| Transcriptional regulator PRDM12 is essential for human pain perception YC Chen, M Auer-Grumbach, S Matsukawa, M Zitzelsberger, ... Nature genetics 47 (7), 803-808, 2015 | 196 | 2015 |
| Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication PL Chavali, L Stojic, LW Meredith, N Joseph, MS Nahorski, TJ Sanford, ... Science 357 (6346), 83-88, 2017 | 187 | 2017 |
| A new locus‐specific database (LSDB) for mutations in the folliculin (FLCN) gene DHK Lim, PK Rehal, MS Nahorski, F Macdonald, T Claessens, ... Human mutation 31 (1), E1043-E1051, 2010 | 117 | 2010 |
| Investigation of the Birt–Hogg–Dube tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer MS Nahorski, DHK Lim, L Martin, JJP Gille, K McKay, PK Rehal, ... Journal of medical genetics 47 (6), 385-390, 2010 | 104 | 2010 |
| Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ... Brain 141 (7), 1934-1945, 2018 | 96 | 2018 |
| A novel disorder reveals clathrin heavy chain-22 is essential for human pain and touch development MS Nahorski, L Al-Gazali, J Hertecant, DJ Owen, GHH Borner, YC Chen, ... Brain 138 (8), 2147-2160, 2015 | 61 | 2015 |
| Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis MS Nahorski, L Seabra, A Straatman-Iwanowska, A Wingenfeld, ... Human molecular genetics 21 (24), 5268-5279, 2012 | 60 | 2012 |
| New Mendelian disorders of painlessness MS Nahorski, YC Chen, CG Woods Trends in neurosciences 38 (11), 712-724, 2015 | 50 | 2015 |
| Birt Hogg‐Dubé syndrome‐associated FLCN mutations disrupt protein stability MS Nahorski, A Reiman, DHK Lim, RK Nookala, L Seabra, X Lu, J Fenton, ... Human mutation 32 (8), 921-929, 2011 | 49 | 2011 |
| A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV) SS Shaikh, YC Chen, SA Halsall, MS Nahorski, K Omoto, GT Young, ... Human mutation 38 (1), 55-63, 2017 | 46 | 2017 |
| PLAA mutations cause a lethal infantile epileptic encephalopathy by disrupting ubiquitin-mediated endolysosomal degradation of synaptic proteins EA Hall, MS Nahorski, LM Murray, R Shaheen, E Perkins, ... The American Journal of Human Genetics 100 (5), 706-724, 2017 | 45 | 2017 |
| CCDC88A mutations cause PEHO-like syndrome in humans and mouse MS Nahorski, M Asai, E Wakeling, A Parker, N Asai, N Canham, ... Brain 139 (4), 1036-1044, 2016 | 31 | 2016 |
| Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12 C Moss, SM Srinivas, N Sarveswaran, M Nahorski, VK Gowda, ... British journal of dermatology 179 (5), 1135-1140, 2018 | 29 | 2018 |
| Human labor pain is influenced by the voltage-gated potassium channel KV6. 4 subunit MC Lee, MS Nahorski, JRF Hockley, VB Lu, G Ison, LA Pattison, G Callejo, ... Cell reports 32 (3), 2020 | 24 | 2020 |
| Therapeutic targeting the loss of the birt-hogg-dube suppressor gene X Lu, W Wei, J Fenton, MS Nahorski, E Rabai, A Reiman, L Seabra, ... Molecular cancer therapeutics 10 (1), 80-89, 2011 | 23 | 2011 |
| Clathrin heavy chain 22 contributes to the control of neuropeptide degradation and secretion during neuronal development MS Nahorski, GHH Borner, SS Shaikh, AK Davies, L Al-Gazali, ... Scientific reports 8 (1), 2340, 2018 | 20 | 2018 |
| A third HSAN5 mutation disrupts the nerve growth factor furin cleavage site SS Shaikh, MS Nahorski, CG Woods Molecular pain 14, 1744806918809223, 2018 | 19 | 2018 |
| PEHO syndrome: the endpoint of different genetic epilepsies M Chitre, MS Nahorski, K Stouffer, B Dunning-Davies, H Houston, ... Journal of Medical Genetics 55 (12), 803-813, 2018 | 17 | 2018 |
| Before progressing from “exomes” to “genomes”… don’t forget splicing variants SS Shaikh, MS Nahorski, H Rai, CG Woods European Journal of Human Genetics 26 (11), 1559-1562, 2018 | 13 | 2018 |
| New developments in the pathogenesis of pulmonary cysts in Birt–Hogg–Dubé syndrome JC Kennedy, D Khabibullin, Y Boku, W Shi, EP Henske Seminars in Respiratory and Critical Care Medicine 41 (02), 247-255, 2020 | 11 | 2020 |
