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Nicholas Balanda · SciRah

Researcher profile · Semantic Scholar

Nicholas Balanda

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Nicholas Balanda — researcher profile on SciRah

h-index: 6
Works: 8
Citations: 1,101

Most-cited papers

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
D. Beck, M. Ferrada, K. Sikora, A. Ombrello +58 more
2020New England Journal of Medicine924 citations Open access
Semantic Scholar
VEXAS Syndrome: A Case Series From a Single‐Center Cohort of Italian Patients With Vasculitis
F. Muratore, C. Marvisi, P. Castrignanò, D. Nicoli +11 more
2021Arthritis & Rheumatology91 citations Open access
Semantic Scholar
Shared and distinct mechanisms of UBA1 inactivation across different diseases
J. Collins, Samuel J. Magaziner, Maya English, Bakar Hassan +15 more
2024EMBO Journal30 citations Open access
Semantic Scholar
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
J. Stephen, S. Maddirevula, S. Nampoothiri, J. D. Burke +34 more
2018American Journal of Human Genetics29 citations Open access
Semantic Scholar
Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases
J. Collins, Samuel J. Magaziner, Maya English, Bakar Hassan +15 more
2023bioRxiv17 citations Open access
Semantic Scholar
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome
T. Johnstone, Jennifer A. Wang, Daron L Ross, Nicholas Balanda +7 more
2020Molecular Genetics and Metabolism11 citations Open access
Semantic Scholar
Novel Disease-Causing Mutations in UBA1 Reveal Disease Mechanisms in Bone Marrow Failure and Inflammation
J. Collins, Nicholas Balanda, Samuel J. Magaziner, Maya English +6 more
2022Blood6 citations
Semantic Scholar
A Comprehensive, Multidisciplinary, Precision Medicine Approach to Discover Effective Therapy for an Undiagnosed, Progressive, Fibro-inflammatory Disease
B. Gochuico, S. G. Ziegler, N. Ten, Nicholas Balanda +6 more
2019Translational Research: The Journal of Laboratory and Clinical Medicine0 citations Open access
Semantic Scholar

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