Bianca Russell - Dissemin

All papers authored by Bianca Russell

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2023 Bianca E. Russell

, Rebecca R. Kianmahd

, Chelsea Munster, Anna Yu, Leena Ahad

, Wen‐Hann Tan

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

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2022 Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell

, Rosanna Weksberg, Valerie A. Arboleda

ASXL1mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

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Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera, Bianca Russell

, Rosanna Weksberg, Valerie A. Arboleda

Multi-omics on truncatingASXL1mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

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Jonathan C. Andrews, Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia Tifft, Ellen F. Macnamara, Bianca Russell

, Lee-Kai Wang, Stanley F. Nelson, Hugo J. Bellen, Shinya Yamamoto, May Malicdan, Michael F. Wangler

De NovoVariants inMRTFBhave gain of function activity inDrosophilaand are associated with a novel neurodevelopmental phenotype with dysmorphic features

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K. Wade Foster, Payam Mohassel

, Ning Chang

, Kaoru Inoue

, Angela Delaney, Ying Hu, Sandra Donkervoort, Dimah Saade

, Billioux Bj, B. Jeanne Billioux, B. Jeanne Billioux, Brooke Meader, Rita Volochayev, Konersman Cg, Chamindra G. Konersman and 15 other authors

Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

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2021 Jirat Chenbhanich, Yan Hu, Steven Hetts, Daniel Cooke

, Christopher Dowd, Patrick Devine, Clinical Genomics Center Ucla, Bianca Russell

, Sung Hae L. Kang, Vivian Y. Chang, Adib A. Abla, Patricia Cornett, Iwei Yeh, Hane Lee, Julian A. Martinez Agosto and 2 other authors

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

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This paper is made freely available by the publisher.

2020 Marvin Ziegler, Bianca E. Russell

, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore

, Mustafa Sahin, Harley I. Kornblum, Darius Ebrahimi-Fakhari

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

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2019 Bianca E. Russell

, Diana Rigueur, Kathryn N. Weaver, Kristen Sund, Janet S. Basil, Robert B. Hufnagel, Cynthia A. Prows, Alan Oestreich, Lihadh Al‐Gazali, Robert J. Hopkin

, Howard M. Saal, Karen Lyons, Andrew Dauber

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

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Bianca E. Russell

, Kaitlin G. Whaley, Kevin E. Bove, Anatalia Labilloy, Rachel C. Lombardo, Robert J. Hopkin, Nancy D. Leslie, Carlos Prada, Zahra Assouline, Giulia Barcia, Juliette Bouchereau, Maryline Chomton, Dominique Debray, Imen Dorboz, Philippe Durand and 18 other authors

Expanding and Underscoring the Hepato‐Encephalopathic Phenotype of QIL1/MIC13

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All papers authored by Bianca Russell