome
Journal of Medical Genetics
B. Thienpont, F. Bena, J. Breckpot, N. Philip, B. Menten, H. Van Esch, E. Scalais, J. M. Salamone, C.-T. Fong, J. L. Kussmann, D. K. Grange, J. L. Gorski, F. Zahir, S. L. Yong, M. M. Morris, S. Gimelli, J.-P. Fryns, G. Mortier, J. M. Friedman, L. Villard, A. Bottani, J. R. Vermeesch, S. W. Cheung, K. Devriendt
DOI: 10.1136/jmg.2009.070573
10/2009

Clinical and genetic aspects of neurofibromatosis 1
Genetics in Medicine
Kimberly Jett and Jan M Friedman
DOI: 10.1097/gim.0b013e3181bf15e3
08/2009

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
The American Journal of Human Genetics
Tracy Tucker, Marco Marra, Jan M. Friedman
DOI: 10.1016/j.ajhg.2009.06.022
08/2009

Impact of BRCA mutations on female fertility and offspring sex ratio
American Journal of Human Biology
Roxana Moslehi and Ranjana Singh and Lawrence Lessner and Jan M. Friedman
DOI: 10.1002/ajhb.20978
07/2009

Big risks in small groups: The difference between epidemiology and counselling
Birth Defects Research Part A: Clinical and Molecular Teratology
J. M. Friedman
DOI: 10.1002/bdra.20606
07/2009

A novel de novo 1.1 Mb duplication of 17q21.33 associated with cognitive impairment and other anomalies
American Journal of Medical Genetics Part A
Farah R. Zahir, Sylvie Langlois, Kim Gall, Patrice Eydoux, Marco A. Marra, Jan M. Friedman
DOI: 10.1002/ajmg.a.32827
06/2009

Valuing the benefit of diagnostic testing for genetic causes of idiopathic developmental disability: willingness to pay from families of affected children
Clinical Genetics
DA Regier, JM Friedman, N Makela, M Ryan, CA Marra
DOI: 10.1111/j.1399-0004.2009.01193.x
06/2009

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
BMJ
Y. Bombard, G. Veenstra, J. M Friedman, S. Creighton, L. Currie, J. S Paulsen, J. L Bottorff, M. R Hayden, the Canadian Respond-HD Collaborative Research Group
DOI: 10.1136/bmj.b2175
06/2009

Serum Folate and Cancer Mortality Among U.S. Adults: Findings from the Third National Health and Nutritional Examination Survey Linked Mortality File
Cancer Epidemiology Biomarkers & Prevention
Q. Yang, R. M. Bostick, J.M. Friedman, W. D. Flanders
DOI: 10.1158/1055-9965.epi-08-0908
05/2009

Safety of Selective Serotonin Reuptake Inhibitors in Pregnancy
CNS Drugs
Sura Alwan, Jan M. Friedman
DOI: 10.2165/00023210-200923060-00004
05/2009

High-resolution array genomic hybridization in prenatal diagnosis
Prenatal Diagnosis
J. M. Friedman
DOI: 10.1002/pd.2129
01/2009

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
T Tucker and C Schnabel and M Hartmann and R E Friedrich and I Frieling and H-P Kruse and V-F Mautner and J M Friedman
DOI: 10.1136/jmg.2008.061895
11/2008

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas
Journal of Medical Genetics
T Tucker, J M Friedman, R E Friedrich, R Wenzel, C Funsterer, V-F Mautner
DOI: 10.1136/jmg.2008.061051
11/2008

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
Human Mutation
Clelia Prattichizzo, Marina Macca, Valeria Novelli, Giovanna Giorgio, Adriano Barra, Brunella Franco, Oral-Facial-Digital Type I (OFDI) Collaborative Group
DOI: 10.1002/humu.20792
10/2008

Assessment of benign tumor burden by whole-body MRI in patients with neurofibromatosis 1
Neuro-Oncology
Victor-F. Mautner, Florence A. Asuagbor, Eva Dombi, Carsten Fu¨nsterer, Lan Kluwe, Ralf Wenzel, Brigitte C. Widemann, Jan M. Friedman
DOI: 10.1215/15228517-2008-011
08/2008

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
The American Journal of Clinical Nutrition
Quan-He Yang, Lorenzo D Botto, Margaret Gallagher, JM Friedman, Christopher L Sanders, Deborah Koontz, Stanimila Nikolova, J David Erickson, Karen Steinberg
DOI: 10.1093/ajcn/88.1.232
07/2008

A translocation t(6;7)(p11???p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpoints
Psychiatric Genetics
John B. Vincent, Sanaa Choufani, Shin-ichi Horike, Beata Stachowiak, Martin Li, Fred J. Dill, Christian Marshall, Monica Hrynchak, Elizabeth Pewsey, Kennedy C. Ukadike, Jan M. Friedman, Anand K. Srivastava, Stephen W. Scherer
DOI: 10.1097/ypg.0b013e3282f97df7
06/2008

Kallmann syndrome associated with choanal atresia
Clinical Genetics
Victor R. Klein, Jan M. Friedman, Gail S. Brookshire, Orval E. Brown, Clare D. Edman
DOI: 10.1111/j.1399-0004.1987.tb02800.x
06/2008

Umbilical dysmorphology. The importance of contemplating the Belly Button
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1985.tb00408.x
04/2008

Familial carcinoma of the pancreas*
Clinical Genetics
J. M. Friedman, Philip J. Fialkow
DOI: 10.1111/j.1399-0004.1976.tb01598.x
04/2008

An unusual connective tissue disease in mother and son: A “new” type of Ehlers-Danlos syndrome?
Clinical Genetics
J. M. Friedman, M. J. E. Harrod
DOI: 10.1111/j.1399-0004.1982.tb00958.x
04/2008

Binary developmental commitments in normal and abnormal human morphogenesis
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1980.tb01362.x
04/2008

The use of probability trees in genetic counselling
Clinical Genetics
J. M. Friedman, R. David Fish
DOI: 10.1111/j.1399-0004.1980.tb01784.x
04/2008

Genetic counseling for autosomal dominant diseases with a negative family history
Clinical Genetics
J. M. Friedman
DOI: 10.1111/j.1399-0004.1985.tb00186.x
04/2008

Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics
Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan Friedman, Cees E.J. Ketelaars, Yvonne J. Vos, Can Ficicioglu, Susan Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare A. Gibbons, Ahmad Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget Fernandez, Peter Szatmari, Stephen W. Scherer
DOI: 10.1016/j.ajhg.2007.12.009
02/2008

Immunogenetic studies of juvenile dermatomyositis
Tissue Antigens
J. M. Friedman, L. M. Pachman, M. L. Maryjowski, O. Jonasson, N. D. Battles, W. E. Crowe, C. W. Fink, V. Hanson, J. E. Levinson, C. H. Spencer, D. B. Sullivan
DOI: 10.1111/j.1399-0039.1983.tb00371.x
2008

Drug Safety in Pregnant Women and Their Babies: Ignorance Not Bliss
Clinical Pharmacology & Therapeutics
CD Chambers and JE Polifka and JM Friedman
DOI: 10.1038/sj.clpt.6100448
12/2007

Pregnancy and postnatal outcome of mosaic isochromosome 20q
Prenatal Diagnosis
W. P. Robinson and B. McGillivray and J. M. Friedman
DOI: 10.1002/pd.1636
12/2007

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 
Journal of Medical Genetics
F R Zahir and A Baross and A D Delaney and P Eydoux and N D Fernandes and T Pugh and M A Marra and J M Friedman
DOI: 10.1136/jmg.2007.054437
11/2007

Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data
BMC Bioinformatics
DOI: 10.1186/1471-2105-8-368
10/2007

Early primary tooth eruption in neurofibromatosis 1 individuals
European Journal of Oral Sciences
Marga Lammert, Reinhard E. Friedrich, Jan M. Friedman, Victor-Felix Mautner, Tracy Tucker
DOI: 10.1111/j.1600-0722.2007.00474.x
10/2007

Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
T Tucker, P Birch, DM Savoy, JM Friedman
DOI: 10.1111/j.1399-0004.2007.00886.x
08/2007

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility
Clinical Genetics
F Zahir, JM Friedman
DOI: 10.1111/j.1399-0004.2007.00847.x
08/2007

The use of anterolateral bowing of the lower leg in the diagnostic criteria for neurofibromatosis type 1
Genetics in Medicine
David A Stevenson, David H Viskochil, Elizabeth K Schorry, Alvin H Crawford, Jacques D'Astous, Kathleen A Murray, J M Friedman, Linlea Armstrong, John C Carey
DOI: 10.1097/gim.0b013e3180986e05
07/2007

Workshop report: evaluation of genetic and epigenetic risks associated with assisted reproductive technologies and infertility
Fertility and Sterility
Rosanna Weksberg, Cheryl Shuman, Louise Wilkins-Haug, Mellissa Mann, Mary Croughan, Donna Stewart, Catherine Rakowsky, Arthur Leader, Judith Hall, J.M. Friedman, Joe Leigh Simpson, Lewis Holmes, Claire Infante-Rivard
DOI: 10.1016/j.fertnstert.2006.11.114
07/2007

Use of Selective Serotonin-Reuptake Inhibitors in Pregnancy and the Risk of Birth Defects
New England Journal of Medicine
Sura Alwan, Jennita Reefhuis, Sonja A. Rasmussen, Richard S. Olney, Jan M. Friedman
DOI: 10.1056/nejmoa066584
06/2007

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children
Journal of Medical Genetics
F. Zahir, H. V Firth, A. Baross, A. D Delaney, P. Eydoux, W. T Gibson, S. Langlois, H. Martin, L. Willatt, M. A Marra, J. M Friedman
DOI: 10.1136/jmg.2007.050823
05/2007

Associations of osseous abnormalities in Neurofibromatosis 1
American Journal of Medical Genetics Part A
S. Alwan and L. Armstrong and H. Joe and P.H. Birch and J. Szudek and J.M. Friedman
DOI: 10.1002/ajmg.a.31754
05/2007

Race-ethnicity differences in folic acid intake in women of childbearing age in the United States after folic acid fortification: findings from the National Health and Nutrition Examination Survey, 2001–2002
The American Journal of Clinical Nutrition
Quan-He Yang, Heather K Carter, Joseph Mulinare, RJ Berry, JM Friedman, J David Erickson
DOI: 10.1093/ajcn/85.5.1409
05/2007

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
Journal of Medical Genetics
B. Menten, K. Buysse, F. Zahir, J. Hellemans, S. J Hamilton, T. Costa, C. Fagerstrom, G. Anadiotis, D. Kingsbury, B. C McGillivray, M. A Marra, J. M Friedman, F. Speleman, G. Mortier
DOI: 10.1136/jmg.2006.047860
04/2007

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983–1998: An analysis of multiple cause mortality data
American Journal of Medical Genetics Part A
Aileen Kenneson and Katherine Kolor and Quanhe Yang and Richard S. Olney and Sonja A. Rasmussen and J.M. Friedman
DOI: 10.1002/ajmg.a.31437
10/2006

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation
American Journal of Human Genetics
DOI: 10.1086/507471
PubMed: PMC1559542
09/2006

Ensuring the Safe and Effective Use of Medications During Pregnancy: Planning and Prevention Through Preconception Care
Maternal and Child Health Journal
Janet D. Cragan, J. M. Friedman, Lewis B. Holmes, Kathleen Uhl, Nancy S. Green, Laura Riley
DOI: 10.1007/s10995-006-0102-2
07/2006

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998
The Journal of Pediatrics
Sonja A. Rasmussen, Lee-Yang Wong, Adolfo Correa, Don Gambrell, J.M. Friedman
DOI: 10.1016/j.jpeds.2006.01.010
06/2006

Improvement in Stroke Mortality in Canada and the United States, 1990 to 2002
Circulation
Q. Yang
DOI: 10.1161/circulationaha.105.570846
03/2006

Increasing the specificity of diagnostic criteria for schwannomatosis
Neurology
M. E. Baser, J. M. Friedman, D. G. R. Evans
DOI: 10.1212/01.wnl.0000201190.89751.41
03/2006

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1
Journal of Medical Genetics
M Lammert, J M Friedman, H J Roth, R E Friedrich, L Kluwe, D Atkins, T Schooler, V-F Mautner
DOI: 10.1136/jmg.2006.041095
03/2006

Authors' response to a refinement to ‘how many genes underlie the occurrence of common complex diseases in the population?’ by Ramal Moonesinghe
International Journal of Epidemiology
QUANHE YANG and MUIN J KHOURY and J M FRIEDMAN and JULIAN LITTLE and WDANA FLANDERS
DOI: 10.1093/ije/dyi289
12/2005

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH
American Journal of Medical Genetics Part A
C. Tyson and C. Harvard and R. Locker and J.M. Friedman and S. Langlois and M.E.S. Lewis and M. Van Allen and M. Somerville and L. Arbour and L. Clarke and B. McGilivray and S.L. Yong and J. Siegel-Bartel and E. Rajcan-Separovic
DOI: 10.1002/ajmg.a.31015
11/2005

How many genes underlie the occurrence of common complex diseases in the population?
International Journal of Epidemiology
Quanhe Yang, Muin J Khoury, JM Friedman, Julian Little, W Dana Flanders
DOI: 10.1093/ije/dyi130
07/2005

Association between benign and malignant peripheral nerve sheath tumors in NF1
Neurology
T. Tucker, P. Wolkenstein, J. Revuz, J. Zeller, J. M. Friedman
DOI: 10.1212/01.wnl.0000168830.79997.13
07/2005

Analysis of NF1 transcriptional regulatory elements
American Journal of Medical Genetics Part A
Tsz Kin (Bernard) Lee and J.M. Friedman
DOI: 10.1002/ajmg.a.30699
07/2005

Reproduction and Transplantation: Report on the AST Consensus Conference on Reproductive Issues and Transplantation
American Journal of Transplantation
Dianne B. McKay, Michelle A. Josephson
DOI: 10.1111/j.1600-6143.2005.00969.x
07/2005

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2
Journal of Medical Genetics
M E Baser
DOI: 10.1136/jmg.2004.029504
07/2005

Decreased bone mineral density in patients with neurofibromatosis 1
Osteoporosis International
Marga Lammert, Martin Kappler, Victor-Felix Mautner, Kurt Lammert, Stephan Störkel, Jan M. Friedman, Derek Atkins
DOI: 10.1007/s00198-005-1940-2
06/2005

Diagnostic criteria for schwannomatosis
Neurology
M. MacCollin, E. A. Chiocca, D. G. Evans, J. M. Friedman, R. Horvitz, D. Jaramillo, M. Lev, V. F. Mautner, M. Niimura, S. R. Plotkin, C. N. Sang, A. Stemmer-Rachamimov, E. S. Roach
DOI: 10.1212/01.wnl.0000163982.78900.ad
06/2005

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?Osseous dysplasia
Clinical Genetics
S Alwan, SJ Tredwell, JM Friedman
DOI: 10.1111/j.1399-0004.2005.00410.x
03/2005

Angiotensin II receptor antagonist treatment during pregnancy
Birth Defects Research Part A: Clinical and Molecular Teratology
S. Alwan, J.E. Polifka, J.M. Friedman
DOI: 10.1002/bdra.20102
02/2005

Subcutaneous neurofibromas are associated with mortality in neurofibromatosis 1: A cohort study of 703 patients
American Journal of Medical Genetics Part A
Kiarash Khosrotehrani, Sylvie Bastuji-Garin, Vincent M. Riccardi, Patricia Birch, Jan M. Friedman, Pierre Wolkenstein
DOI: 10.1002/ajmg.a.30394
01/2005

Prevalence of Neurofibromatosis 1 in German Children at Elementary School Enrollment
Archives of Dermatology
Marga Lammert, Jan M. Friedman, Lan Kluwe, Victor F. Mautner
DOI: 10.1001/archderm.141.1.71
01/2005

Genotype-Phenotype Correlations for Nervous System Tumors in Neurofibromatosis 2: A Population-Based Study
The American Journal of Human Genetics
Michael E. Baser, Lisa Kuramoto, Harry Joe, J.M. Friedman, Andrew J. Wallace, James E. Gillespie, Richard T. Ramsden, D. Gareth R. Evans
DOI: 10.1086/422700
08/2004

Revisiting the Clinical Validity of Multiplex Genetic Testing in Complex Diseases: Reply to Janssens et al.
The American Journal of Human Genetics
Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J.M. Friedman, W. Dana Flanders
DOI: 10.1086/382054
03/2004

Utility and limitations of genetic disease databases in clinical genetics research: A neurofibromatosis 1 database example
American Journal of Medical Genetics
Patricia Birch and J.M. Friedman
DOI: 10.1002/ajmg.c.30007
01/2004

Analysis of neurofibromatosis 1 (NF1) lesions by body segment
American Journal of Medical Genetics
Chana Palmer, Jacek Szudek, Harry Joe, Vincent M. Riccardi, J.M. Friedman
DOI: 10.1002/ajmg.a.20354
2004

Genotype-phenotype correlations for cataracts in neurofibromatosis 2
Journal of Medical Genetics
M E Baser
DOI: 10.1136/jmg.40.10.758
10/2003

ConstitutionalNF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors
Human Mutation
Lan Kluwe, Reinhard E. Friedrich, Matthias Peiper, Jan Friedman, Victor-F. Mautner
DOI: 10.1002/humu.9193
09/2003

Exploring the “two-hit hypothesis” in NF2: Tests of two-hit and three-hit models of vestibular schwannoma development
Genetic Epidemiology
Ryan Woods, J. M. Friedman, D. Gareth R Evans, Michael E. Baser, Harry Joe
DOI: 10.1002/gepi.10238
05/2003

Human Chromosome 7: DNA Sequence and Biology
Science
S. W. Scherer
DOI: 10.1126/science.1083423
04/2003

Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
PEDIATRICS
S. A. Rasmussen, L.-Y. C. Wong, Q. Yang, K. M. May, J. M. Friedman
DOI: 10.1542/peds.111.4.777
04/2003

Improving the Prediction of Complex Diseases by Testing for Multiple Disease-Susceptibility Genes
The American Journal of Human Genetics
Quanhe Yang, Muin J. Khoury, Lorenzo Botto, J.M. Friedman, W. Dana Flanders
DOI: 10.1086/367923
03/2003

On the Use of Population Attributable Fraction to Determine Sample Size for Case-Control Studies of Gene-Environment Interaction
Epidemiology
Quanhe Yang, Muin J. Khoury, J. M. Friedman, W. Dana Flanders
DOI: 10.1097/01.ede.0000040256.22618.12
03/2003

Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
Human Genetics
author= {Szudek, Jacek and Evans, D. Gareth and Friedman, Jan M.}
DOI: 10.1007/s00439-002-0871-7
2003

Pathogenesis of hereditary tumors: beyond the “two-hit” hypothesisPathogenesis of hereditary tumors
Clinical Genetics
T Tucker, JM Friedman
DOI: 10.1034/j.1399-0004.2002.620501.x
11/2002

Predictors of the Risk of Mortality in Neurofibromatosis 2
The American Journal of Human Genetics
Michael E. Baser, J.M. Friedman, Dana Aeschliman, Harry Joe, Andrew J. Wallace, Richard T. Ramsden, D. Gareth R. Evans
DOI: 10.1086/342716
10/2002

Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2)
Genetic Epidemiology
Y. Zhao, R.A. Kumar, M.E. Baser, D.G.R. Evans, A. Wallace, L. Kluwe, V.F. Mautner, D.M. Parry, G.A. Rouleau, H. Joe, J.M. Friedman
DOI: 10.1002/gepi.10181
10/2002

Gliomas presenting after age 10 in individuals with neurofibromatosis type 1 (NF1)
Neurology
D. H. Gutmann, S. A. Rasmussen, P. Wolkenstein, M. M. MacCollin, A. Guha, P. D. Inskip, K. N. North, M. Poyhonen, P. H. Birch, J. M. Friedman
DOI: 10.1212/wnl.59.5.759
09/2002

Teratogenicity of Recently Introduced Medications in Human Pregnancy
Obstetrics & Gynecology
W. Y. Lo, J. M. Friedman
DOI: 10.1097/00006250-200209000-00012
09/2002

Unidentified bright objects associated with features of neurofibromatosis 1
Pediatric Neurology
Jacek Szudek, J.M Friedman
DOI: 10.1016/s0887-8994(02)00403-4
08/2002

Analysis of intrafamilial phenotypic variation in neurofibromatosis 1 (NF1)
Genetic Epidemiology
J. Szudek, H. Joe, J.M. Friedman
DOI: 10.1002/gepi.1129
08/2002

Vertebral scalloping in neurofibromatosis 1: A quantitative approach
Canadian Journal of Surgery
PubMed: PMC3686947
06/2002

Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force
Genetics in Medicine
J M Friedman, Jack Arbiser, Jonathan A Epstein, David H Gutmann, Stephen J Huot, Angela E Lin, Bruce Mcmanus, Bruce R Korf
DOI: 10.1097/00125817-200205000-00002
06/2002

Teratogen update: Azathioprine and 6-mercaptopurine
Teratology
Janine E. Polifka, J.M. Friedman
DOI: 10.1002/tera.10043
04/2002

Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study
The Lancet
Quanhe Yang, Sonja A Rasmussen, JM Friedman
DOI: 10.1016/s0140-6736(02)08092-3
03/2002

Update on new developments in the study of human teratogens
Teratology
T.H. Shepard, R.L. Brent, J.M. Friedman, K.L. Jones, R.K. Miller, C.A. Moore, J.E. Polifka
DOI: 10.1002/tera.10032
03/2002

Vestibular schwannoma growth in patients with neurofibromatosis Type 2: a longitudinal study
Journal of Neurosurgery
Victor-Felix Mautner, Michael E. Baser, Sarang D. Thakkar, Urs M. Feigen, J. M. Friedman, Lan Kluwe
DOI: 10.3171/jns.2002.96.2.0223
02/2002

Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Neurology
M. E. Baser, J. M. Friedman, A. J. Wallace, R. T. Ramsden, H. Joe, D. G.R. Evans
DOI: 10.1212/01.wnl.0000035638.74084.f4
2002

Mortality in Neurofibromatosis 1: An Analysis Using U.S. Death Certificates
The American Journal of Human Genetics
Sonja A. Rasmussen, Quanhe Yang, J.M. Friedman
DOI: 10.1086/320121
05/2001

Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family
American Journal of Medical Genetics
Bryce Ford, Rosemarie Rupps, David Lirenman, Margot I. Van Allen, Duncan Farquharson, Christopher Lyons, J.M. Friedman
DOI: 10.1002/1096-8628(2000)9999:9993.0.co;2-f
2001

Cardiac findings in an individual with neurofibromatosis 1 and sudden death
American Journal of Medical Genetics
Sara J. Hamilton, Michael F. Allard, J.M. Friedman
DOI: 10.1002/1096-8628(20010422)100:23.0.co;2-t
2001

Insights into the pathogenesis of neurofibromatosis 1 vasculopathyPathogenesis of NF1 vasculopathy
Clinical Genetics
SJ Hamilton, JM Friedman
DOI: 10.1034/j.1399-0004.2000.580501.x
2001

Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children
Neurology
R. G. Curless, J. M. Friedman, J. Szudek
DOI: 10.1212/wnl.55.7.1067-a
10/2000

Growth charts for young children with neurofibromatosis 1 (NF1)
American Journal of Medical Genetics
Jacek Szudek, Patricia Birch, Jan M. Friedman
DOI: 10.1002/(sici)1096-8628(20000529)92:33.0.co;2-j
05/2000

BRCA1 and BRCA2 Mutation Analysis of 208 Ashkenazi Jewish Women with Ovarian Cancer
The American Journal of Human Genetics
Roxana Moslehi, William Chu, Beth Karlan, David Fishman, Harvey Risch, Abbie Fields, David Smotkin, Yehuda Ben-David, Jacalyn Rosenblatt, Donna Russo, Peter Schwartz, Nadine Tung, Ellen Warner, Barry Rosen, Jan Friedman, Jean-Sébastien Brunet, Steven A. Narod
DOI: 10.1086/302853
04/2000

Use of the National Institutes of Health Criteria for Diagnosis of Neurofibromatosis 1 in Children
Pediatrics
Kimberly DeBella, Jacek Szudek, Jan Marshall Friedman
DOI: 10.1542/peds.105.3.608
03/2000

NF1 Gene and Neurofibromatosis 1
American Journal of Epidemiology
S. A. Rasmussen, J. M. Friedman
DOI: 10.1093/oxfordjournals.aje.a010118
01/2000

Associations of clinical features in neurofibromatosis 1 (NF1)
Genetic Epidemiology
J. Szudek, P. Birch, V.M. Riccardi, D.G. Evans, J.M. Friedman
DOI: 10.1002/1098-2272(200012)19:43.0.co;2-n
2000

Growth in North American white children with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
J Szudek
DOI: 10.1136/jmg.37.12.933
2000

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
American Journal of Medical Genetics
Angela E. Lin, Patricia H. Birch, Bruce R. Korf, Romano Tenconi, Michihito Niimura, Minna Poyhonen, Kim Armfield Uhas, Mauro Sigorini, Raffaele Virdis, Corrado Romano, Eugenio Bonioli, Pierre Wolkenstein, Eniko K. Pivnick, Marcella Lawrence, J.M. Friedman, the NNFF International Database Participants
DOI: 10.1002/1096-8628(20001113)95:23.0.co;2-0
2000

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
American Journal of Medical Genetics
H¿l¿ne Bruy¿re, Rosemarie Rupps, Brian D. Kuchinka, Jan M. Friedman, Wendy P. Robinson
DOI: 10.1002/1096-8628(20000904)94:13.0.co;2-9
2000

Descriptive analysis of tibial pseudarthrosis in patients with neurofibromatosis 1
American Journal of Medical Genetics
David A. Stevenson, Patricia H. Birch, J.M. Friedman, David H. Viskochil, Paolo Balestrazzi, Stefania Boni, Annegret Buske, Bruce R. Korf, Michihito Niimura, Eniko K. Pivnick, Elizabeth K. Schorry, M. Priscilla Short, Romano Tenconi, James H. Tonsgard, John C. Carey
DOI: 10.1002/(sici)1096-8628(19990611)84:53.0.co;2-1
06/1999

Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)
Neurology
M. E. Baser, P. H. Birch, D. G. R. Evans, J. M. Friedman, J. H. Tonsgard
DOI: 10.1212/wnl.52.7.1517-d
04/1999

Epidemiology of neurofibromatosis type 1
American Journal of Medical Genetics
J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19990326)89:13.3.co;2-#
03/1999

Duty to re-contact: A study of families at risk for fragile X
Genetic Counseling
1999

Clinical teratology: identifying teratogenic risks in humans
Clinical Genetics
Janine E Polifka, Jm Friedman
DOI: 10.1034/j.1399-0004.1999.560601.x
1999

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree
American Journal of Medical Genetics
Roxana Moslehi, Sylvie Langlois, Irene Yam, J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19980226)76:13.0.co;2-s
02/1998

One Fewer Worry for Survivors of Childhood Cancer
The American Journal of Human Genetics
J.M. Friedman
DOI: 10.1086/301693
01/1998

Clinical objectives in medical genetics for undergraduate medical students
Genetics in Medicine
DOI: 10.1097/00125817-199811000-00013
1998

Genetics in Medicine and informatics for the genetic clinician
Genetics in Medicine
Jan M Friedman
DOI: 10.1097/00125817-199811000-00011
1998

Association of professors of human or medical genetics: Second annual workshop summary
American Journal of Medical Genetics
J. M. Friedman
DOI: 10.1002/(sici)1096-8628(19971017)72:23.0.co;2-i
10/1997

Teratology society consensus statement on use of folic acid to reduce the risk of birth defects
Teratology
DOI: 10.1002/(sici)1096-9926(199706)55:63.3.co;2-3
06/1997

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
American Journal of Medical Genetics
J. M. Friedman, Patricia H. Birch
DOI: 10.1002/(sici)1096-8628(19970516)70:23.0.co;2-u
05/1997

An Association Between Optic Glioma and Other Tumours of the Central Nervous System in Neurofibromatosis Type 1
Neuropediatrics
J. Friedman, P. Birch
DOI: 10.1055/s-2007-973687
04/1997

Genetics and epidemiology, congenital anomalies and cancer
American Journal of Human Genetics
PubMed: PMC1712517
03/1997

Chromosome abnormalities in human beings
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
Deborah E McFadden, J.M Friedman
DOI: 10.1016/s0027-5107(97)00179-6
1997

Association of professors of human or medical genetics: Summary of first annual workshop
American Journal of Medical Genetics
J.M. Friedman
DOI: 10.1002/(sici)1096-8628(19961028)65:33.0.co;2-p
10/1996

Clinical teratology counseling and consultation report: High dose ß-carotene use during early pregnancy
Teratology
Janine E. Polifka, Cynthia R. Dolan, Michael A. Donlan, J. M. Friedman
DOI: 10.1002/(sici)1096-9926(199606)54:23.0.co;2-5
06/1996

Therapeutic teratology: The 1996 teratology society public affairs symposium
Teratology
DOI: 10.1002/(sici)1096-9926(199612)54:63.0.co;2-z
1996

Aneuploidy in germ cells: Etiologies and risk factors
Environmental and Molecular Mutagenesis
Jack B. Bishop, Vicki L. Dellarco, Terry Hassold, Lynnette R. Ferguson, Andrew J. Wyrobek, J.M. Friedman
DOI: 10.1002/(sici)1098-2280(1996)28:33.3.co;2-z
1996

Occurrence Of Chickenpox During Pregnancy In Women Seropositive For Varicella-Zoster Virus
Journal of Infectious Diseases
K. A. Martin, A. K. Junker, E. E. Thomas, M. I. Van Allen, J. M. Friedman
DOI: 10.1093/infdis/170.4.991
10/1994

FDA classification of drugs for teratogenic risk: Teratology society public affairs committee
Teratology
DOI: 10.1002/tera.1420490603
06/1994

A reevaluation of risk of in utero exposure to lithium
JAMA: The Journal of the American Medical Association
L. S. Cohen
DOI: 10.1001/jama.271.2.146
01/1994

Physician and Patient Education
Male-Mediated Developmental Toxicity
Jan M. Friedman
DOI: 10.1007/978-1-4615-1877-8_24
1994

Recommendations on the use of folic acid supplementation to prevent the recurrence of neural tube defects
Canadian Medical Association Journal
11/1993

Evidence for multi-site closure of the neural tube in humans
American Journal of Medical Genetics
Margot I. Van Allen, Dagmar K. Kalousek, Gerold F. Chernoff, Diana Juriloff, Muriel Harris, Barbara C. McGillivray, Siu-Li Yong, Sylvie Langlois, Patrick M. Macleod, David Chitayat, Jan M. Friedman, R. Doug Wilson, Deborah McFadden, J. Pantzar, Susan Ritchie, Judith G. Hall
DOI: 10.1002/ajmg.1320470528
10/1993

Cardio-facio-cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7
American Journal of Medical Genetics
E. Lopez-Rangel, M. Hrynchak, J. M. Friedman
DOI: 10.1002/ajmg.1320470306
09/1993

Report of the Teratology Society Public Affairs Committee symposium on FDA classification of drugs
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420480103
07/1993

Pattern of cardiac malformation in oculoauriculovertebral spectrum
American Journal of Medical Genetics
Anil Kumar, J. M. Friedman, Glenn P. Taylor, Michael W. H. Patterson
DOI: 10.1002/ajmg.1320460415
06/1993

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
J. M. Friedman, Patricia Birch, Carol Greene, NNFF International Database Participants
DOI: 10.1002/ajmg.1320450121
01/1993

Complementary duplication and deletion of 17 (pcen¿p11.2): A family with a supernumerary chromosome comprised of an interstitially deleted segment
American Journal of Medical Genetics
J. M. Friedman, M. J. E. Harrod, P. N. Howard-Peebles
DOI: 10.1002/ajmg.1320440109
09/1992

The gene responsible for X-linked cleft palate (CPX) in a British Columbia Native kindred is localized between PGK1 and DXYS1
American Journal of Human Genetics
PubMed: PMC1682621
05/1992

The use of dysmorphology in birth defects epidemiology
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420450212
02/1992

Williams syndrome in adults
American Journal of Medical Genetics
E. Lopez-Rangel, M. Maurice, B. McGillivray, J. M. Friedman
DOI: 10.1002/ajmg.1320440605
1992

Effects of drugs and other chemicals on fetal growth
Growth, Genetics and Hormones
1992

Teratogenic effects of "recreational" drugs
Canadian Family Physician
PubMed: PMC2145913
09/1991

Life-Threatening Status Asthmaticus at 12.5 Weeks’ Gestation
Chest
Dawna M. Gilchrist, Jan M. Friedman, Denise Werker
DOI: 10.1378/chest.100.1.285
07/1991

Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker-Warburg syndrome?
American Journal of Medical Genetics
David S. Wargowski, David Chitayat, R. Wes Tyson, Margaret G. Norman, J. M. Friedman
DOI: 10.1002/ajmg.1320390106
04/1991

Potential human teratogenicity of frequently prescribed drugs
International Journal of Gynecology & Obstetrics
JM Friedman, BB Little, RL Brent, JF Cordero, JW Hanson, TH Shepard
DOI: 10.1016/0020-7292(91)90546-h
01/1991

Congenital cataracts in mother, sister, and son of a patient with Hallermann-Streiff syndrome: Coincidence or clue?
American Journal of Medical Genetics
Mary Jo Harrod, Jan M. Friedman
DOI: 10.1002/ajmg.1320410424
1991

Eugenics and the "New Genetics"
Perspectives in Biology and Medicine
J. M. Friedman
DOI: 10.1353/pbm.1991.0001
1991

Maternal serum a-tetoprotein in pregnancy
American Journal of Obstetrics and Gynecology
Dawna M. Gilchrist, Jan M. Friedman, R. Doug Wilson
DOI: 10.1016/0002-9378(90)91252-8
08/1990

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome
American Journal of Medical Genetics
David Chitayat, Avi Rothchild, Emily Ling, J. M. Friedman, Robert M. Couch, Siu-Li Yong, Virginia J. Baldwin, Judith G. Hall
DOI: 10.1002/ajmg.1320360412
08/1990

Interpreting chromosomal abnormalities using Prolog
Computers and Biomedical Research
Glen Cooper, J.M. Friedman
DOI: 10.1016/0010-4809(90)90014-4
04/1990

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
American Journal of Medical Genetics
R. E. Magenis, S. Toth-Fejel, L. J. Allen, M. Black, M. G. Brown, S. Budden, R. Cohen, J. M. Friedman, D. Kalousek, J. Zonana, D. Lacy, S. Lafranchi, M. Lahr, J. Macfarlane, C. P. S. Williams
DOI: 10.1002/ajmg.1320350307
03/1990

Mild phenotypic abnormalities in combined del 9p2 and dup 3p2
American Journal of Medical Genetics
K. Game, J. M. Friedman, D. K. Kalousek
DOI: 10.1002/ajmg.1320350311
03/1990

Myelodysplasia and leukemia syndrome with monosomy 7: A genetic perspective
American Journal of Medical Genetics
D. M. Gilchrist, J. M. Friedman, P. C. J. Rogers, S. P. Creighton
DOI: 10.1002/ajmg.1320350323
03/1990

Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism
American Journal of Medical Genetics
David Chitayat, J. M. Friedman, Margaret M. Johnston
DOI: 10.1002/ajmg.1320350320
03/1990

Neuroblastoma in a child with Wiedemann-Beckwith syndrome
American Journal of Medical Genetics
David Chitayat, J. M. Friedman, James E. Dimmick
DOI: 10.1002/ajmg.1320350322
03/1990

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals
Annals of Human Genetics
K. VASARHELYI, J.M. FRIEDMAN
DOI: 10.1111/j.1469-1809.1989.tb01805.x
10/1989

Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs
American Journal of Medical Genetics
K. Game, J. M. Friedman, B. Paradice, M. G. Norman
DOI: 10.1002/ajmg.1320330226
06/1989

Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
American Journal of Medical Genetics
J. Stephen Bamforth, Claire O. Leonard, Bernard N. Chodirker, David Chitayat, Hilda L. Gritter, Jane A. Evans, Beth Keena, Tapio Pantzar, Jan M. Friedman, Judith G. Hall, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320320120
01/1989

Teratogens and IV cyclophosphamide
Journal of Rheumatology
1989

Encephalocraniocutaneous lipomatosis: Two case reports and a review of the literature
Neurofibromatosis
PubMed: 2699567
1989

Clinical, genetic and epidemiological factors in neural tube defects
American Journal of Human Genetics
PubMed: PMC1715625
12/1988

Biochemical abnormalities in rhizomelic chondrodysplasia punctata
The Journal of Pediatrics
Gerald Hoefler, Sigrid Hoefler, Paul A. Watkins, Winston W. Chen, Ann Moser, Virginia Baldwin, B. McGillivary, Joel Charrow, J.M. Friedman, Lane Rutledge, Takashi Hashimoto, Hugo W. Moser
DOI: 10.1016/s0022-3476(88)80689-9
05/1988

Anesthetic agents
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420370111
01/1988

Hepatocellular carcinoma in a child with familial Russell-Silver syndrome
American Journal of Medical Genetics
David Chitayat, Jan M. Friedman, Linda Anderson, James E. Dimmick, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320310425
1988

Fetal karyotype following ascertainment of fetal anomalies by ultrasound
Prenatal Diagnosis
Catherine G. Palmer, Judith H. Miles, Patricia N. Howard-Peebles, R. Ellen Magenis, Shivanand Patil, Jan M. Friedman
DOI: 10.1002/pd.1970070804
10/1987

ReCAP: The registry of cytogenetic abnormalities and phenylketonuria
American Journal of Medical Genetics
J. M. Friedman, Janet P. Smith, Barbara N. Lerner, Jean S. Helgeson, Patricia N. Howard-Peebles, Charles E. Mize, Susan G. Mize, William L. Singleton, M. Eileen Smith, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320270211
06/1987

Teratogens and growth
Growth, Genetics and Hormones
1987

Prevalence of Coxsackie B virus antibodies in patients with juvenile dermatomyositis
Arthritis & Rheumatism
MARY L. Christensen and Lauren M. Pachman and Richard Schneiderman and Devendrakumar C. Patel and Jan M. Friedman
DOI: 10.1002/art.1780291109
11/1986

Severe craniofacial sclerosis with multiple anomalies in a boy and his mother
Pediatric Radiology
G. Currarino, J. M. Friedman
DOI: 10.1007/bf02387953
09/1986

Del(20p) with manifestations of arteriohepatic dysplasia
American Journal of Medical Genetics
J. L. B. Byrne, M. J. E. Harrod, J. M. Friedman, P. N. Howard-Peebles, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320240411
08/1986

Inheritance of fragile X syndrome: An hypothesis
American Journal of Medical Genetics
J. M. Friedman, Patricia N. Howard-Peebles, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320230161
01/1986

Anatomic correlates of ultrasonographic prenatal diagnosis
Prenatal Diagnosis
Joe C. Rutledge, Arthur G. Weinberg, Jan M. Friedman, Mary Jo Harrod, Rigoberto Santos-Ramos
DOI: 10.1002/pd.1970060108
01/1986

A severe form of congenital contractural arachnodactyly in two newborn infants
American Journal of Medical Genetics
Guido Currarino, J. M. Friedman, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320250414
1986

Unaffected carrier males in families with fragile X syndrome
American Journal of Human Genetics
PubMed: PMC1684698
09/1985

Wolf-hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation
American Journal of Medical Genetics
Kristine Bauer, Patricia N. Howard-Peebles, Doman Keele, J. M. Friedman, John M. Opitz, James F. Reynolds
DOI: 10.1002/ajmg.1320210218
06/1985

Immunogenetic studies of juvenile dermatomyositis. III. Study of antibody to organ-specific and nuclear antigens
Arthritis & Rheumatism
Lauren M. Pachman, Jan M. Friedman, Mona L. Maryjowski-Sweeney, Olga Jonnason, Ruta M. Radvany, Gordon C. Sharp, Mike A. Cobb, Norma D. Battles, William E. Crowe, Chester W. Fink, Virgil Hanson, Joseph E. Levinson, Charles H. Spencer, Donita B. Sullivan
DOI: 10.1002/art.1780280208
02/1985

Neonatal alloimmune thrombocytopenic purpura and congenital porencephaly in two siblings associated with a "new" maternal antiplatelet antibody
Blood
Friedman, JM and Aster, RH
1985

A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations
American Journal of Medical Genetics
Joe C. Rutledge, J. M. Friedman, M. J. E. Harrod, G. Currarino, C. G. Wright, L. Pinckney, H. Chen
DOI: 10.1002/ajmg.1320190208
10/1984

Etiologic heterogeneity of fetal hydrocephalus diagnosed by ultrasound
American Journal of Obstetrics and Gynecology
M.J.E. Harrod, J.M. Friedman, R. Santos-Ramos, J. Rutledge, A. Weinberg
DOI: 10.1016/s0002-9378(84)80106-4
09/1984

Natural history of X-linked aqueductal stenosis in the second and third trimesters of pregnancy
American Journal of Obstetrics and Gynecology
J.M. Friedman, Rigoberto Santos-Ramos
DOI: 10.1016/s0002-9378(84)80123-4
09/1984

Genetic heterogeneity in spondyloepiphyseal dysplasia congenita
American Journal of Medical Genetics
Mary Jo E. Harrod, Jan M. Friedman, Guido Currarino, Richard M. Pauli, Leonard O. Langer, John M. Opitz
DOI: 10.1002/ajmg.1320180215
06/1984

Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome
Prenatal Diagnosis
Muhieddine Seoud, Rigoberto Santos-Ramos, J. M. Friedman
DOI: 10.1002/pd.1970040312
05/1984

Does agent orange cause birth defects?
Teratology
J. M. Friedman
DOI: 10.1002/tera.1420290208
04/1984

Immunogenetic studies of juvenile dermatomyositis: hla-dr antigen frequencies
Arthritis & Rheumatism
J. M. Friedman, L. M. Pachman, M. L. Maryjowski, R. M. Radvany, W. E. Crowe, V. Hanson, J. E. Levinson, C. H. Spencer
DOI: 10.1002/art.1780260216
02/1983

Can maternal alcohol ingestion cause neural tube defects?
The Journal of Pediatrics
J.M. Friedman
DOI: 10.1016/s0022-3476(82)80129-7
08/1982

Genetic Misconceptions
Southern Medical Journal
J. M. FRIEDMAN, MARY JO E. HARROD
DOI: 10.1097/00007611-198201000-00013
01/1982

Hemifacial microsomia in cri-du-chat (5p-) syndrome
Journal of Craniofacial Genetics and Developmental Biology
PubMed: 7183708
1982

Probable Clonal Origin of Neurofibrosarcoma in a Patient With Hereditary Neurofibromatosis23
JNCI: Journal of the National Cancer Institute
Friedman, Jan M. and Fialkow, Philip J. and Greene, Claudia L. and Weinberg, Michael N.
DOI: 10.1093/jnci/69.6.1289
1982

Prenatal diagnosis of birth defects and the "right to life"
Perinatology-Neonatology
1982

Genetic disease in the offspring of "older" fathers
Obstetrics & Gynecology
PubMed: 7231827
06/1981

The genetics of diabetes mellitus
Progress in Medical Genetics
PubMed: 7003655
1980

Acute Nonlymphocytic LeukemiaExpression in Cells Restricted to Granulocytic and Monocytic Differentiation
New England Journal of Medicine
Philip J. Fialkow, Jack W. Singer, John W. Adamson, Roger L. Berkow, Jan M. Friedman, Robert J. Jacobson, John W. Moohr
DOI: 10.1056/nejm197907053010101
07/1979

RAPIDLY ADHERING AMNIOTIC-FLUID CELLS AND PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS
The Lancet
M HARROD
DOI: 10.1016/s0140-6736(79)90150-8
07/1979

Longitudinal studies of chromosomal abnomalities and reticulum cell proliferation in new zealand black mice
International Journal of Cancer
J. M. Friedman, Philip J. Fialkow, June East, Jean I. Bryant, Armi C. Salo
DOI: 10.1002/ijc.2910220414
10/1978

Neoplastic behavior of chromosomally abnormal clones in New Zealand black mice
International Journal of Cancer
J. M. Friedman, Philip J. Fialkow, Jean Bryant, A. L. Reddy, Armi C. Salo
DOI: 10.1002/ijc.2910220415
10/1978

Studies of the HLA Complex in Families of Children with Congenital Heart Disease
Tissue Antigens
J. M. Friedman, M. H. Paul
DOI: 10.1111/j.1399-0039.1978.tb01288.x
05/1978

Specificity of acquired clonal chromosome abnormalities in new zealand black mice
International Journal of Cancer
Philip J. Fialkow, Jean I. Bryant, Jan M. Friedman
DOI: 10.1002/ijc.2910210417
04/1978

The genetics of Graves' disease
Clinics in Endocrinology and Metabolism
J.M. Friedman, Philip J. Fialkow
DOI: 10.1016/s0300-595x(78)80035-8
03/1978

HLA-B8 in juvenile dermatomyositis
The Lancet
LaurenM Pachman and Olga Jonasson and RobertA Cannon and J.M Friedman
DOI: 10.1016/s0140-6736(77)90716-4
09/1977

Autoimmunity in the relatives of patients with immunodeficiency diseases
Clinical & Experimental Immunology
PubMed: PMC1541009
06/1977

Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformations
The Journal of Pediatrics
J.M. Friedman, James W. Hanson, C Benjamin Graham, David W. Smith
DOI: 10.1016/s0022-3476(77)80892-5
1977

Inheritance of susceptibility to histocompatibility associated disease
The Lancet
J.M. Friedman
DOI: 10.1016/s0140-6736(76)92960-3
01/1976

Cell Marker Studies of Human Tumorigenesis
Immunological Reviews
J. M. Friedman, Philip I. Fialkow
DOI: 10.1111/j.1600-065x.1976.tb00190.x
01/1976

Viral “Tumorigenesis” in man: Cell markers incondylomata acuminata
International Journal of Cancer
J. M. Friedman, Philip J. Fialkow
DOI: 10.1002/ijc.2910170109
01/1976

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult
The American Journal of Medicine
J.M. Friedman and Henry G. Kaplan and Judith G. Hall
DOI: https://doi.org/10.1016/0002-9343(75)90472-6
1975

Trisomy-21 in mother and child: Report of a case
Obstetrics and gynecology
M Friedman, J and H Sternberg, W and Varela, M and L Barclay, D
12/1970

Developmental Toxicology and Teratology
Protocols for High-Risk Pregnancies
James W. Hanson and Jan M. Friedman
DOI: 10.1002/9781444312904.ch2

Research

Current Project
Prescription medications are not tested for safety in human pregnancy before they are approved for marketing, and the passive adverse event reporting schemes required after regulatory approval have proven to be inefficient means of identifying maternal drug treatments that can harm the embryo or fetus. As a consequence, the average time required to recognize that a newly marketed drug can harm the developing embryo or fetus is more than 7 years, and the fetal risk or safety of more than 90% of prescription drugs approved for clinical use since 1980 is unknown. We are doing studies of various maternal treatments during pregnancy and birth defect risk in the children using data from a large US study in collaboration with the Centers for Disease Control and Prevention in Atlanta, GA.

Current Projects
People with neurofibromatosis 1 often develop large numbers of benign tumours throughout their bodies, and some of these tumours may become malignant. Debilitating skeletal abnormalities and a characteristic vascular disorder, which may cause stroke, heart disease, or death in early adulthood, may also occur. We are conducting clinical, epidemiological and laboratory studies of these and other manifestations of neurofibromatosis to determine their frequency, natural history, and pathogenesis in affected patients.

Current Project
For 50 years, we have known that chromosomal abnormalities, which produce gain or loss of genomic material, are a major cause of mental retardation. Recent studies have shown that mental retardation in some children is caused by genomic imbalance that is much too small to detect by conventional chromosomal analysis. We are using newly developed technologies such as array genomic hybridization and high-throughput DNA sequencing to identify, characterize and understand the clinical consequences of the genomic alterations that cause at least 25% of all mental retardation.

Honours & Awards

Fellow of the Canadian Academy of Health Sciences

2012 Distinguished Medical Research Lecturer Award, Faculty of Medicine, University of British Columbia

UBC Killam Teaching Award – Faculty of Medicine, 2010

Research Group Members

Alice Wang
Christele du Souich, Investigator, BC Children's Hospital
Shelin Adam, Research Genetic Counsellor, Investigator, BC Children's Hospital
Patricia Birch, Research Manager, Investigator, BC Children's Hospital, Research Nurse
Liza Mak
Hilal Al Shekaili
Jill Mwenifumbo, Bioinformatician
Nicolas Dragojlovic
Suvina To
Madeline Couse
Rachel Coe
Sura Alwan
Megan Chan, Student
Colleen Guimond, Genetic Counsellor
Indhu Shree Rajan Babu
Elisa Lau
Nicole Liang, Research Assistant