Genetic Mosaics and the Germ Line Lineage

Por Samuels, Mark E., Friedman, Jan M.
Publicado no Genes (Basel) (2015)

Emerging Issues in Teratology: An Introduction

Por Rasmussen, Sonja A., Friedman, Jan M.
Publicado no Am J Med Genet C Semin Med Genet (2011)

Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine

Por Tucker, Tracy, Marra, Marco, Friedman, Jan M.
Publicado em 2009

Value for Money? Array Genomic Hybridization for Diagnostic Testing for Genetic Causes of Intellectual Disability

Por Regier, Dean A., Friedman, Jan M., Marra, Carlo A.
Publicado em 2010

Impact of BRCA Mutations on Female Fertility and Offspring Sex Ratio

Por MOSLEHI, ROXANA, SINGH, RANJANA, LESSNER, LAWRENCE, FRIEDMAN, JAN M.
Publicado em 2010

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

Por Reefhuis, Jennita, Devine, Owen, Friedman, Jan M, Louik, Carol, Honein, Margaret A
Publicado no BMJ (2015)

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

Por Tucker, Tracy, Giroux, Sylvie, Clément, Valérie, Langlois, Sylvie, Friedman, Jan M, Rousseau, François
Publicado em 2013

Vertebral scalloping in neurofibromatosis type 1: a quantitative approach

Por Kwok, Edmund S.H., Sawatzky, Bonita, Birch, Patricia, Friedman, Jan M., Tredwell, Stephen J.
Publicado em 2002

Different Patterns of Mast Cells Distinguish Diffuse from Encapsulated Neurofibromas in Patients with Neurofibromatosis 1

Por Tucker, Tracy, Riccardi, Vincent M., Sutcliffe, Margaret, Vielkind, Juergen, Wechsler, Janine, Wolkenstein, Pierre, Friedman, Jan M.
Publicado em 2011

Genomic newborn screening: public health policy considerations and recommendations

Por Friedman, Jan M., Cornel, Martina C., Goldenberg, Aaron J., Lister, Karla J., Sénécal, Karine, Vears, Danya F.
Publicado no BMC Med Genomics (2017)

Perceptions of genetic discrimination among people at risk for Huntington’s disease: a cross sectional survey

Por Bombard, Yvonne, Veenstra, Gerry, Friedman, Jan M, Creighton, Susan, Currie, Lauren, Paulsen, Jane S, Bottorff, Joan L, Hayden, Michael R
Publicado em 2009

Growth dynamics of plexiform neurofibromas: a retrospective cohort study of 201 patients with neurofibromatosis 1

Por Nguyen, Rosa, Dombi, Eva, Widemann, Brigitte C, Solomon, Jeffrey, Fuensterer, Carsten, Kluwe, Lan, Friedman, Jan M, Mautner, Victor-Felix
Publicado em 2012

Non-optic glioma in adults and children with neurofibromatosis 1

Por Sellmer, Laura, Farschtschi, Said, Marangoni, Marco, Heran, Manraj K. S., Birch, Patricia, Wenzel, Ralph, Friedman, Jan M., Mautner, Victor-Felix
Publicado no Orphanet J Rare Dis (2017)

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

Por Mautner, Victor-F., Asuagbor, Florence A., Dombi, Eva, Fünsterer, Carsten, Kluwe, Lan, Wenzel, Ralf, Widemann, Brigitte C., Friedman, Jan M.
Publicado em 2008

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

Por Bombard, Yvonne, Palin, JoAnne, Friedman, Jan M., Veenstra, Gerry, Creighton, Susan, Paulsen, Jane S., Bottorff, Joan L., Hayden, Michael R.
Publicado em 2010

The Sensitivity of Massively Parallel Sequencing for Detecting Candidate Infectious Agents Associated with Human Tissue

Por Moore, Richard A., Warren, René L., Freeman, J. Douglas, Gustavsen, Julia A., Chénard, Caroline, Friedman, Jan M., Suttle, Curtis A., Zhao, Yongjun, Holt, Robert A.
Publicado em 2011

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Por Zahir, Farah, Firth, Helen V, Baross, Agnes, Delaney, Allen D, Eydoux, Patrice, Gibson, William T, Langlois, Sylvie, Martin, Howard, Willatt, Lionel, Marra, Marco A, Friedman, Jan M
Publicado em 2007

Medications in the First Trimester of Pregnancy: Most Common Exposures and Critical Gaps in Understanding Fetal Risk

Por Thorpe, Phoebe G., Gilboa, Suzanne M., Hernandez-Diaz, Sonia, Lind, Jennifer, Cragan, Janet D., Briggs, Gerald, Kweder, Sandra, Friedman, Jan M., Mitchell, Allen A., Honein, Margaret A.
Publicado em 2013

A novel recurrent mutation in ATP1A3 causes CAPOS syndrome

Por Demos, Michelle K, van Karnebeek, Clara DM, Ross, Colin JD, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven JM, Friedman, Jan M
Publicado em 2014

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

Por Tucker, Tracy, Zahir, Farah R, Griffith, Malachi, Delaney, Allen, Chai, David, Tsang, Erica, Lemyre, Emmanuelle, Dobrzeniecka, Sylvia, Marra, Marco, Eydoux, Patrice, Langlois, Sylvie, Hamdan, Fadi F, Michaud, Jacques L, Friedman, Jan M
Publicado em 2014