Bianca Elizabeth Russell

Title(s)HS Associate Clinical Professor, Pediatrics
SchoolMedicine
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    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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    Altmetrics Details 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.
    1. Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures. Am J Hum Genet. 2026 Jul 23. Reko N, Torabi-Marashi A, Kallurkar P, Goodman SJ, Awamleh Z, Turinsky AL, Grafodatskaya D, Russell BE, Chong K, Ko JM, Alkhunaizi E, Chitayat D, Greenfeld E, Scherer SW, McCready E, Weksberg R, Choufani S. PMID: 42492524.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    2. Truncating ASXL1 variants rewire cellular metabolism via mitochondrial pyruvate carrier repression. bioRxiv. 2026 Jul 17. Lin I, Reyes MSS, Krall AS, Vashist N, Sarkissian S, Matulionis N, Ning A, Stiles L, Russell BE, Medina PMB, Christofk HR, Arboleda VA. PMID: 42523271; PMCID: PMC13404655.
      View in: PubMed   Mentions:
    3. Loss-of-function variants in MARK2 cause neurodevelopmental disorder. HGG Adv. 2026 Jul 09; 7(3):100600. Yang Y, Shim YK, Miyake N, Takada S, Silva S, Peters-Foitzick A, Gupta AR, Neuhaus E, Bradley C, Taylor C, Russell B, Shrewsbury A, Michaelson JJ, Murali CN, Gerard A, Geltzeiler A, Chung WK, Chung HL. PMID: 41918168; PMCID: PMC13127627.
      View in: PubMed   Mentions:    Fields:    Translation:HumansAnimals
    4. LONP1 Variants Are Associated With Clinically Diverse Phenotypes. Clin Genet. 2026 03; 109(3):437-457. Young RE, Qiao L, Hernan R, Sweetser DA, Waxler JL, Scott DA, Scott TM, Lalani SR, Azamian MS, Rosenfeld JA, Bostwick B, Burrage LC, Undiagnosed Diseases Network, Rodan LH, Russell BE, Dutra-Clarke M, Kruer M, Bakhtiarim S, Darvish H, Amor DJ, Rahman S, Stals K, Bradley L, Byrne S, Tolusso LK, Wong B, Benedict L, Wallis K, Micke K, Colson C, Smol T, Southwick SV, Miller KA, Kush ML, Chorin O, Rothschild A, Wang W, Shen Y, Chung WK. PMID: 40931319; PMCID: PMC13261574.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    5. Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis. Am J Med Genet A. 2026 01; 200(1):35-58. Piring A, Hicks R, Sloan J, Ramires-Sanchez E, Russell BE. PMID: 40808361; PMCID: PMC12671694.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. Data-driven consideration of genetic disorders for global genomic newborn screening programs. Genet Med. 2025 Jul; 27(7):101443. Minten T, 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, International Consortium on Newborn Sequencing (ICoNS), Green RC, Gold NB. PMID: 40357684; PMCID: PMC12229768.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansPHPublic Health
    7. Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. NPJ Genom Med. 2025 May 09; 10(1):38. Keefe AC, Jensen DM, Pham MM, Au NYT, Beckman E, Penon-Portmann M, Shelkowitz E, Bend R, Morrow MM, Kruszka P, Vats D, Russell BE, Chan E, Wong D, Rabani A, O'Grady L, Sahai I, Widmeyer K, Sperry ED, Hallinan BE, Tryon R, Lund TC, Eichler FS, Sun A, Bennett JT. PMID: 40346069; PMCID: PMC12064771.
      View in: PubMed   Mentions:
    8. Data-driven consideration of genetic disorders for global genomic newborn screening programs. medRxiv. 2025 Mar 25. 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:
    9. Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus. Am J Hum Genet. 2025 01 02; 112(1):154-167. 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; PMCID: PMC11739878.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    10. 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: 1     Fields:    Translation:HumansCells
    11. Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly. Am J Hum Genet. 2024 12 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: 9     Fields:    Translation:HumansCells
    12. 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: 2     Fields:    Translation:Humans
    13. 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: 7     Fields:    Translation:HumansCells
    14. 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.
      View in: PubMed   Mentions: 1  
    15. 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: 1     Fields:    Translation:HumansCells
    16. 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: 3     Fields:    Translation:Humans
    17. 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:
    18. Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience. Epilepsia. 2024 01; 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: 7     Fields:    Translation:Humans
    19. 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: 3  
    20. 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: 8     Fields:    Translation:HumansCells
    21. 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: 6     Fields:    Translation:Humans
    22. 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: 4     Fields:    Translation:HumansAnimals
    23. 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:    Translation:Humans
    24. 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: 13     Fields:    Translation:HumansAnimalsCells
    25. 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:    Translation:Humans
    26. 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: 10     Fields:    Translation:Humans
    27. 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: 12     Fields:    Translation:Humans
    28. 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: 7  
    29. 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: 6     Fields:    Translation:HumansCells
    30. 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: 5     Fields:    Translation:Humans
    31. 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: 14     Fields:    Translation:Humans
    32. 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: 29     Fields:    Translation:Humans
    33. USEFUL: Ultrasound Exam for Underlying Lesions incorporated into physical exam. West J Emerg Med. 2014 May; 15(3):260-6. Steller J, Russell B, Lotfipour S, Maldonado G, Siepel T, Jakle H, Hata S, Chiem A, Fox JC. PMID: 24868302; PMCID: PMC4025521.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    34. 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: 14     Fields:    
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