Bianca Russell • UCLA Profiles

Bianca Elizabeth Russell

Title(s)	HS Assistant Clinical Professor, Pediatrics
School	Medicine
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Publications

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.

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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3. BMC Med Genomics. 2024 Nov 29; 17(1):282. Lin I, Awamleh Z, Sinvhal M, Wan A, Bondhus L, Wei A, Russell BE, Weksberg R, Arboleda VA. PMID: 39614348; PMCID: PMC11606099.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans Cells
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. Am J Hum Genet. 2024 Nov 28. Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Mendes M, Reuter MS, Anagnostou E, MacDonald JR, Ko SY, Frankland PW, Charlebois J, Elsabbagh M, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV, Undiagnosed Diseases Network, Douine ED, Corona RI, Russell BE, Nelson SF, Graziano C, Schwab M, Simone L, Zara F, Scherer SW. PMID: 39706195.

View in: PubMed Mentions: 1 Fields:
Gen Genetics
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. Am J Hum Genet. 2024 Dec 05; 111(12):2693-2706. Mostovoy Y, Boone PM, Huang Y, Garimella KV, Tan KT, Russell BE, Salani M, de Esch CEF, Lemanski J, Curall B, Hauenstein J, Lucente D, Bowers T, DeSmet T, Gabriel S, Morton CC, Meyerson M, Hastie AR, Gusella J, Quintero-Rivera F, Brand H, Talkowski ME. PMID: 39520989; PMCID: PMC11639088.

View in: PubMed Mentions: Fields:
Gen Genetics
Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series. Epilepsia Open. 2024 Dec; 9(6):2510-2517. 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. PMID: 39442533; PMCID: PMC11633684.

View in: PubMed Mentions: 1 Fields:
Neu Neurology
Translation:Humans
Data-driven prioritization of genetic disorders for global genomic newborn screening programs. medRxiv. 2024 Sep 16. Minten T, Gold NB, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H, ICoNS Gene List Contributors, Bick D, Green RC, International Consortium on Newborn Sequencing (ICoNS). PMID: 38585998; PMCID: PMC10996735.

View in: PubMed Mentions:
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. HGG Adv. 2024 Oct 10; 5(4):100349. Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, Pietrantoni A, Ciolfi A, Ferilli M, Calderan C, Cappuccio G, Martinelli S, Messina E, Caputo V, Hüffmeier U, Mignot C, Auvin S, Capri Y, Lourenco CM, Russell BE, Neustad A, Brunetti Pierri N, Keren B, Reis A, Cohen JS, Heidlebaugh A, Smith C, Thiel CT, Salviati L, Zampino G, Campeau PM, Stella L, Tartaglia M, Flex E. PMID: 39210597; PMCID: PMC11465052.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans Cells
Complex genomic rearrangements of the Y chromosome in a premature infant. Mol Cytogenet. 2024 Aug 26; 17(1):19. Balow SA, Coyan AG, Smith N, Russell BE, Monteil D, Hopkin RJ, Smolarek TA. PMID: 39183314; PMCID: PMC11346217.

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Chromatinopathies - from discovery to clinical diagnosis in the real world. Hum Genet. 2024 Apr; 143(4):471-473. Russell BE, Tan WH. PMID: 38668862.

View in: PubMed Mentions: Fields:
Gen Genetics
Translation:Humans Cells
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. Proc Natl Acad Sci U S A. 2024 Mar 19; 121(12):e2317601121. Pisan E, De Luca C, Brancati F, Sanchez Russo R, Li D, Bhoj E, Wenger T, Marwaha A, Johnson N, Beneteau C, Brischoux-Boucher E, Houge G, Paulsen J, Hammer TB, Ek J, Schweitzer D, Russell BE, Dutra-Clarke M, Nelson S, Douine ED, Corona RI, Dudding T, Thomson H, Low K, Belnap N, Iascone M, Priolo M, Carli D, Mussa A, Bijlsma EK, Kopp N, Jais JP, Amiel J, Gordon CT. PMID: 38466850; PMCID: PMC10962964.

View in: PubMed Mentions: Fields:
Sci Science
Translation:Humans
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus. medRxiv. 2023 Dec 27. Scala M, Bradley CA, Howe JL, Trost B, Salazar NB, Shum C, Reuter MS, MacDonald JR, Ko SY, Frankland PW, Granger L, Anadiotis G, Pullano V, Brusco A, Keller R, Parisotto S, Pedro HF, Lusk L, McDonnell PP, Helbig I, Mullegama SV, Undiagnosed Diseases Network, Douine ED, Russell BE, Nelson SF, Zara F, Scherer SW. PMID: 38234782; PMCID: PMC10793518.

View in: PubMed Mentions:
Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience. Epilepsia. 2024 Jan; 65(1):57-72. Goel K, Phillips HW, Chen JS, Ngo J, Edmonds B, Ha PX, Wang A, Weil A, Russell BE, Salamon N, Nariai H, Fallah A. PMID: 37873610.

View in: PubMed Mentions: 4 Fields:
Bra Brain Neu Neurology
Translation:Humans
Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3). Front Neurosci. 2023; 17:1244176. Ayoub MC, Anderson JT, Russell BE, Wilson RB. PMID: 38027485; PMCID: PMC10657810.

View in: PubMed Mentions: 1
Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation. JCI Insight. 2023 05 22; 8(10). Lin I, Wei A, Awamleh Z, Singh M, Ning A, Herrera A, REACH Biobank and Registry, Russell BE, Weksberg R, Arboleda VA. PMID: 37053013; PMCID: PMC10322691.

View in: PubMed Mentions: 4 Fields:
Med Medicine (General)
Translation:Humans Cells
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. 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. PMID: 37183572; PMCID: PMC10330231.

View in: PubMed Mentions: 3 Fields:
Gen Genetics
Translation:Humans
De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 06; 25(6):100833. 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. PMID: 37013900; PMCID: PMC11533975.

View in: PubMed Mentions: 1 Fields:
Gen Genetics
Translation:Humans Animals
Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk. Am J Med Genet A. 2023 04; 191(4):1050-1058. Russell BE, Kianmahd RR, Munster C, Yu A, Ahad L, Tan WH. PMID: 36751885.

View in: PubMed Mentions: 4 Fields:
Gen Genetics
Translation:Humans
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes. Eur J Hum Genet. 2022 06; 30(6):695-702. 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. PMID: 35361921; PMCID: PMC9177544.

View in: PubMed Mentions: 9 Fields:
Gen Genetics
Translation:Humans Animals Cells
Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants. Neurology. 2022 03 29; 98(13):e1384-e1396. Mohassel P, Chang N, Inoue K, Delaney A, Hu Y, Donkervoort S, Saade D, Billioux BJ, Meader B, Volochayev R, Konersman CG, Kaindl AM, Cho CH, Russell B, Rodriguez A, Foster KW, Foley AR, Moore SA, Jones PL, Bonnemann CG, Jones T, Shaw ND. PMID: 35121673; PMCID: PMC8967428.

View in: PubMed Mentions: 3 Fields:
Neu Neurology
Translation:Humans
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). Am J Med Genet A. 2021 05; 185(5):1430-1436. 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. PMID: 33683022.

View in: PubMed Mentions: 4 Fields:
Gen Genetics
Translation:Humans
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia. 2021 02; 62(2):e35-e41. 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. PMID: 33410539; PMCID: PMC7898547.

View in: PubMed Mentions: 9 Fields:
Bra Brain Neu Neurology
Translation:Humans
Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. Ziegler M, Russell BE, Eberhardt K, Geisel G, D'Amore A, Sahin M, Kornblum HI, Ebrahimi-Fakhari D. PMID: 33553621; PMCID: PMC7862086.

View in: PubMed Mentions: 6
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5). Delaney A, Volochayev R, Meader B, Lee J, Almpani K, Noukelak GY, Henkind J, Chalmers L, Law JR, Williamson KA, Jacobsen CM, Buitrago TP, Perez O, Cho CH, Kaindl A, Rauch A, Steindl K, Garcia JE, Russell BE, Prasad R, Mondal UK, Reigstad HM, Clements S, Kim S, Inoue K, Arora G, Salnikov KB, DiOrio NP, Prada R, Capri Y, Morioka K, Mizota M, Zechi-Ceide RM, Kokitsu-Nakata NM, Tonello C, Vendramini-Pittoli S, da Silva Dalben G, Balasubramanian R, Dwyer AA, Seminara SB, Crowley WF, Plummer L, Hall JE, Graham JM, Lin AE, Shaw ND. PMID: 32034419; PMCID: PMC7108682.

View in: PubMed Mentions: 4 Fields:
End Endocrinology Met Metabolism
Translation:Humans Cells
Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features. Mol Genet Genomic Med. 2019 11; 7(11):e969. Russell BE, Rigueur D, Weaver KN, Sund K, Basil JS, Hufnagel RB, Prows CA, Oestreich A, Al-Gazali L, Hopkin RJ, Saal HM, Lyons K, Dauber A. PMID: 31493347; PMCID: PMC6825850.

View in: PubMed Mentions: 4 Fields:
Gen Genetics Mol Molecular Biology
Translation:Humans
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Hepatology. 2019 09; 70(3):1066-1070. Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. PMID: 30912852; PMCID: PMC11108097.

View in: PubMed Mentions: 10 Fields:
Gas Gastroenterology
Translation:Humans
Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. Am J Med Genet A. 2015 Sep; 167A(9):2122-31. 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. PMID: 25921057; PMCID: PMC4760347.

View in: PubMed Mentions: 27 Fields:
Gen Genetics
Translation:Humans
Expanding our knowledge of conditions associated with the ASXL gene family. Genome Med. 2013; 5(2):16. Russell B, Graham JM. PMID: 23672984; PMCID: PMC3706972.

View in: PubMed Mentions: 13 Fields:
Gen Genetics