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
1974 1
1984 2
1985 1
1986 2
1988 1
1990 1
1992 4
1993 2
1994 1
1999 1
2010 2
2012 1
2014 1
2015 1
2016 2
2020 1
2021 2
2022 6
2023 3
2024 4
2025 1

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

37 results

Results by year

Filters applied: . Clear all
Page 1
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: huggins e. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
The Global ALPL gene variant classification project: Dedicated to deciphering variants.
Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, Högler W. Farman MR, et al. Among authors: huggins e. Bone. 2024 Jan;178:116947. doi: 10.1016/j.bone.2023.116947. Epub 2023 Oct 26. Bone. 2024. PMID: 37898381 Free article.
Recommendations to improve the patient experience and avoid bias when prenatal screening/testing.
Meredith S, Brackett S, Diaz KM, Freeman KG, Huggins E, Khan H, Leach MW, Levitz M, Michie M, Onufer J, Skotko BG, Smith L, Nicole White A, Waller T, Ayers K; Prenatal Subcommittee of the Center for Dignity in Healthcare for People with Disabilities. Meredith S, et al. Among authors: huggins e. Disabil Health J. 2023 Apr;16(2):101401. doi: 10.1016/j.dhjo.2022.101401. Epub 2022 Nov 5. Disabil Health J. 2023. PMID: 36463093
Diabetic ketoalkalosis in children and adults.
Huggins EA, Chillag SA, Rizvi AA, Moran RR, Durkin MW. Huggins EA, et al. South Med J. 2014 Jan;107(1):6-10. doi: 10.1097/SMJ.0000000000000040. South Med J. 2014. PMID: 24389778
Medication Management to Ameliorate Post-Intensive Care Syndrome.
Stollings JL, Bloom SL, Huggins EL, Grayson SL, Jackson JC, Sevin CM. Stollings JL, et al. Among authors: huggins el. AACN Adv Crit Care. 2016 Apr-Jun;27(2):133-40. doi: 10.4037/aacnacc2016931. AACN Adv Crit Care. 2016. PMID: 27153300 No abstract available.
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Beaman MM, Yin W, Smith AJ, Sears PR, Leigh MW, Ferkol TW, Kearney B, Olivier KN, Kimple AJ, Clarke S, Huggins E, Nading E, Jung SH, Iyengar AK, Zou X, Dang H, Barrera A, Majoros WH, Rehder CW, Reddy TE, Ostrowski LE, Allen AS, Knowles MR, Zariwala MA, Crawford GE. Beaman MM, et al. Among authors: huggins e. Am J Med Genet A. 2025 Feb;197(2):e63880. doi: 10.1002/ajmg.a.63880. Epub 2024 Oct 4. Am J Med Genet A. 2025. PMID: 39364610
37 results