Massively Parallel Sequencing: The Next Big Thing in Genetic Medicine
Tucker, Tracy, Marra, Marco, Friedman, Jan M.
Published in American journal of human genetics (14.08.2009)
Published in American journal of human genetics (14.08.2009)
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Journal Article
Specific SSRIs and birth defects: bayesian analysis to interpret new data in the context of previous reports
Reefhuis, Jennita, Devine, Owen, Friedman, Jan M, Louik, Carol, Honein, Margaret A
Published in BMJ (Online) (08.07.2015)
Published in BMJ (Online) (08.07.2015)
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Journal Article
The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
Dragojlovic, Nick, Borle, Kennedy, Kopac, Nicola, Ellis, Ursula, Birch, Patricia, Adam, Shelin, Friedman, Jan M, Nisselle, Amy, Elliott, Alison M, Lynd, Larry D
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Journal Article
Low risk of solid tumors in persons with Down syndrome
Hasle, Henrik, Friedman, Jan M., Olsen, Jørgen H., Rasmussen, Sonja A.
Published in Genetics in medicine (01.11.2016)
Published in Genetics in medicine (01.11.2016)
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Journal Article
Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences
Chiu, Readman, Rajan-Babu, Indhu-Shree, Friedman, Jan M, Birol, Inanc
Published in Genome Biology (13.08.2021)
Published in Genome Biology (13.08.2021)
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Journal Article
Exome Sequencing and Clinical Diagnosis
Friedman, Jan M, Jones, Kenneth Lyons, Carey, John C
Published in JAMA : the journal of the American Medical Association (18.08.2020)
Published in JAMA : the journal of the American Medical Association (18.08.2020)
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Journal Article
Maternal treatment with opioid analgesics and risk for birth defects
Broussard, Cheryl S., PhD, Rasmussen, Sonja A., MD, MS, Reefhuis, Jennita, PhD, Friedman, Jan M., MD, PhD, Jann, Michael W., PharmD, Riehle-Colarusso, Tiffany, MD, MSE, Honein, Margaret A., PhD, MPH
Published in American journal of obstetrics and gynecology (01.04.2011)
Published in American journal of obstetrics and gynecology (01.04.2011)
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Journal Article
The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists
Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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Journal Article
Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis—Reply
Friedman, Jan M, Jones, Kenneth Lyons, Carey, John C
Published in JAMA : the journal of the American Medical Association (15.12.2020)
Published in JAMA : the journal of the American Medical Association (15.12.2020)
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Journal Article
A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
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
Published in Orphanet journal of rare diseases (28.01.2014)
Published in Orphanet journal of rare diseases (28.01.2014)
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Journal Article
Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies
Friedman, Jan M., van Essen, Peter, van Karnebeek, Clara D.M.
Published in Molecular genetics and metabolism (01.12.2022)
Published in Molecular genetics and metabolism (01.12.2022)
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Journal Article
"I want to know what's in Pandora's box": Comparing stakeholder perspectives on incidental findings in clinical whole genomic sequencing
Townsend, Anne, Adam, Shelin, Birch, Patricia H., Lohn, Zoe, Rousseau, Francois, Friedman, Jan M.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Journal Article