DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
Murray, Michael F., Giovanni, Monica A., Doyle, Debra L., Harrison, Steven M., Lyon, Elaine, Manickam, Kandamurugu, Monaghan, Kristin G., Rasmussen, Sonja A., Scheuner, Maren T., Palomaki, Glenn E., Watson, Michael S.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study
Palomaki, Glenn E, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Deciu, Cosmin, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A
Published in Genetics in medicine (01.11.2011)
Published in Genetics in medicine (01.11.2011)
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Journal Article
DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
Palomaki, Glenn E, Deciu, Cosmin, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A
Published in Genetics in medicine (01.03.2012)
Published in Genetics in medicine (01.03.2012)
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Journal Article
The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: methods of the EGAPP Working Group
Teutsch, Steven M., Bradley, Linda A., Palomaki, Glenn E., Haddow, James E., Piper, Margaret, Calonge, Ned, Dotson, W. David, Douglas, Michael P., Berg, Alfred O.
Published in Genetics in medicine (01.01.2009)
Published in Genetics in medicine (01.01.2009)
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Journal Article
Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review
Bradley, Linda A, Haddow, Hamish R M, Palomaki, Glenn E
Published in Genetics in medicine (01.11.2017)
Published in Genetics in medicine (01.11.2017)
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Journal Article
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
Mazloom, Amin R., Džakula, Željko, Oeth, Paul, Wang, Huiquan, Jensen, Taylor, Tynan, John, McCullough, Ron, Saldivar, Juan-Sebastian, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Maeder, Margo, McLennan, Graham, Meschino, Wendy, Palomaki, Glenn E., Canick, Jacob A., Deciu, Cosmin
Published in Prenatal diagnosis (01.06.2013)
Published in Prenatal diagnosis (01.06.2013)
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Journal Article
DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations
Canick, Jacob A., Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Deciu, Cosmin, Palomaki, Glenn E.
Published in Prenatal diagnosis (01.08.2012)
Published in Prenatal diagnosis (01.08.2012)
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Journal Article
High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
Jensen, Taylor J, Zwiefelhofer, Tricia, Tim, Roger C, Džakula, Željko, Kim, Sung K, Mazloom, Amin R, Zhu, Zhanyang, Tynan, John, Lu, Tim, McLennan, Graham, Palomaki, Glenn E, Canick, Jacob A, Oeth, Paul, Deciu, Cosmin, van den Boom, Dirk, Ehrich, Mathias
Published in PloS one (06.03.2013)
Published in PloS one (06.03.2013)
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Journal Article
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Palomaki, Glenn E., Bupp, Caleb, Gregg, Anthony R., Norton, Mary E., Oglesbee, Devin, Best, Robert G.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Journal Article
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
Bean, Lora J.H., Scheuner, Maren T., Murray, Michael F., Biesecker, Leslie G., Green, Robert C., Monaghan, Kristin G., Palomaki, Glenn E., Sharp, Richard R., Trotter, Tracy L., Watson, Michael S., Powell, Cynthia M.
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Journal Article
Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises
Palomaki, Glenn E., Wyatt, Philip, Best, Robert Glen, Lepage, Nathalie, Ashwood, Edward R., Souers, Rhona J., Thorson, John A.
Published in Genetics in medicine (01.04.2020)
Published in Genetics in medicine (01.04.2020)
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Journal Article
Where have all the trisomies gone?
Palomaki, Glenn E., PhD, Lambert-Messerlian, Geralyn M., PhD, Haddow, James E., MD
Published in American journal of obstetrics and gynecology (01.11.2016)
Published in American journal of obstetrics and gynecology (01.11.2016)
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Journal Article
Confusion between analytic validity and clinical validity
Palomaki, Glenn E., PhD, Haddow, James E., MD
Published in American journal of obstetrics and gynecology (01.10.2016)
Published in American journal of obstetrics and gynecology (01.10.2016)
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Journal Article
Preeclampsia at delivery is associated with lower serum vitamin D and higher antiangiogenic factors: a case control study
Seifer, David B, Lambert-Messerlian, Geralyn, Palomaki, Glenn E, Silver, Robert M, Parker, Corette, Rowland Hogue, Carol J, Stoll, Barbara J, Saade, George R, Goldenberg, Robert L, Dudley, Donald J, Bukowski, Radek, Pinar, Halit, Reddy, Uma M
Published in Reproductive biology and endocrinology (06.01.2022)
Published in Reproductive biology and endocrinology (06.01.2022)
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Journal Article
Assessing the Requirement for the 6-Hour Interval between Specimens in the American Heart Association Classification of Myocardial Infarction in Epidemiology and Clinical Research Studies
MacRae, Andrew R, Kavsak, Peter A, Lustig, Viliam, Bhargava, Rakesh, Vandersluis, Rudy, Palomaki, Glenn E, Yerna, Marie-Jeanne, Jaffe, Allan S
Published in Clinical chemistry (Baltimore, Md.) (01.05.2006)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2006)
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Journal Article
Free Thyroxine During Early Pregnancy and Risk for Gestational Diabetes
Haddow, James E, Craig, Wendy Y, Neveux, Louis M, Palomaki, Glenn E, Lambert-Messerlian, Geralyn, Malone, Fergal D, D'Alton, Mary E
Published in PloS one (24.02.2016)
Published in PloS one (24.02.2016)
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Journal Article
First- and second-trimester thyroid hormone reference data in pregnant women: a FaSTER (First- and Second-Trimester Evaluation of Risk for aneuploidy) Research Consortium study
Lambert-Messerlian, Geralyn, PhD, McClain, Monica, PhD, Haddow, James E., MD, Palomaki, Glenn E., BS, Canick, Jacob A., PhD, Cleary-Goldman, Jane, MD, Malone, Fergal D., MD, Porter, T. Flint, MD, Nyberg, David A., MD, Bernstein, Peter, MD, D'Alton, Mary E., MD
Published in American journal of obstetrics and gynecology (01.07.2008)
Published in American journal of obstetrics and gynecology (01.07.2008)
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Journal Article
EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome
Palomaki, Glenn E., McClain, Monica R., Melillo, Stephanie, Hampel, Heather L., Thibodeau, Stephen N.
Published in Genetics in medicine (01.01.2009)
Published in Genetics in medicine (01.01.2009)
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Journal Article
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
Watson, Michael S., Cutting, Garry R., Desnick, Robert J., Driscoll, Deborah A., Klinger, Katherine, Mennuti, Michael, Palomaki, Glenn E., Popovich, Bradley W., Pratt, Victoria M., Rohlfs, Elizabeth M., Strom, Charles M., Richards, C. Sue, Witt, David R., Grody, Wayne W.
Published in Genetics in medicine (01.09.2004)
Published in Genetics in medicine (01.09.2004)
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Journal Article