Publications by authors named "Elizabeth Bhoj"

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Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndrome.
Dong Li, Leticia S Matsuoka, Sarah Donoghue, Cuiping Hou, Alanna Strong, Elizabeth J Bhoj

Eur J Hum Genet· December 2025

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variants cause a novel neurodevelopmental syndrome with impaired JNK signaling in iPSC-derived neurons.
Tomoki T Nomakuchi, Alyssa L Rippert, Sabrina A Santos De León, Elizabeth M Gonzalez, Dong Li, Elizabeth J K Bhoj

medRxiv· December 2025

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Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.
Alanna Strong, Caoimhe McKenna, Karen Stals, Antonio Vitobello, Mathilde Renaud, Elizabeth Bhoj

Am J Med Genet A· October 2025

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Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.
Eden Teferedegn, Kosuke Izumi, Rebecca Ahrens-Nicklas, Elizabeth Bhoj, Alyssa Rippert

Am J Med Genet A· October 2025

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A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation.
Annabel K Sangree, Rajesh Angireddy, Janardhan P Bhattarai, Yingqi Wang, Laura M Bryant, Elizabeth J Bhoj

bioRxiv· September 2025

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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Elizabeth J Bhoj

Am J Med Genet A· September 2025

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Role of CAMK2D in neurodevelopment and associated conditions.
Pomme M F Rigter, Charlotte de Konink, Matthew J Dunn, Martina Proietti Onori, Jennifer B Humberson, Elizabeth Bhoj

Am J Hum Genet· September 2025

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Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorder.
Brianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, Leonardo Ramos-Rodriguez, Devin M Burris, Elizabeth J Bhoj

HGG Adv· September 2025

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TBCK Deficiency Alters Ribosomal Function, RNA Splicing, and miRNA Networks: Insights from Multi-Omics Analyses.
Abdias Diaz-Rosado, Kelly Clark, Rajesh Angireddy, Michael Gilbert, Annabel Sangree, Elizabeth Bhoj

bioRxiv· September 2025

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Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.
Charles W Ryan, Samantha L Regan, Jason B Sheingold, Anupam Goswami, Maureen Mulhern, Elizabeth Bhoj

Res Sq· August 2025

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Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies.
Emily E Lubin, Elizabeth M Gonzalez, Annabel K Sangree, Emily L Durham, Hannah Klinkhammer, Elizabeth J K Bhoj

HGG Adv· July 2025

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variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.
Raffaella De Pace, Carlos Dominguez Gonzalez, Chad D Williamson, Guy Helman, Leslie E Sanderson, Elizabeth Bhoj

medRxiv· July 2025

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Multimodal Characterization of Rodent Dental Development.
Yuchen Jiang, Kaitlin A Katsura, Nir Z Badt, Marius Didziokas, Sonia Dougherty, Elizabeth J Bhoj

ACS Appl Mater Interfaces· June 2025

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Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Nour Elkhateeb, Renarta Crookes, Michael Spiller, Lisa Pavinato, Flavia Palermo, Elizabeth Bhoj

Genet Med· March 2025

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MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data.
Joseph K Aicher, Dina Issakova, Barry Slaff, San Jewell, Nicholas F Lahens, Elizabeth J Bhoj

medRxiv· February 2025

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Expanding the clinical phenotype and variant spectrum associated with RFX7.
Talia Sisroe, Attila Dos Santos, Alyssa L Rippert, Christopher Gray, Cara M Skraban, Elizabeth J Bhoj

Am J Med Genet A· December 2024

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Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.
Tomoki T Nomakuchi, Eden Y Teferedegn, Dong Li, Kayla J Muirhead, Holly Dubbs, Elizabeth J K Bhoj

Am J Med Genet A· December 2024

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Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants.
Amir Hossein Saeidian, Michael E March, Leila Youssefian, Deborah J Watson, Esha Bhandari, Elizabeth Bhoj

Genet Med· November 2024

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Multi-modal characterization of rodent tooth development.
Yuchen Jiang, Kaitlin A Katsura, Nir Z Badt, Marius Didziokas, Sonia Dougherty, Elizabeth J Bhoj

bioRxiv· November 2024

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Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.
Alanna Strong, Michael E March, Christopher J Cardinale, Yichuan Liu, Mark R Battig, Elizabeth Bhoj

Genet Med· October 2024

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A Novel Human TBCK- Neuronal Cell Model Results in Severe Neurodegeneration and Partial Rescue with Mitochondrial Fission Inhibition.
Rajesh Angireddy, Bhanu Chandra Karisetty, Kaitlin A Katsura, Abdias Díaz, Svathi Murali, Elizabeth J K Bhoj

bioRxiv· October 2024

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Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.
Paranchai Boonsawat, Reza Asadollahi, Dunja Niedrist, Katharina Steindl, Anaïs Begemann, Elizabeth J Bhoj

Am J Hum Genet· September 2024

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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth J K Bhoj

Eur J Hum Genet· August 2024

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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree, Kelly J Clark, Emily L Durham, Elizabeth J K Bhoj

Eur J Hum Genet· August 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, Elizabeth Bhoj

Proc Natl Acad Sci U S A· March 2024

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