| Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome RO Rosti, BN Sotak, SL Bielas, G Bhat, JL Silhavy, AD Aslanger, ... Journal of medical genetics 54 (6), 399-403, 2017 | 74 | 2017 |
| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 64 | 2021 |
| Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered AH El-Gharbawy, G Bhat, JE Murillo, BL Thurberg, C Kampmann, ... Molecular genetics and metabolism 103 (4), 362-366, 2011 | 54 | 2011 |
| A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features I Marin-Valencia, G Novarino, A Johansen, B Rosti, MY Issa, D Musaev, ... Journal of medical genetics 55 (1), 48-54, 2018 | 49 | 2018 |
| PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive MS Zaki, G Bhat, T Sultan, M Issa, HJ Jung, E Dikoglu, L Selim, ... Annals of neurology 80 (1), 59-70, 2016 | 42 | 2016 |
| Xq11. 1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder G Bhat, D LaGrave, A Millson, J Herriges, AN Lamb, R Matalon European journal of medical genetics 59 (9), 470-473, 2016 | 24 | 2016 |
| Chromosomal microarray in prenatal diagnosis: case studies and clinical challenges K Leavitt, T Goldwaser, G Bhat, I Kalia, SD Klugman, SM Dolan Personalized Medicine 13 (3), 249-255, 2016 | 6 | 2016 |
| Biallelic variants in ITFG2, a subunit of the KICSTOR complex, affect mTOR signaling pathway and lead to a syndromic neurodevelopmental disorder E Cali, G Bhat, S Da'as, Y Kriouile, F Petit, K Poirier, S Efthymiou, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 60-61, 2024 | | 2024 |
| I. Chowdhury, B. Tharakan and GK Bhat, A Reuner, F Brümmer, RO Schill, JM Song, KW Nam, SG Kang, ... | | |
