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Carrier screening in individuals of Ashkenazi Jewish descent.
Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Gross SJ, et al. Among authors: monaghan kg. Genet Med. 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c. Genet Med. 2008. PMID: 18197057 Free PMC article.
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. Jansen S, et al. Among authors: monaghan kg. Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24. Eur J Hum Genet. 2019. PMID: 30679813 Free PMC article.
Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations.
Monaghan KG, Bluhm D, Phillips M, Feldman GL. Monaghan KG, et al. Genet Med. 2004 May-Jun;6(3):141-4. doi: 10.1097/01.gim.0000127269.42279.83. Genet Med. 2004. PMID: 15354332
Cystic Fibrosis testing among Arab-Americans.
Wei S, Feldman GL, Monaghan KG. Wei S, et al. Among authors: monaghan kg. Genet Med. 2006 Apr;8(4):255-8. doi: 10.1097/01.gim.0000214453.74456.f3. Genet Med. 2006. PMID: 16617247
Is cystic fibrosis carrier screening cost effective?
Wei S, Quigg MH, Monaghan KG. Wei S, et al. Among authors: monaghan kg. Community Genet. 2007;10(2):103-9. doi: 10.1159/000099088. Community Genet. 2007. PMID: 17380060
The future is now: carrier screening for all populations.
Pletcher BA, Gross SJ, Monaghan KG, Driscoll DA, Watson MS. Pletcher BA, et al. Among authors: monaghan kg. Genet Med. 2008 Jan;10(1):33-6. doi: 10.1097/GIM.0b013e31815f5934. Genet Med. 2008. PMID: 18197054 Review. No abstract available.
Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population.
Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Monaghan KG, et al. Genet Med. 2008 Jan;10(1):57-72. doi: 10.1097/GIM.0b013e31815f6eac. Genet Med. 2008. PMID: 18197058
ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.
Monaghan KG, Benkendorf J, Cherry AM, Gross SJ, Richards CS, Sutton VR, Watson MS; Laboratory Quality Assurance Committee of the American College of Medical Genetics and Genomics; Professional Practice and Guidelines Committee of the American College of Medical Genetics and Genomics. Monaghan KG, et al. Genet Med. 2013 Apr;15(4):314-5. doi: 10.1038/gim.2012.178. Epub 2013 Jan 24. Genet Med. 2013. PMID: 23348768 No abstract available.
ACMG statement on noninvasive prenatal screening for fetal aneuploidy.
Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, Thompson BH, Watson MS. Gregg AR, et al. Among authors: monaghan kg. Genet Med. 2013 May;15(5):395-8. doi: 10.1038/gim.2013.29. Epub 2013 Apr 4. Genet Med. 2013. PMID: 23558255
ACMG position statement on prenatal/preconception expanded carrier screening.
Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. Grody WW, et al. Among authors: monaghan kg. Genet Med. 2013 Jun;15(6):482-3. doi: 10.1038/gim.2013.47. Epub 2013 Apr 25. Genet Med. 2013. PMID: 23619275
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