| A cross-disorder dosage sensitivity map of the human genome RL Collins, JT Glessner, E Porcu, M Lepamets, R Brandon, C Lauricella, ... Cell 185 (16), 3041-3055. e25, 2022 | 183 | 2022 |
| SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder V Del Dotto, F Ullah, I Di Meo, P Magini, M Gusic, A Maresca, L Caporali, ... The Journal of clinical investigation 130 (1), 108-125, 2020 | 83 | 2020 |
| Mutations of KIF14 cause primary microcephaly by impairing cytokinesis A Moawia, R Shaheen, S Rasool, SS Waseem, N Ewida, B Budde, ... Annals of neurology 82 (4), 562-577, 2017 | 82 | 2017 |
| Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy E Bonora, S Chakrabarty, G Kellaris, M Tsutsumi, F Bianco, C Bergamini, ... Brain 144 (5), 1451-1466, 2021 | 38 | 2021 |
| Bi-allelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, cerebral malformations, and dysmorphic facial features M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, J Iwaszkiewicz, ... The American Journal of Human Genetics 104 (6), 1073-1087, 2019 | 24 | 2019 |
| Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical … Z Ali, S Zulfiqar, J Klar, J Wikström, F Ullah, A Khan, U Abdullah, S Baig, ... BMC Medical Genetics 18, 1-6, 2017 | 24 | 2017 |
| Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy LJ Grange, JJ Reynolds, F Ullah, B Isidor, RF Shearer, X Latypova, ... Nature communications 13 (1), 6664, 2022 | 23 | 2022 |
| A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss F Ullah, W Rauf, K Khan, S Khan, KM Bell, VC de Oliveira, M Tariq, ... Human genetics 140, 1733-1751, 2021 | 23 | 2021 |
| A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review S Faryal, M Farooq, U Abdullah, Z Ali, SM Saadi, F Ullah, K Khan, ... European Journal of Medical Genetics 64 (7), 104226, 2021 | 7 | 2021 |
| Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish V Patterson, F Ullah, L Bryant, D Li, JN Griffin, A Sidhu, S Saliganan, ... Science advances 9 (17), eade0631, 2023 | 3 | 2023 |
| A recessive mutation in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, and hearing loss F Ullah, W Rauf, K Khan, S Khan, V Oliveira, K Bell, M Tariq, ... EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 218-218, 2022 | | 2022 |
| Biallelic variants in DYNC1I2 cause syndromic microcephaly with intellectual disability, global developmental delay and dysmorphic facial features EE Davis, M Ansar, F Ullah, SA Paracha, DJ Adams, A Lai, L Pais, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1385-1386, 2019 | | 2019 |
| Mutations in LIG3 are a novel cause of mitochondrial neurogastrointestinal encephalomyopathy E Bonora, F Bianco, C Bergamini, G Kellaris, F Ullah, F Isidori, I Liparulo, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 1159-1160, 2019 | | 2019 |
