Russell B - Search Results

1

Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.

Edmonds B, Ngo JP, Groves A, Reyes B, Gott RA, Chia DJ, Mirbaha H, Magaki S, Khanlou N, Pineles SL, Salamon N, Thompson RM, Newman M, Rajaraman RR, Hussain SA, Fallah A, Russell B, Nariai H. Edmonds B, et al. Among authors: russell b. Epilepsia Open. 2024 Oct 23. doi: 10.1002/epi4.13079. Online ahead of print. Epilepsia Open. 2024. PMID: 39442533 Free article.

2

Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience.

Goel K, Phillips HW, Chen JS, Ngo J, Edmonds B, Ha PX, Wang A, Weil A, Russell BE, Salamon N, Nariai H, Fallah A. Goel K, et al. Among authors: russell be. Epilepsia. 2024 Jan;65(1):57-72. doi: 10.1111/epi.17807. Epub 2023 Nov 11. Epilepsia. 2024. PMID: 37873610

3

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.

Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, Vona B, Rad A, Striano P, Salpietro V, Guillen Sacoto MJ, Zaki MS, Gleeson JG, Campeau PM, Russell BE, Houlden H. Efthymiou S, et al. Among authors: russell be. Epilepsia. 2021 Feb;62(2):e35-e41. doi: 10.1111/epi.16801. Epub 2021 Jan 7. Epilepsia. 2021. PMID: 33410539 Free PMC article.

4

Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).

Chenbhanich J, Hu Y, Hetts S, Cooke D, Dowd C, Devine P; UCLA Clinical Genomics Center; Russell B, Kang SHL, Chang VY, Abla AA, Cornett P, Yeh I, Lee H, Martinez-Agosto JA, Frieden IJ, Shieh JT. Chenbhanich J, et al. Among authors: russell b. Am J Med Genet A. 2021 May;185(5):1430-1436. doi: 10.1002/ajmg.a.62126. Epub 2021 Mar 8. Am J Med Genet A. 2021. PMID: 33683022

5

Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.

Russell BE, Kianmahd RR, Munster C, Yu A, Ahad L, Tan WH. Russell BE, et al. Am J Med Genet A. 2023 Apr;191(4):1050-1058. doi: 10.1002/ajmg.a.63125. Epub 2023 Feb 7. Am J Med Genet A. 2023. PMID: 36751885

6

Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).

Ayoub MC, Anderson JT, Russell BE, Wilson RB. Ayoub MC, et al. Among authors: russell be. Front Neurosci. 2023 Nov 6;17:1244176. doi: 10.3389/fnins.2023.1244176. eCollection 2023. Front Neurosci. 2023. PMID: 38027485 Free PMC article.

7

Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.

Ziegler M, Russell BE, Eberhardt K, Geisel G, D'Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. Ziegler M, et al. Neurol Genet. 2020 Dec 29;7(1):e544. doi: 10.1212/NXG.0000000000000544. eCollection 2021 Feb. Neurol Genet. 2020. PMID: 33553621 Free PMC article.

8

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.

Awamleh Z, Chater-Diehl E, Choufani S, Wei E, Kianmahd RR, Yu A, Chad L, Costain G, Tan WH, Scherer SW, Arboleda VA, Russell BE, Weksberg R. Awamleh Z, et al. Eur J Hum Genet. 2022 Jun;30(6):695-702. doi: 10.1038/s41431-022-01083-0. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361921 Free PMC article.

9

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.

Lin I, Wei A, Awamleh Z, Singh M, Ning A, Herrera A; REACH Biobank and Registry; Russell BE, Weksberg R, Arboleda VA. Lin I, et al. JCI Insight. 2023 May 22;8(10):e167744. doi: 10.1172/jci.insight.167744. JCI Insight. 2023. PMID: 37053013 Free PMC article.

10

Chromatinopathies - from discovery to clinical diagnosis in the real world.

Russell BE, Tan WH. Russell BE, et al. Hum Genet. 2024 Apr;143(4):471-473. doi: 10.1007/s00439-024-02665-2. Hum Genet. 2024. PMID: 38668862 No abstract available.

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