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Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee. Deignan JL, et al. Among authors: monaghan kg. Genet Med. 2019 Jun;21(6):1267-1270. doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24. Genet Med. 2019. PMID: 31015575 Free PMC article. No abstract available.
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 Free article. Review. No abstract available.
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.
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 Free article. 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 Free article.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study; Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T. Snijders Blok L, et al. Among authors: monaghan kg. Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30. Am J Hum Genet. 2015. PMID: 26235985 Free PMC article.
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Tanaka AJ, et al. Among authors: monaghan kg. Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299366 Free PMC article.
125 results