| CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly MS Hussain, SM Baig, S Neumann, VS Peche, S Szczepanski, ... Human molecular genetics 22 (25), 5199-5214, 2013 | 145 | 2013 |
| 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 | 75 | 2017 |
| Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage J Klar, J Piontek, S Milatz, M Tariq, M Jameel, T Breiderhoff, J Schuster, ... PLoS genetics 13 (7), e1006897, 2017 | 62 | 2017 |
| RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis M Farooq, L Lindbæk, N Krogh, C Doganli, C Keller, M Mönnich, ... Nature Communications 11 (1), 1-16, 2020 | 39 | 2020 |
| Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities Z Ali, J Klar, M Jameel, K Khan, A Fatima, R Raininko, S Baig, N Dahl Journal of the neurological sciences 371, 105-111, 2016 | 28 | 2016 |
| A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family M Farooq, A Fatima, Y Mang, L Hansen, KW Kjaer, SM Baig, LA Larsen, ... Journal of human genetics 61 (3), 271, 2016 | 26 | 2016 |
| DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors L Laan, J Klar, M Sobol, J Hoeber, M Shahsavani, M Kele, A Fatima, ... Clinical Epigenetics 12 (1), 1-14, 2020 | 19 | 2020 |
| Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy A Fatima, J Hoeber, J Schuster, E Koshimizu, C Maya-Gonzalez, B Keren, ... The American Journal of Human Genetics 108 (4), 739-748, 2021 | 18 | 2021 |
| Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 contribute to schizophrenia susceptibility in pakistani population A Fatima, M Farooq, U Abdullah, M Tariq, T Mustafa, M Iqbal, ... Psychiatry investigation 14 (5), 687, 2017 | 18 | 2017 |
| A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family U Abdullah, M Farooq, Y Mang, SM Bakhtiar, A Fatima, L Hansen, ... European journal of medical genetics 60 (12), 627-630, 2017 | 14 | 2017 |
| Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ EUH Makhdoom, SS Waseem, M Iqbal, U Abdullah, G Hussain, M Asif, ... Genes 12 (5), 731, 2021 | 12 | 2021 |
| Generation of three human induced pluripotent stem cell (iPSC) lines from three patients with Dravet syndrome carrying distinct SCN1A gene mutations J Schuster, A Fatima, M Sobol, FH Norradin, L Laan, N Dahl Stem cell research 39, 101523, 2019 | 11 | 2019 |
| Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families S Zulfiqar, M Tariq, Z Ali, A Fatima, J Klar, U Abdullah, A Ali, S Ramzan, ... Journal of Clinical Neuroscience 67, 19-23, 2019 | 9 | 2019 |
| Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele T Akram, A Fatima, J Klar, J Hoeber, M Zakaria, M Tariq, SM Baig, ... International Journal of Hematology 112 (6), 894-899, 2020 | 7 | 2020 |
| Generation of a human Neurochondrin deficient iPSC line KICRi002-A-3 using CRISPR/Cas9 A Fatima, J Schuster, T Akram, M Sobol, J Hoeber, N Dahl Stem Cell Research, 101758, 2020 | 7 | 2020 |
| Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant J Schuster, M Sobol, A Fatima, A Khalfallah, L Laan, BM Anderlid, ... Stem cell research 39, 101518, 2019 | 6 | 2019 |
| Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis U Abdullah, M Farooq, A Fatima, W Tauseef, Y Sarwar, M Nuri, ... Nephrology 22 (10), 818-820, 2017 | 5 | 2017 |
| Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations J Schuster, A Fatima, F Schwarz, J Klar, L Laan, N Dahl Stem cell research, 101474, 2019 | 4 | 2019 |
| Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi‐allelic skipping of RTTN exon 42 M Zakaria, A Fatima, J Klar, J Wikström, U Abdullah, Z Ali, T Akram, ... Human mutation, 2019 | 4 | 2019 |
| Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21) J Schuster, J Hoeber, M Sobol, A Fatima, G Annerén, N Dahl Stem Cell Research 49, 102081, 2020 | 3 | 2020 |
