Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome

Autor: Johnstone, Thomas, Wang, Jennifer, Ross, Daron, Balanda, Nicholas, Huang, Yan, Godfrey, Rena, Groden, Catherine, Barton, Brandon R., Gahl, William, Toro, Camilo, Malicdan, May Christine V.

Publikováno v: In Molecular Genetics and Metabolism September-October 2020 131(1-2):98-106

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism

Autor: Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steindl, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, Lee, Hane, Garrett, Lisa. J., Yokoyama, Tadafumi, Balanda, Nicholas, Bodine, Steven P., Tolman, Nathanial J., Zerfas, Patricia M., Zheng, Allison, Ramantani, Georgia, Girisha, Katta M., Rivas, Cecilia, Suresh, Pujar V., Elkahloun, Abdel, Alsaif, Hessa S., Wakil, Salma M., Mahmoud, Laila, Ali, Rehab, Prochazkova, Michaela, Kulkarni, Ashok B., Ben-Omran, Tawfeg, Colak, Dilek, Morris, H. Douglas, Rauch, Anita, Martinez-Agosto, Julian A., Nelson, Stanley F., Alkuraya, Fowzan S., Gahl, William A., Malicdan, May Christine V.

Publikováno v: In The American Journal of Human Genetics 6 December 2018 103(6):948-967

Vesicourachal Diverticulum: An Uncommon Incidental Finding on Staging ¹⁸F-FDG PET/CT in a Patient with Suspected Malignant Transformation of Neurofibromatosis.

Autor: Balanda, Nicholas J., Suthar, Pokhraj P., Virmani, Sumeet

Publikováno v: Journal of Nuclear Medicine Technology; Jun2024, Vol. 52 Issue 2, p173-174, 2p

Novel Disease-Causing Mutations in UBA1 Reveal Disease Mechanisms in Bone Marrow Failure and Inflammation

Autor: Collins, Jason C ^*, Balanda, Nicholas ^*, Magaziner, Samuel J ^*, English, Maya ^*, Ospina Cardona, Daniela ^*, Patnaik, Mrinal M., Terrier, Benjamin ^*, Kosmider, Olivier ^*, Werner, Achim ^*, Beck, David B. ^*

Publikováno v: In Blood 15 November 2022 140 Supplement 1:2914-2915

Vesicourachal Diverticulum: An Uncommon Incidental Finding on Staging ¹⁸ F-FDG PET/CT in a Patient with Suspected Malignant Transformation of Neurofibromatosis.

Autor: Balanda NJ; Rush University Medical Center, Chicago, Illinois., Suthar PP; Rush University Medical Center, Chicago, Illinois., Virmani S; Rush University Medical Center, Chicago, Illinois sumeet_virmani@rush.edu.

Publikováno v: Journal of nuclear medicine technology [J Nucl Med Technol] 2024 Jun 05; Vol. 52 (2), pp. 173-174. Date of Electronic Publication: 2024 Jun 05.