Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 1
2007 3
2009 1
2010 1
2012 2
2013 1
2016 2
2017 1
2018 2
2019 2
2020 2
2021 2
2022 1
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

20 results

Results by year

Filters applied: . Clear all
Page 1
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM, Thompson ML, Finnila CR, Hiatt SM, Latner DR, Amaral MD, Lawlor JMJ, East KM, Cochran ME, Greve V, Kelley WV, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kandasamy J, Carlo W, Brothers KB, Kirmse BM, Savich R, Superneau D, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genet Med. 2022 Apr;24(4):851-861. doi: 10.1016/j.gim.2021.11.020. Epub 2021 Nov 27. Genet Med. 2022. PMID: 34930662 Free PMC article.
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Among authors: amaral md. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN. Wright CA, et al. Among authors: amaral md. Cold Spring Harb Mol Case Stud. 2023 Jul 11;9(3):a006271. doi: 10.1101/mcs.a006271. Print 2023 Jun. Cold Spring Harb Mol Case Stud. 2023. PMID: 37308299 Free PMC article.
Contributions of rare and common variation to early-onset and atypical dementia risk.
Wright CA, Taylor JW, Cochran M, Lawlor JMJ, Moyers BA, Amaral MD, Bonnstetter ZT, Carter P, Solomon V, Myers RM, Love MN, Geldmacher DS, Cooper SJ, Roberson ED, Cochran JN. Wright CA, et al. Among authors: amaral md. medRxiv [Preprint]. 2023 Feb 8:2023.02.06.23285383. doi: 10.1101/2023.02.06.23285383. medRxiv. 2023. PMID: 36798301 Free PMC article. Updated. Preprint.
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Thompson ML, Finnila CR, Bowling KM, Brothers KB, Neu MB, Amaral MD, Hiatt SM, East KM, Gray DE, Lawlor JMJ, Kelley WV, Lose EJ, Rich CA, Simmons S, Levy SE, Myers RM, Barsh GS, Bebin EM, Cooper GM. Thompson ML, et al. Among authors: amaral md. Genet Med. 2018 Dec;20(12):1635-1643. doi: 10.1038/gim.2018.53. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790872 Free PMC article.
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Snijders Blok L, Vino A, den Hoed J, Underhill HR, Monteil D, Li H, Reynoso Santos FJ, Chung WK, Amaral MD, Schnur RE, Santiago-Sim T, Si Y, Brunner HG, Kleefstra T, Fisher SE. Snijders Blok L, et al. Among authors: amaral md. Genet Med. 2021 Mar;23(3):534-542. doi: 10.1038/s41436-020-01016-6. Epub 2020 Oct 28. Genet Med. 2021. PMID: 33110267 Free PMC article.
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases.
Cochran JN, Geier EG, Bonham LW, Newberry JS, Amaral MD, Thompson ML, Lasseigne BN, Karydas AM, Roberson ED, Cooper GM, Rabinovici GD, Miller BL, Myers RM, Yokoyama JS; Alzheimer’s Disease Neuroimaging Initiative. Cochran JN, et al. Among authors: amaral md. Am J Hum Genet. 2020 May 7;106(5):632-645. doi: 10.1016/j.ajhg.2020.03.010. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330418 Free PMC article.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Liu N, Schoch K, Luo X, Pena LDM, Bhavana VH, Kukolich MK, Stringer S, Powis Z, Radtke K, Mroske C, Deak KL, McDonald MT, McConkie-Rosell A, Markert ML, Kranz PG, Stong N, Need AC, Bick D, Amaral MD, Worthey EA, Levy S; Undiagnosed Diseases Network (UDN); Wangler MF, Bellen HJ, Shashi V, Yamamoto S. Liu N, et al. Among authors: amaral md. Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. doi: 10.1093/hmg/ddy146. Hum Mol Genet. 2018. PMID: 29726930 Free PMC article.
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Lemke AA, Thompson ML, Gimpel EC, McNamara KC, Rich CA, Finnila CR, Cochran ME, Lawlor JMJ, East KM, Bowling KM, Latner DR, Hiatt SM, Amaral MD, Kelley WV, Greve V, Gray DE, Felker SA, Meddaugh H, Cannon A, Luedecke A, Jackson KE, Hendon LG, Janani HM, Johnston M, Merin LA, Deans SL, Tuura C, Hughes T, Williams H, Laborde K, Neu MB, Patrick-Esteve J, Hurst ACE, Kirmse BM, Savich R, Spedale SB, Knight SJ, Barsh GS, Korf BR, Cooper GM, Brothers KB. Lemke AA, et al. Among authors: amaral md. J Pers Med. 2023 Jun 21;13(7):1026. doi: 10.3390/jpm13071026. J Pers Med. 2023. PMID: 37511639 Free PMC article.
20 results