Publications by authors named "Bianca Russell"

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Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL-Related Disorders: A Cross-Sectional Caregiver Survey Analysis.
Amanda Piring, Rebecca Hicks, Julia Sloan, Estefania Ramires-Sanchez, Bianca E Russell

Am J Med Genet A· January 2026

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Bianca E Russell

Clin Genet· September 2025

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Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Thomas Minten, Sarah Bick, Sophia Adelson, Nils Gehlenborg, Laura M Amendola, Bianca E Russell

Genet Med· July 2025

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Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing.
Alexandra C Keefe, Dana M Jensen, Meranda M Pham, Natalie Y T Au, Erika Beckman, Bianca E Russell

NPJ Genom Med· May 2025

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Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Thomas Minten, Sarah Bick, Sophia Adelson, Nils Gehlenborg, Laura M Amendola, Bianca E Russell

medRxiv· March 2025

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Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.
Benjamin Edmonds, Jacqueline P Ngo, Aran Groves, Beck Reyes, Rolanda A Gott, Bianca Russell

Epilepsia Open· December 2024

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Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly.
Yulia Mostovoy, Philip M Boone, Yongqing Huang, Kiran V Garimella, Kar-Tong Tan, Bianca E Russell

Am J Hum Genet· December 2024

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ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3.
Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew Wan, Leroy Bondhus, Bianca E Russell

BMC Med Genomics· November 2024

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Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function.
Giovanna Carpentieri, Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Bianca E Russell

HGG Adv· October 2024

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Complex genomic rearrangements of the Y chromosome in a premature infant.
Stephanie A Balow, Alyxis G Coyan, Nicki Smith, Bianca E Russell, Danielle Monteil

Mol Cytogenet· August 2024

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Chromatinopathies - from discovery to clinical diagnosis in the real world.
Bianca E Russell, Wen-Hann Tan

Hum Genet· April 2024

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The spectrum of heart defects in the -related multiple congenital anomalies-intellectual disability syndrome.
Elise Pisan, Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Bianca E Russell

Proc Natl Acad Sci U S A· March 2024

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Hemispheric epilepsy surgery for hemimegalencephaly: The UCLA experience.
Keshav Goel, H Westley Phillips, Jia-Shu Chen, Jacqueline Ngo, Benjamin Edmonds, Bianca E Russell

Epilepsia· January 2024

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Genetic variants in contribute to Autism Spectrum Disorder associated with the Xp22.11 locus.
Marcello Scala, Clarrisa A Bradley, Jennifer L Howe, Brett Trost, Nelson Bautista Salazar, Bianca E Russell

medRxiv· December 2023

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Examining the neurodevelopmental and motor phenotypes of Bohring-Opitz syndrome (ASXL1) and Bainbridge-Ropers syndrome (ASXL3).
Maya C Ayoub, Jeffrey T Anderson, Bianca E Russell, Rujuta B Wilson

Front Neurosci· November 2023

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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Monica H Wojcik, Siddharth Srivastava, Pankaj B Agrawal, Tugce B Balci, Bert Callewaert, Bianca E Russell

Am J Med Genet A· July 2023

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De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.
Jonathan C Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Bianca E Russell

Genet Med· June 2023

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Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation.
Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Bianca E Russell

JCI Insight· May 2023

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Clinical findings in 39 individuals with Bohring-Opitz syndrome from a global patient-driven registry with implications for tumor surveillance and recurrence risk.
Bianca E Russell, Rebecca R Kianmahd, Chelsea Munster, Anna Yu, Leena Ahad

Am J Med Genet A· April 2023

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DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Zain Awamleh, Eric Chater-Diehl, Sanaa Choufani, Elizabeth Wei, Rebecca R Kianmahd, Bianca E Russell

Eur J Hum Genet· June 2022

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Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With Variants.
Payam Mohassel, Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Bianca Russell

Neurology· March 2022

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Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Jirat Chenbhanich, Yan Hu, Steven Hetts, Daniel Cooke, Christopher Dowd, Bianca Russell

Am J Med Genet A· May 2021

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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Stephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Bianca E Russell

Epilepsia· February 2021

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Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7.
Marvin Ziegler, Bianca E Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore

Neurol Genet· February 2021

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