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Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 10, 2026
MAJIQ-CLIN: A novel tool to help identify Mendelian disease-causing variants from RNA-Seq dataJoseph K Aicher, Dina Issakova, Barry Slaff, et al.
Medrxiv : the Preprint Server for Health Sciences|February 20, 2025
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq dataJoseph K Aicher, Dina Issakova, Barry Slaff, et al.
Biorxiv : the Preprint Server for Biology|February 14, 2024
NeuroTri2-VISDOT: An open-access tool to harness the power of second trimester human single cell data to inform models of Mendelian neurodevelopmental disordersKelly J Clark, Emily E Lubin, Elizabeth M Gonzalez, et al.
Molecular Genetics & Genomic Medicine|June 9, 2020
Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean familyWayne Thompson, Patrick Z Carey, Tyhiesia Donald, et al.
American Journal of Medical Genetics. Part A|May 22, 2019
Muenke syndrome: Medical and surgical comorbidities and long-term managementChaya N Murali, Donna M McDonald-McGinn, Tara Lynn Wenger, et al.
American Journal of Medical Genetics. Part A|April 29, 2025
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense VariantsRoser Urreizti, Jessica Vissicchio, Mohamed Idries, et al.
British Journal of Haematology|October 7, 2022
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variantYash B Shah, Ping Lin, Stone Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2016
Tracheal cartilaginous sleeves in children with syndromic craniosynostosisTara L Wenger, John Dahl, Elizabeth J Bhoj, et al.
European Journal of Human Genetics : EJHG|March 4, 2011
Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral developmentElizabeth J Bhoj, Purita Ramos, Linda A Baker, et al.
Journal of Translational Medicine|February 14, 2026
A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturationAnnabel K Sangree, Rajesh Angireddy, Janardhan P Bhattarai, et al.
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