Baker EK - Search Results

1

Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.

Baker EK, Brewer CJ, Ferreira L, Schapiro M, Tenney J, Wied HM, Kline-Fath BM, Smolarek TA, Weaver KN, Hopkin RJ. Baker EK, et al. Am J Med Genet A. 2023 Feb;191(2):526-539. doi: 10.1002/ajmg.a.63057. Epub 2022 Nov 25. Am J Med Genet A. 2023. PMID: 36433683 Free PMC article. Review.

2

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.

Hu X, Baker EK, Johnson J, Balow S, Pena LDM, Conlin LK, Guan Q, Smolarek TA. Hu X, et al. Among authors: baker ek. Mol Cytogenet. 2022 Mar 5;15(1):10. doi: 10.1186/s13039-022-00579-0. Mol Cytogenet. 2022. PMID: 35248119 Free PMC article.

3

PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.

Baker EK, Solivio B, Pode-Shakked B, Cross LA, Sullivan B, Raas-Rothschild A, Chorin O, Barel O, Bar-Yosef O, Husami A, Hopkin RJ, Prada CE, Stottmann RW, Weaver KN. Baker EK, et al. Am J Med Genet A. 2022 Nov;188(11):3262-3277. doi: 10.1002/ajmg.a.62946. Epub 2022 Aug 15. Am J Med Genet A. 2022. PMID: 36209351

4

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Baker EK, Al Gharaibeh FN, Bove K, Calvo-Garcia MA, Shillington A, VandenHeuvel K, Cortezzo DE. Baker EK, et al. Am J Med Genet A. 2023 Jun;191(6):1646-1651. doi: 10.1002/ajmg.a.63188. Epub 2023 Mar 25. Am J Med Genet A. 2023. PMID: 36965156

5

RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.

Baker EK, Han J, Langley WA, Reott MA Jr, Hallinan BE, Hopkin RJ, Zhang W. Baker EK, et al. Mol Genet Genomics. 2023 Sep;298(5):1185-1199. doi: 10.1007/s00438-023-02044-y. Epub 2023 Jun 20. Mol Genet Genomics. 2023. PMID: 37340120 Review.

6

Phenotypes and genotypes in a cohort of children with single-ventricle CHD.

Baker EK, Shikany A, Winlaw DS, Weaver KN. Baker EK, et al. Cardiol Young. 2024 Apr;34(4):815-821. doi: 10.1017/S1047951123003505. Epub 2023 Oct 18. Cardiol Young. 2024. PMID: 37850440

7

Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.

Baker EK, Ulm EA, Belonis A, Brightman DS, Hallinan BE, Leslie ND, Miethke AG, Vawter-Lee M, Wu Y, Pena LDM. Baker EK, et al. Front Genet. 2022 Jul 22;13:887698. doi: 10.3389/fgene.2022.887698. eCollection 2022. Front Genet. 2022. PMID: 35937981 Free PMC article.

8

Blonde hair, blue eyes.

Baker EK. Baker EK. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32106. doi: 10.1002/ajmg.c.32106. Epub 2024 Aug 21. Am J Med Genet C Semin Med Genet. 2024. PMID: 39166720 No abstract available.

9

Clinical, Immunologic, and Genetic Characteristics in Patients with Syndrome of Undifferentiated Recurrent Fevers (SURF).

Macaraeg M, Baker E, Handorf E, Matt M, Baker EK, Brunner H, Grom AA, Henrickson M, Huggins J, Zhang W, Lee P, Marsh R, Schulert GS. Macaraeg M, et al. Among authors: baker ek. Arthritis Rheumatol. 2024 Dec 2. doi: 10.1002/art.43065. Online ahead of print. Arthritis Rheumatol. 2024. PMID: 39622767

10

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders.

Frazier TW, Busch RM, Klaas P, Lachlan K, Loth E, Smith-Hicks C, Sahin M, Hardan AY, Uljarevic M; NET Development Project Team. Frazier TW, et al. Dev Med Child Neurol. 2024 Nov 11. doi: 10.1111/dmcn.16112. Online ahead of print. Dev Med Child Neurol. 2024. PMID: 39526825

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

84 results

Search Page

Filters