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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Wojcik MH, et al. Among authors: russell be. Am J Med Genet A. 2023 Jul;191(7):1900-1910. doi: 10.1002/ajmg.a.63226. Epub 2023 May 14. Am J Med Genet A. 2023. PMID: 37183572
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.
Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM Jr. Russell B, et al. Am J Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131. Epub 2015 Apr 29. Am J Med Genet A. 2015. PMID: 25921057 Free PMC article.
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. 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
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.
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK; Undiagnosed Diseases Network; Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. Andrews JC, et al. Among authors: russell be. Genet Med. 2023 Jun;25(6):100833. doi: 10.1016/j.gim.2023.100833. Epub 2023 Mar 31. Genet Med. 2023. PMID: 37013900
33 results