Bianca Russell

Also affiliated with Center for Human Genetics, Institute of Human Genetics

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 19 papers. Top paper: “DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes”.

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

European Journal of Human Genetics(2022)10.1038/s41431-022-01083-0

N/A

0.510DataRank · unranked

29 citations

Eric Chater‐Diehl, Sanaa Choufani, Elizabeth Y Wei, Rebecca R. Kianmahd, Anna Yu +8 more

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

Neurology(2022)10.1212/wnl.0000000000200032

N/A

0.360DataRank · unranked

10 citations

Ning Chang, Kaoru Inoue, Angela Delaney, Ying Hu, Sandra Donkervoort +17 more

De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

Genetics in Medicine(2023)10.1016/j.gim.2023.100833

N/A

0.359DataRank · unranked

6 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +95 more

De Novo Variants in MRTFB have gain of function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.06.518921

N/A

0DataRank · unranked

0 citations

Jung-Wan Mok, Oguz Kanca, Sharayu Jangam, Cynthia J. Tifft, Ellen F. Macnamara +9 more

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

JCI Insight(2023)10.1172/jci.insight.167744

N/A

0DataRank · unranked

13 citations

Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera +4 more

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63226

N/A

0DataRank · unranked

10 citations

Siddharth Srivastava, Pankaj B. Agrawal, Tuğçe B. Balcı, Bert Callewaert, Pier Luigi Calvo +35 more

Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locus

medRxiv(2023)10.1101/2023.12.21.23300383

N/A

0DataRank · unranked

4 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +22 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.07.555775

N/A

0DataRank · unranked

0 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +13 more

Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.10.006

N/A

0DataRank · unranked

23 citations

Philip M. Boone, Yongqing Huang, Kiran Garimella, Kar‐Tong Tan, Bianca Russell +17 more

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.003

N/A

0DataRank · unranked

10 citations

Clarrisa A. Bradley, Jennifer Howe, Brett Trost, Nelson Bautista Salazar, Carole Shum +29 more

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349

N/A

0DataRank · unranked

8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

Multi‐disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series

Epilepsia Open(2024)10.1002/epi4.13079

N/A

0DataRank · unranked

5 citations

Jacqueline Ngo, Aran Groves, Beck Reyes, Rolanda A. Gott, Dennis J. Chia +13 more

The spectrum of heart defects in the TRAF7 -related multiple congenital anomalies-intellectual disability syndrome

Proceedings of the National Academy of Sciences(2024)10.1073/pnas.2317601121

N/A

0DataRank · unranked

4 citations

Chiara De Luca, Francesco Brancati, Rossana Sanchez Russo, Dong Li, Elizabeth Bhoj +29 more

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3

BMC Medical Genomics(2024)10.1186/s12920-024-02039-7

N/A

0DataRank · unranked

3 citations

Zain Awamleh, Mili Sinvhal, Andrew C.A. Wan, Leroy Bondhus, Angela Wei +4 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

LONP1 Variants Are Associated With Clinically Diverse Phenotypes

Clinical Genetics(2025)10.1111/cge.70057

N/A

0DataRank · unranked

1 citations

Lu Qiao, Rebecca Hernan, David A. Sweetser, Jessica L. Waxler, Daryl A. Scott +34 more

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL ‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64216

N/A

0DataRank · unranked

0 citations

Rebecca Hicks, Julia Sloan, Estefania Ramires‐Sanchez, Bianca Russell, Amanda Piring

Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.15.520167

N/A

0DataRank · unranked

3 citations

Angela Wei, Zain Awamleh, Meghna Singh, Aileen Ning, Analeyla Herrera +4 more

ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.15.519823

N/A

0DataRank · unranked

1 citations

Zain Awamleh, Angela Wei, Bianca Russell, Rosanna Weksberg, Valerie A. Arboleda +1 more