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Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet. 2020 Sep 3;107(3):499-513. doi: 10.1016/j.ajhg.2020.06.018. Epub 2020 Jul 27.
Am J Hum Genet. 2020.
PMID: 32721402
Free PMC article.
Pericentromeric regions of homozygosity on the X chromosome: Another likely benign population variant.
Barrie ES, Li Y, Lamb-Thrush D, Hashimoto S, Matthews T, Mouhlas D, Pyatt R, Reshmi SC, Gastier-Foster JM, Pfau R, Astbury C.
Barrie ES, et al. Among authors: mouhlas d.
Eur J Med Genet. 2018 Jul;61(7):416-420. doi: 10.1016/j.ejmg.2018.02.008. Epub 2018 Mar 20.
Eur J Med Genet. 2018.
PMID: 29572065
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Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR, Lee K, Pfau RB, Reshmi SC, Corsmeier DJ, Hashimoto S, Dave-Wala A, Jayaraman V, Koboldt D, Matthews T, Mouhlas D, Stein M, McKinney A, Grossman T, Kelly BJ, White P, Magrini V, Wilson RK, Mardis ER, Cottrell CE.
Miller CR, et al. Among authors: mouhlas d.
Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005231. doi: 10.1101/mcs.a005231. Print 2020 Jun.
Cold Spring Harb Mol Case Stud. 2020.
PMID: 32371413
Free PMC article.
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A Decade's Experience in Pediatric Chromosomal Microarray Reveals Distinct Characteristics Across Ordering Specialties.
Mathew MT, Antoniou A, Ramesh N, Hu M, Gaither J, Mouhlas D, Hashimoto S, Humphrey M, Matthews T, Hunter JM, Reshmi S, Schultz M, Lee K, Pfau R, Cottrell C, McBride KL, Navin NE, Chaudhari BP, Leung ML.
Mathew MT, et al. Among authors: mouhlas d.
J Mol Diagn. 2022 Sep;24(9):1031-1040. doi: 10.1016/j.jmoldx.2022.06.001. Epub 2022 Jun 16.
J Mol Diagn. 2022.
PMID: 35718094
Free article.
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Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital.
Swaminathan R, Huang Y, Miller K, Pastore M, Hashimoto S, Jacobson T, Mouhlas D, Lin S.
Swaminathan R, et al. Among authors: mouhlas d.
Front Genet. 2018 Feb 21;9:54. doi: 10.3389/fgene.2018.00054. eCollection 2018.
Front Genet. 2018.
PMID: 29515625
Free PMC article.
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Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a de novo MSH2 mutation.
Zajo K, Colace SI, Mouhlas D, Erdman SH.
Zajo K, et al. Among authors: mouhlas d.
BMJ Case Rep. 2020 Jul 1;13(7):e233935. doi: 10.1136/bcr-2019-233935.
BMJ Case Rep. 2020.
PMID: 32611652
Free PMC article.
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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.
Olayiwola JO, Marhabaie M, Koboldt D, Matthews T, Siemon A, Mouhlas D, Porter T, Kyle G, Myers C, Mei H, Hou YC, Babcock M, Hunter J, Schieffer KM, Akkari Y, Reshmi S, Cottrell C, Mathew MT, Leung ML.
Olayiwola JO, et al. Among authors: mouhlas d.
Mol Genet Genomic Med. 2024 Mar;12(3):e2349. doi: 10.1002/mgg3.2349. Epub 2024 Jan 23.
Mol Genet Genomic Med. 2024.
PMID: 38263869
Free PMC article.
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