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

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

308 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
FREM1 Autosomal Recessive Disorders.
Li C, Slavotinek A. Li C, et al. Among authors: slavotinek a. 2008 Jul 9 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Jul 9 [updated 2025 May 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301721 Free Books & Documents. Review.
A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
Beale HC, Tse V, Lee JY, Akutagawa J, Mavura Y, Saint-John B, Cheney A, Mulligan DR, Chacaltana G, Gutierrez M, Tenney J, Shieh JT, Martin PM, Yip T, Hodoglugil U, Fay AJ, Brooks AN, Van Ziffle J, Stone MD, Risch N, Sanford JR, Devine P, Saba JD, Vaske OM, Slavotinek A. Beale HC, et al. Among authors: slavotinek a. medRxiv [Preprint]. 2025 Apr 11:2025.04.04.25325118. doi: 10.1101/2025.04.04.25325118. medRxiv. 2025. PMID: 40297416 Free PMC article. Preprint.
Genomic sequencing in diverse and underserved pediatric populations: Parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Biesecker BB, Ackerman SL, Brothers KB, East KM, Foreman AKM, Hindorff LA, Horowitz CR, Jarvik GP, Knight SJ, Leo MC, Patrick DL, Rini C, Robinson JO, Sahin-Hodoglugil NN, Slavotinek A, Suckiel SA, Veenstra DL, Zinberg RE, Hunter JE. Biesecker BB, et al. Among authors: slavotinek a. Genet Med. 2025 Apr;27(4):101363. doi: 10.1016/j.gim.2025.101363. Epub 2025 Jan 19. Genet Med. 2025. PMID: 39846247
Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014.
Mitchell DL, Chambers TM, Agopian AJ, Benjamin RH, Shumate CJ, Slavotinek A, Hufnagel RB, Brooks BP, Mitchell LE, Lupo PJ. Mitchell DL, et al. Among authors: slavotinek a. Birth Defects Res. 2024 Nov;116(11):e2413. doi: 10.1002/bdr2.2413. Birth Defects Res. 2024. PMID: 39530497
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: slavotinek a. Eur J Hum Genet. 2025 Mar;33(3):312-324. doi: 10.1038/s41431-024-01701-z. Epub 2024 Oct 24. Eur J Hum Genet. 2025. PMID: 39448799 Free PMC article.
AXIN1 mutations in nonsyndromic craniosynostosis.
Timberlake AT, Hemal K, Gustafson JA, Hao LT, Valenzuela I, Slavotinek A, Cunningham ML, Kahle KT, Lifton RP, Persing JA. Timberlake AT, et al. Among authors: slavotinek a. J Neurosurg Pediatr. 2024 Jun 21;34(3):246-251. doi: 10.3171/2024.5.PEDS24115. Print 2024 Sep 1. J Neurosurg Pediatr. 2024. PMID: 38905707 Free PMC article.
308 results