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 Custom Filters

Results by year

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

Year Number of Results
2015 3
2016 5
2017 7
2018 7
2019 5
2020 7
2021 9
2022 2
2023 3
2024 0

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

43 results

Results by year

Filters applied: . Clear all
Page 1
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis.
Sanders M, Lawlor JMJ, Li X, Schuen JN, Millard SL, Zhang X, Buck L, Grysko B, Uhl KL, Hinds D, Stenger CL, Morris M, Lamb N, Levy H, Bupp C, Prokop JW. Sanders M, et al. Hum Genet. 2021 Mar;140(3):423-439. doi: 10.1007/s00439-020-02211-w. Epub 2020 Jul 30. Hum Genet. 2021. PMID: 32734384 Free PMC article.
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.
Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN, Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA; DDD study; McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD, Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. Snijders Blok L, et al. Hum Genet. 2018 May;137(5):375-388. doi: 10.1007/s00439-018-1887-y. Epub 2018 May 8. Hum Genet. 2018. PMID: 29740699 Free PMC article.
Computational and Experimental Analysis of Genetic Variants.
Prokop JW, Jdanov V, Savage L, Morris M, Lamb N, VanSickle E, Stenger CL, Rajasekaran S, Bupp CP. Prokop JW, et al. Compr Physiol. 2022 Mar 29;12(2):3303-3336. doi: 10.1002/cphy.c210012. Compr Physiol. 2022. PMID: 35578967
Evolutionary Landscape of SOX Genes to Inform Genotype-to-Phenotype Relationships.
Underwood A, Rasicci DT, Hinds D, Mitchell JT, Zieba JK, Mills J, Arnold NE, Cook TW, Moustaqil M, Gambin Y, Sierecki E, Fontaine F, Vanderweele S, Das AS, Cvammen W, Sirpilla O, Soehnlen X, Bricker K, Alokaili M, Green M, Heeringa S, Wilstermann AM, Freeland TM, Qutob D, Milsted A, Jauch R, Triche TJ Jr, Krawczyk CM, Bupp CP, Rajasekaran S, Francois M, Prokop JW. Underwood A, et al. Genes (Basel). 2023 Jan 14;14(1):222. doi: 10.3390/genes14010222. Genes (Basel). 2023. PMID: 36672963 Free PMC article.
SLC6A1 G443D associated with developmental delay and epilepsy.
Devries S, Mulder M, Charron JG, Prokop JW, Mark PR. Devries S, et al. Cold Spring Harb Mol Case Stud. 2020 Aug 25;6(4):a005371. doi: 10.1101/mcs.a005371. Print 2020 Aug. Cold Spring Harb Mol Case Stud. 2020. PMID: 32660967 Free PMC article.
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
Hiatt SM, Thompson ML, Prokop JW, Lawlor JMJ, Gray DE, Bebin EM, Rinne T, Kempers M, Pfundt R, van Bon BW, Mignot C, Nava C, Depienne C, Kalsner L, Rauch A, Joset P, Bachmann-Gagescu R, Wentzensen IM, McWalter K, Cooper GM. Hiatt SM, et al. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14. Am J Hum Genet. 2019. PMID: 30879638 Free PMC article.
43 results