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

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation
Molecular Genetics and Metabolism
Hanneke A. Haijes and Monique G.M. de Sain-van der Velden and Hubertus C.M.T. Prinsen and Anke P. Willems and Maria van der Ham and Johan Gerrits and Madeline H. Couse and Jan M. Friedman and Clara D.M. van Karnebeek and Kathryn A. Selby and Peter M. van Hasselt and Nanda M. Verhoeven-Duif and Judith J.M. Jans
DOI: 10.1016/j.ymgme.2019.07.001
07/2019

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit—successes and challenges
European Journal of Pediatrics
Alison M. Elliott and Christèle du Souich and Anna Lehman and Ilaria Guella and Daniel M. Evans and Tara Candido and Leah Tooman and Linlea Armstrong and Lorne Clarke and William Gibson and Harinder Gill and Pascal M. Lavoie and Suzanne Lewis and Margaret L. McKinnon and Sarah M. Nikkel and Millan Patel and Alfonso Solimano and Anne Synnes and Joseph Ting and Margot van Allen and Jan Christilaw and Matthew J. Farrer and Jan M. Friedman and Horacio Osiovich
DOI: 10.1007/s00431-019-03399-4
06/2019

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Translational Research
Andreas Brodehl and Saman Rezazadeh and Tatjana Williams and Nicole M. Munsie and Daniel Liedtke and Tracey Oh and Raechel Ferrier and Yaoqing Shen and Steven J.M. Jones and Amy L. Stiegler and Titus J. Boggon and Henry J. Duff and Jan M. Friedman and William T. Gibson and Sarah J. Childs and Brenda Gerull
DOI: 10.1016/j.trsl.2019.02.004
06/2019

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
Brain
DOI: 10.1093/brain/awy346
03/2019

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
Genetics in Medicine
DOI: 10.1038/s41436-018-0055-z
02/2019

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Journal of Human Genetics
Heba Yasin and William T. Gibson and Sylvie Langlois and Robert M. Stowe and Erica S. Tsang and Leora Lee and Jenny Poon and Grant Tran and Christine Tyson and Chi Kin Wong and Marco A. Marra and Jan M. Friedman and Farah R. Zahir
DOI: 10.1038/s10038-019-0561-0
01/2019

The importance of genetic counselling in genome-wide sequencing
Nature Reviews Genetics
Alison M. Elliott and Jan M. Friedman
DOI: 10.1038/s41576-018-0057-3
10/2018

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study
Genetics in Medicine
DOI: 10.1038/gim.2017.226
09/2018

The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia
Molecular Genetics & Genomic Medicine
DOI: 10.1002/mgg3.410
07/2018

Neurofibromatosis 1
PubMed: 20301288
05/2018

Key Implications of Data Sharing in Pediatric Genomics
JAMA Pediatrics
DOI: 10.1001/jamapediatrics.2017.5500
05/2018

Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1
Orphanet Journal of Rare Diseases
Laura Sellmer and Said Farschtschi and Marco Marangoni and Manraj K. S. Heran and Patricia Birch and Ralph Wenzel and Victor-Felix Mautner and Jan M. Friedman
DOI: 10.1186/s13023-018-0811-9
04/2018

Evaluating the use of parental reports to estimate health care resource utilization in children with suspected genetic disorders.
Journal of evaluation in clinical practice
DOI: 10.1111/jep.12876
PubMed: 29603523
04/2018

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

Neurofibromin haploinsufficiency results in altered spermatogenesis in a mouse model of neurofibromatosis type 1
PLOS ONE
Harleen Chohan and Mitra Esfandiarei and Darian Arman and Catherine D. Van Raamsdonk and Cornelis van Breemen and Jan M. Friedman and Kimberly A. Jett
DOI: 10.1371/journal.pone.0208835
2018

Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions
Journal of Genetic Counseling
Shelin Adam and Patricia H. Birch and Rachel R. Coe and Nick Bansback and Adrian L. Jones and Mary B. Connolly and Michelle K. Demos and Eric B. Toyota and Matthew J. Farrer and Jan M. Friedman
DOI: 10.1007/s10897-018-0281-1
2018

Assessing Shared Decision-Making Clinical Behaviors Among Genetic Counsellors
Journal of Genetic Counseling
Patricia H. Birch and S. Adam and R. R. Coe and A. V. Port and M. Vortel and J. M. Friedman and F. Légaré
DOI: 10.1007/s10897-018-0285-x
2018

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
The American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2017.11.006
12/2017

Controversy and debate on clinical genomics sequencing—paper 4: clinical genome-wide sequencing: response to Wilson, Miller, and Rousseau
Journal of Clinical Epidemiology
DOI: 10.1016/j.jclinepi.2017.09.019
12/2017

Editorial In 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 and Colin H. Peters and Katelin N. Townsend and Yaoqing Shen and Glenda Hendson and Shelin Adam and Kathryn Selby and Patrick M. Macleod and Cynthia Gershome and Peter Ruben and Steven J. M. Jones and Jan M. Friedman and William T. Gibson and Gabriella A. Horvath and the FORGE Canada Consortium
DOI: 10.1002/ajmg.a.38400
09/2017

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
DOI: 10.1016/j.jclinepi.2017.08.020
PubMed: 28916491
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 and Samrat Thouta and Grazia M.S. Mancini and Sakkubai Naidu and Marjon van Slegtenhorst and Kirsty McWalter and Richard Person and Jill Mwenifumbo and Ramona Salvarinova and Ilaria Guella and Marna B. McKenzie and Anita Datta and Mary B. Connolly and Somayeh Mojard Kalkhoran and Damon Poburko and Jan M. Friedman and Matthew J. Farrer and Michelle Demos and Sonal Desai and Thomas Claydon and Shelin Adam and Christèle du Souich and Alison M. Elliott and Anna Lehman and Jill Mwenifumbo and Tanya N. Nelson and Clara van Karnebeek and Jan M. Friedman and Shelin Adam and Cyrus Boelman and Corneliu Bolbocean and Sarah E. Buerki and Tara Candido and Patrice Eydoux and Daniel M. Evans and William Gibson and Gabriella Horvath and Linda Huh and Tanya N. Nelson and Graham Sinclair and Tamsin Tarling and Eric B. Toyota and Katelin N. Townsend and Margot I. Van Allen and Clara van Karnebeek and 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 and Jill C. Mwenifumbo and Hye-Jung E. Chun and Emilia L. Lim and Clara D. M. Van Karnebeek and Madeline Couse and Karen L. Mungall and Leora Lee and Nancy Makela and Linlea Armstrong and Cornelius F. Boerkoel and Sylvie L. Langlois and Barbara M. McGillivray and Steven J. M. Jones and Jan M. Friedman and 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 and Said Farschtschi and Marco Marangoni and Manraj K. S. Heran and Patricia Birch and Ralph Wenzel and Jan M. Friedman and Victor-Felix Mautner
DOI: 10.1186/s13023-017-0588-2
02/2017

Comparing the ability of OPTION12 and OPTION5 to assess shared decision-making in genetic counselling.
Patient Education and Counseling
Martina A. Vortel and Shelin Adam and Ashley V. Port-Thompson and Jan M. Friedman and Stuart W. Grande and 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 and Tracy Tucker and Sonia Mayo and Carolyn J. Brown and Emilia L. Lim and Jonathan Taylor and Marco A. Marra and Fadi F. Hamdan and Jacques L. Michaud and Jan M. Friedman
DOI: 10.1002/ajmg.a.37669
10/2016

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

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

Parents’ Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing
Journal of Nursing Scholarship
Karen C. Li and Patricia H. Birch and Bernard M. Garrett and Maura MacPhee and Shelin Adam and 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 and Jan M. Friedman and Jørgen H. Olsen and 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?
Prenatal Diagnosis
Lyn S. Chitty and Jan M. Friedman and 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 and Adrian Jones and Harry Joe and Laura Heap and Miriam J Smith and Andrew J Wallace and Dorothy Halliday and Allyson Parry and Amy Taylor and Lucy Raymond and Adam Shaw and Shazia Afridi and Rupert Obholzer and Patrick Axon and Andrew T King and Jan M Friedman and D Gareth R Evans and The English Specialist NF2 Research Group
DOI: 10.1136/jmedgenet-2015-103290
08/2015

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

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

Individual DNA samples and health information sold by 23andMe
Genetics in Medicine
Shelin Adam and 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 and Taila Hartley and Shelin Adam and Francois Bernier and Karen Chong and Bridget A Fernandez and Jan M Friedman and Michael T Geraghty and Stacey Hume and Bartha M Knoppers and Anne-Marie Laberge and Jacek Majewski and Roberto Mendoza-Londono and M Stephen Meyn and Jacques L Michaud and Tanya N Nelson and Julie Richer and Bekim Sadikovic and David L Skidmore and Tracy Stockley and Sherry Taylor and Clara van Karnebeek and Ma'n H Zawati and Julie Lauzon and Christine M Armour
DOI: 10.1136/jmedgenet-2015-103144
05/2015

Genetic Mosaics and the Germ Line Lineage
Genes
Mark Samuels and 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 and Rosa Nguyen and Darian Arman and Patricia Birch and Harleen Chohan and Said Farschtschi and Carsten Fuensterer and Lan Kluwe and Jan M. Friedman and Victor F. Mautner
DOI: 10.1002/ajmg.a.37068
04/2015

Antineoplastic drugs
Drugs During Pregnancy and Lactation
Jan M. Friedman and 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 and Jacek Majewski and Jeremy Schwartzentruber and Mark E. Samuels and Bridget A. Fernandez and Francois P. Bernier and Michael Brudno and Bartha Knoppers and Janet Marcadier and David Dyment and Shelin Adam and Dennis E. Bulman and Steve J.M. Jones and Denise Avard and Minh Thu Nguyen and Francois Rousseau and Christian Marshall and Richard F. Wintle and Yaoqing Shen and Stephen W. Scherer and Jan M. Friedman and Jacques L. Michaud and Kym M. Boycott
DOI: 10.1016/j.ajhg.2014.05.003
06/2014

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

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

Clinical Teratology
Reference Module in Biomedical Sciences
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 and Farah R Zahir and Malachi Griffith and Allen Delaney and David Chai and Erica Tsang and Emmanuelle Lemyre and Sylvia Dobrzeniecka and Marco Marra and Patrice Eydoux and Sylvie Langlois and Fadi F Hamdan and Jacques L Michaud and 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 and Kimberly Jett and Gordon J. Harris and Wenli Cai and Jan M. Friedman and 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 and Shelin Adam and Patricia H. Birch and 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 and Sylvie Giroux and Valérie Clément and Sylvie Langlois and Jan M. Friedman and François Rousseau
DOI: 10.1002/mgg3.12
05/2013

Effect of vitamin D3 treatment on bone density in neurofibromatosis 1 patients: A retrospective clinical study
Joint Bone Spine
Claudia Schnabel and Kimberly Jett and Jan M. Friedman and Isolde Frieling and Hans-Peter Kruse and 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 and S. Adam and P. H. Birch and J. M. Friedman
DOI: 10.1007/s10897-013-9604-4
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 and Kimberly Jett and Patricia Birch and David L. Kendler and Heather McKay and Erica Tsang and David A. Stevenson and David A. Hanley and Deetria Egeli and Melonie Burrows and J.M. Friedman
DOI: 10.1002/ajmg.a.36001
05/2013

Autonomy and the patient's right ‘not to know’ in clinical whole-genomic sequencing
European Journal of Human Genetics
Anne Townsend and Francois Rousseau and Jan Friedman and Shelin Adam and Zoe Lohn and 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 and Angela Inglis and Jan Friedman and Jehannine Austin
DOI: 10.1038/gim.2013.31
04/2013

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

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

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

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

Quality of Life in NF1
Neurofibromatosis Type 1
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 and Dimira E. Tambunan and R. Sean Hill and Tim W. Yu and Thomas M. Maynard and Erin L. Heinzen and Kevin V. Shianna and Christine R. Stevens and Jennifer N. Partlow and Brenda J. Barry and Jacqueline Rodriguez and Vandana A. Gupta and Abdel-Karim Al-Qudah and Wafaa M. Eyaid and Jan M. Friedman and Mustafa A. Salih and Robin Clark and Isabella Moroni and Marina Mora and Alan H. Beggs and Stacey B. Gabriel and 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 and Rosemarie Rupps and Barbara McGillivray and Patrice Eydoux and Marco Marra and Laura Arbour and Sylvie Langlois and Jan M. Friedman and Farah R. Zahir
DOI: 10.1002/ajmg.a.35568
08/2012

Survival among people with Down syndrome: a nationwide population-based study in Denmark
Genetics in Medicine
Jin Liang Zhu and Henrik Hasle and Adolfo Correa and Diana Schendel and J.M. Friedman and Jørn Olsen and Sonja A. Rasmussen
DOI: 10.1038/gim.2012.93
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 and Shelin Adam and Patricia H. Birch and Zoe Lohn and Francois Rousseau and Jan M. Friedman
DOI: 10.1002/ajmg.a.35554
08/2012

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

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

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 and Lynn Bailey and Robert Clarke and W Dana Flanders and Tiebin Liu and Ajay Yesupriya and Muin J Khoury and 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 and JoAnne Palin and Jan M. Friedman and Gerry Veenstra and Susan Creighton and Joan L. Bottorff and Michael R. Hayden and The Canadian Respond-HD Collaborative Research Group
DOI: 10.1002/ajmg.b.32016
01/2012

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

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

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

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

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

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

Emerging issues in teratology: An introduction
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Sonja A. Rasmussen and Jan M. Friedman
DOI: 10.1002/ajmg.c.30305
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 and Janine E. Polifka and J.M. Friedman
DOI: 10.1002/ajmg.c.30313
07/2011

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

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 and Vincent M. Riccardi and Carolyn Brown and John Fee and Margaret Sutcliffe and Juergen Vielkind and Janine Wechsler and Pierre Wolkenstein and 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 and René L. Warren and J. Douglas Freeman and Julia A. Gustavsen and Caroline Chénard and Jan M. Friedman and Curtis A. Suttle and Yongjun Zhao and Robert A. Holt
DOI: 10.1371/journal.pone.0019838
05/2011

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

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

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

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

Patterns of Antidepressant Medication Use Among Pregnant Women in a United States Population
The Journal of Clinical Pharmacology
Sura Alwan and Jennita Reefhuis and Sonja A. Rasmussen and Jan M. Friedman and 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 and JoAnne Palin and Jan M. Friedman and Gerry Veenstra and Susan Creighton and Jane S. Paulsen and Joan L. Bottorff and Michael R. Hayden and 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 and Robert E. Chapin and Anthony R. Scialli and Aldert H. Piersma and Edward W. Carney and John M. Rogers and Jan M. Friedman
DOI: 10.1002/bdrb.20276
11/2010

The principles of teratology: Are they still true?
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 and Jennita Reefhuis and Lorenzo D. Botto and Sonja A. Rasmussen and Adolfo Correa and Jan M. Friedman
DOI: 10.1016/j.ajog.2010.02.015
07/2010

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

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

Prevalence of dental caries in children with neurofibromatosis 1
Clinical Oral Investigations
Erica S. Tsang and Patricia Birch and Jan M. Friedman and Douglas Johnston and Tracy Tucker and 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 and Manraj K.S. Heran and Mary B. Connolly and Harindar K. Heran and J.M. Friedman and Kimberly Jett and Christopher J. Lyons and Paul Steinbok and 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 and Patricia H. Birch and Jan M. Friedman and Carlo A. Marra
DOI: 10.1002/ajmg.a.33050
11/2009

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
BMC Genomics
DOI: 10.1186/1471-2164-10-526
11/2009

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

Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
American Journal of Medical Genetics Part A
Florent Elefteriou and Mateusz Kolanczyk and Aaron Schindeler and David H. Viskochil and Janet M. Hock and Elizabeth K. Schorry and Alvin H. Crawford and Jan M. Friedman and David Little and Juha Peltonen and John C. Carey and David Feldman and Xijie Yu and Linlea Armstrong and Patricia Birch and David L. Kendler and Stefan Mundlos and Feng-Chun Yang and Gina Agiostratidou and Kim Hunter-Schaedle and 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 and F. Bena and J. Breckpot and N. Philip and B. Menten and H. Van Esch and E. Scalais and J. M. Salamone and C.-T. Fong and J. L. Kussmann and D. K. Grange and J. L. Gorski and F. Zahir and S. L. Yong and M. M. Morris and S. Gimelli and J.-P. Fryns and G. Mortier and J. M. Friedman and L. Villard and A. Bottani and J. R. Vermeesch and S. W. Cheung and K. Devriendt
DOI: 10.1136/jmg.2009.070573
10/2009

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

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

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

Impact of BRCA mutations on female fertility and offspring sex ratio
American Journal of Human Biology
DOI: 10.1002/ajhb.20978
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 and Sylvie Langlois and Kim Gall and Patrice Eydoux and Marco A. Marra and Jan M. Friedman
DOI: 10.1002/ajmg.a.32827
06/2009

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
BMJ
Y. Bombard and G. Veenstra and J. M Friedman and S. Creighton and L. Currie and J. S Paulsen and J. L Bottorff and M. R Hayden and the Canadian Respond-HD Collaborative Research Group
DOI: 10.1136/bmj.b2175
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 and JM Friedman and N Makela and M Ryan and CA Marra
DOI: 10.1111/j.1399-0004.2009.01193.x
06/2009

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

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 and R. M. Bostick and J.M. Friedman and W. D. Flanders
DOI: 10.1158/1055-9965.epi-08-0908
05/2009

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

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

Bone health and fracture rate in individuals with neurofibromatosis 1 (NF1)
Journal of Medical Genetics
DOI: 10.1136/jmg.2008.061895
11/2008

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients
Human Mutation
Clelia Prattichizzo and Marina Macca and Valeria Novelli and Giovanna Giorgio and Adriano Barra and Brunella Franco and 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 and Florence A. Asuagbor and Eva Dombi and Carsten Fu¨nsterer and Lan Kluwe and Ralf Wenzel and Brigitte C. Widemann and 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 and Lorenzo D Botto and Margaret Gallagher and JM Friedman and Christopher L Sanders and Deborah Koontz and Stanimila Nikolova and J David Erickson and Karen Steinberg
DOI: 10.1093/ajcn/88.1.232
07/2008

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

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
DOI: 10.1097/ypg.0b013e3282f97df7
06/2008

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

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

Familial carcinoma of the pancreas
Clinical Genetics
DOI: 10.1111/j.1399-0004.1976.tb01598.x
04/2008

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

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

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

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

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

Pregnancy and postnatal outcome of mosaic isochromosome 20q
Prenatal Diagnosis
DOI: 10.1002/pd.1636
12/2007

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

A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1 
Journal of Medical Genetics
DOI: 10.1136/jmg.2007.054437
11/2007

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

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

Increased dental caries in people with neurofibromatosis 1
Clinical Genetics
T Tucker and P Birch and DM Savoy and 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 and 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 and David H Viskochil and Elizabeth K Schorry and Alvin H Crawford and Jacques D'Astous and Kathleen A Murray and J M Friedman and Linlea Armstrong and 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 and Cheryl Shuman and Louise Wilkins-Haug and Mellissa Mann and Mary Croughan and Donna Stewart and Catherine Rakowsky and Arthur Leader and Judith Hall and J.M. Friedman and Joe Leigh Simpson and Lewis Holmes and 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 and Jennita Reefhuis and Sonja A. Rasmussen and Richard S. Olney and 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 and H. V Firth and A. Baross and A. D Delaney and P. Eydoux and W. T Gibson and S. Langlois and H. Martin and L. Willatt and M. A Marra and 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
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 and Heather K Carter and Joseph Mulinare and RJ Berry and JM Friedman and 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 and K. Buysse and F. Zahir and J. Hellemans and S. J Hamilton and T. Costa and C. Fagerstrom and G. Anadiotis and D. Kingsbury and B. C McGillivray and M. A Marra and J. M Friedman and F. Speleman and 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
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 and J. M. Friedman and Lewis B. Holmes and Kathleen Uhl and Nancy S. Green and 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 and Lee-Yang Wong and Adolfo Correa and Don Gambrell and J.M. Friedman
DOI: 10.1016/j.jpeds.2006.01.010
06/2006

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

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 and J. M. Friedman and D. G. R. Evans
DOI: 10.1212/01.wnl.0000201190.89751.41
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
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
DOI: 10.1002/ajmg.a.31015
11/2005

Analysis of NF1 transcriptional regulatory elements
American Journal of Medical Genetics Part A
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 and 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

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

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

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

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

Is osseous dysplasia a primary feature of neurofibromatosis 1 (NF1)?
Clinical Genetics
S Alwan and SJ Tredwell and 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 and J.E. Polifka and 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 and Sylvie Bastuji-Garin and Vincent M. Riccardi and Patricia Birch and Jan M. Friedman and 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 and Jan M. Friedman and Lan Kluwe and 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 and Lisa Kuramoto and Harry Joe and J.M. Friedman and Andrew J. Wallace and James E. Gillespie and Richard T. Ramsden and 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 and Muin J. Khoury and Lorenzo Botto and J.M. Friedman and 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
DOI: 10.1002/ajmg.c.30007
01/2004

Analysis of neurofibromatosis 1 (NF1) lesions by body segment
American Journal of Medical Genetics
Chana Palmer and Jacek Szudek and Harry Joe and Vincent M. Riccardi and 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 and Reinhard E. Friedrich and Matthias Peiper and Jan Friedman and 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 and J. M. Friedman and D. Gareth R Evans and Michael E. Baser and Harry Joe
DOI: 10.1002/gepi.10238
05/2003

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

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

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

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

Patterns of associations of clinical features in neurofibromatosis 1 (NF1)
Human Genetics
DOI: 10.1007/s00439-002-0871-7
2003

Pathogenesis of hereditary tumors: beyond the “two-hit” hypothesis
Clinical Genetics
T Tucker and 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 and J.M. Friedman and Dana Aeschliman and Harry Joe and Andrew J. Wallace and Richard T. Ramsden and D. Gareth R. Evans
DOI: 10.1086/342716
10/2002

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

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

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

Unidentified bright objects associated with features of neurofibromatosis 1
Pediatric Neurology
Jacek Szudek and 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 and H. Joe and J.M. Friedman
DOI: 10.1002/gepi.1129
08/2002

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

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

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

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

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

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

Evaluation of clinical diagnostic criteria for neurofibromatosis 2
Neurology
M. E. Baser and J. M. Friedman and A. J. Wallace and R. T. Ramsden and H. Joe and 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 and Quanhe Yang and J.M. Friedman
DOI: 10.1086/320121
05/2001

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

Renal-coloboma syndrome: Prenatal detection and clinical spectrum in a large family
American Journal of Medical Genetics
Bryce Ford and Rosemarie Rupps and David Lirenman and Margot I. Van Allen and Duncan Farquharson and Christopher Lyons and 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 and Michael F. Allard and J.M. Friedman
DOI: 10.1002/1096-8628(20010422)100:23.0.co;2-t
2001

Use of "unidentified bright objects" on MRI for diagnosis of neurofibromatosis 1 in children
Neurology
R. G. Curless and J. M. Friedman and 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 and Patricia Birch and 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 and William Chu and Beth Karlan and David Fishman and Harvey Risch and Abbie Fields and David Smotkin and Yehuda Ben-David and Jacalyn Rosenblatt and Donna Russo and Peter Schwartz and Nadine Tung and Ellen Warner and Barry Rosen and Jan Friedman and Jean-Sébastien Brunet and 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 and Jacek Szudek and Jan Marshall Friedman
DOI: 10.1542/peds.105.3.608
03/2000

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

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

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

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 and Rosemarie Rupps and Brian D. Kuchinka and Jan M. Friedman and 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 and Patricia H. Birch and J.M. Friedman and David H. Viskochil and Paolo Balestrazzi and Stefania Boni and Annegret Buske and Bruce R. Korf and Michihito Niimura and Eniko K. Pivnick and Elizabeth K. Schorry and M. Priscilla Short and Romano Tenconi and James H. Tonsgard and 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 and P. H. Birch and D. G. R. Evans and J. M. Friedman and 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

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

Duty to re-contact: A study of families at risk for fragile X
Genetic Counseling
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 and Sylvie Langlois and Irene Yam and 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

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

Clinical objectives in medical genetics for undergraduate medical students
Genetics in Medicine
DOI: 10.1097/00125817-199811000-00013
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 and 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 and 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 and 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 and Cynthia R. Dolan and Michael A. Donlan and 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 and Vicki L. Dellarco and Terry Hassold and Lynnette R. Ferguson and Andrew J. Wyrobek and 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 and A. K. Junker and E. E. Thomas and M. I. Van Allen and 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 and Dagmar K. Kalousek and Gerold F. Chernoff and Diana Juriloff and Muriel Harris and Barbara C. McGillivray and Siu-Li Yong and Sylvie Langlois and Patrick M. Macleod and David Chitayat and Jan M. Friedman and R. Doug Wilson and Deborah McFadden and J. Pantzar and Susan Ritchie and 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 and M. Hrynchak and 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 and J. M. Friedman and Glenn P. Taylor and Michael W. H. Patterson
DOI: 10.1002/ajmg.1320460415
06/1993

National Neurofibromatosis Foundation International Database
American Journal of Medical Genetics
J. M. Friedman and Patricia Birch and Carol Greene and 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 and M. J. E. Harrod and 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 and M. Maurice and B. McGillivray and 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 and Jan M. Friedman and 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 and David Chitayat and R. Wes Tyson and Margaret G. Norman and J. M. Friedman
DOI: 10.1002/ajmg.1320390106
04/1991

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

Eugenics and the "New Genetics"
Perspectives in Biology and Medicine
J. M. Friedman
DOI: 10.1353/pbm.1991.0001
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 and Jan M. Friedman
DOI: 10.1002/ajmg.1320410424
1991

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

Maternal serum a-fetoprotein in pregnancy
American Journal of Obstetrics and Gynecology
DOI: 10.1016/0002-9378(90)91252-8
08/1990

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

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

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

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 and S. Toth-Fejel and L. J. Allen and M. Black and M. G. Brown and S. Budden and R. Cohen and J. M. Friedman and D. Kalousek and J. Zonana and D. Lacy and S. Lafranchi and M. Lahr and J. Macfarlane and 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 and J. M. Friedman and D. K. Kalousek
DOI: 10.1002/ajmg.1320350311
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 and J. M. Friedman and Margaret M. Johnston
DOI: 10.1002/ajmg.1320350320
03/1990

Analysing rearrangement breakpoint distributions by means of binomial confidence intervals
Annals of Human Genetics
K. VASARHELYI and 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 and J. M. Friedman and B. Paradice and 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 and Claire O. Leonard and Bernard N. Chodirker and David Chitayat and Hilda L. Gritter and Jane A. Evans and Beth Keena and Tapio Pantzar and Jan M. Friedman and Judith G. Hall and John M. Opitz and 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 and Sigrid Hoefler and Paul A. Watkins and Winston W. Chen and Ann Moser and Virginia Baldwin and B. McGillivary and Joel Charrow and J.M. Friedman and Lane Rutledge and Takashi Hashimoto and 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 and Jan M. Friedman and Linda Anderson and James E. Dimmick and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320310425
1988

Fetal karyotype following ascertainment of fetal anomalies by ultrasound
Prenatal Diagnosis
Catherine G. Palmer and Judith H. Miles and Patricia N. Howard-Peebles and R. Ellen Magenis and Shivanand Patil and 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 and Janet P. Smith and Barbara N. Lerner and Jean S. Helgeson and Patricia N. Howard-Peebles and Charles E. Mize and Susan G. Mize and William L. Singleton and M. Eileen Smith and John M. Opitz and 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 and 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 and M. J. E. Harrod and J. M. Friedman and P. N. Howard-Peebles and John M. Opitz and James F. Reynolds
DOI: 10.1002/ajmg.1320240411
08/1986

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

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

A severe form of congenital contractural arachnodactyly in two newborn infants
American Journal of Medical Genetics
Guido Currarino and J. M. Friedman and John M. Opitz and 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 and Patricia N. Howard-Peebles and Doman Keele and J. M. Friedman and John M. Opitz and 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 and Jan M. Friedman and Mona L. Maryjowski-Sweeney and Olga Jonnason and Ruta M. Radvany and Gordon C. Sharp and Mike A. Cobb and Norma D. Battles and William E. Crowe and Chester W. Fink and Virgil Hanson and Joseph E. Levinson and Charles H. Spencer and 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
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 and J. M. Friedman and M. J. E. Harrod and G. Currarino and C. G. Wright and L. Pinckney and 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 and J.M. Friedman and R. Santos-Ramos and J. Rutledge and 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 and 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 and Jan M. Friedman and Guido Currarino and Richard M. Pauli and Leonard O. Langer and John M. Opitz
DOI: 10.1002/ajmg.1320180215
06/1984

Early prenatal ultrasonic findings in klippel—trenaunay—weber syndrome
Prenatal Diagnosis
Muhieddine Seoud and Rigoberto Santos-Ramos and 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 and L. M. Pachman and M. L. Maryjowski and R. M. Radvany and W. E. Crowe and V. Hanson and J. E. Levinson and 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 and 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

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

Probable Clonal Origin of Neurofibrosarcoma in a Patient With Hereditary Neurofibromatosis23
JNCI: Journal of the National Cancer Institute
DOI: 10.1093/jnci/69.6.1289
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 Leukemia
New England Journal of Medicine
Philip J. Fialkow and Jack W. Singer and John W. Adamson and Roger L. Berkow and Jan M. Friedman and Robert J. Jacobson and John W. Moohr
DOI: 10.1056/nejm197907053010101
07/1979

Rapidly adhering amniotic-fluid cells and prenatal diagnosis of neural tube defects
The Lancet
DOI: 10.1016/s0140-6736(79)90150-8
07/1979

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

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

Studies of the HLA Complex in Families of Children with Congenital Heart Disease
Tissue Antigens
J. M. Friedman and 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 and Jean I. Bryant and Jan M. Friedman
DOI: 10.1002/ijc.2910210417
04/1978

The genetics of Graves' disease
Clinics in Endocrinology and Metabolism
J.M. Friedman and 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 and James W. Hanson and C Benjamin Graham and David W. Smith
DOI: 10.1016/s0022-3476(77)80892-5
1977

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

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

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

The Jeune syndrome (asphyxiating thoracic dystrophy) in an adult
The American Journal of Medicine
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
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

Shelin Adam, Research Genetic Counsellor, Investigator
Hilal Al Shekaili, PhD Candidate
Sura Alwan, Bilingual Arabic-speaking Research Coordinator
Indhu Shree Rajan Babu, Postdoctoral Research Fellow
Patricia Birch, Research Manager, Investigator, BC Children's Hospital, Research Nurse
Megan Chan, Student
Madeline Couse, Bioinformatician
Nicolas Dragojlovic, Research Associate
Colleen Guimond, Genetic Counsellor
Julia Handra, Research Assistant
Axel Hauduc, Graduate Rotation Student
Elisa Lau, Undergrad Academic Asst
Jacqueline Li, Graduate Research Assistant
Nicole Liang, Research Assistant
Liza Mak, Administrative Coordinator
Jasmine Peng, Research Assistant
Anastasia Richardson, Program Manager
Kamran Shabbir, International visiting trainee - doctoral student:Trainee
Simya Surani, Project Assistant
Christele du Souich, Investigator, BC Children's Hospital