| Homozygous mutations in CSF1R cause a pediatric-onset leukoencephalopathy and can result in congenital absence of microglia N Oosterhof, IJ Chang, EG Karimiani, LE Kuil, DM Jensen, R Daza, ... The American Journal of Human Genetics 104 (5), 936-947, 2019 | 191 | 2019 |
| AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ... Nature communications 10 (1), 3094, 2019 | 184 | 2019 |
| Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis GV Harlalka, A Lehman, B Chioza, EL Baple, R Maroofian, H Cross, ... Brain 136 (12), 3618-3624, 2013 | 133 | 2013 |
| Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents D Yan, D Tekin, G Bademci, J Foster, FB Cengiz, A Kannan-Sundhari, ... Human genetics 135, 953-961, 2016 | 130 | 2016 |
| A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency S Volpi, MP Cicalese, P Tuijnenburg, ATJ Tool, E Cuadrado, ... Journal of Allergy and Clinical Immunology 143 (6), 2296-2299, 2019 | 91 | 2019 |
| Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome SG Ghosh, K Becker, H Huang, T Dixon-Salazar, G Chai, V Salpietro, ... The American Journal of Human Genetics 103 (3), 431-439, 2018 | 72 | 2018 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 72 | 2017 |
| Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy DC Pant, I Dorboz, A Schluter, S Fourcade, N Launay, J Joya, ... The Journal of clinical investigation 129 (3), 1240-1256, 2019 | 69 | 2019 |
| Genetic, phenotypic, and interferon biomarker status in ADAR1-related neurological disease GI Rice, N Kitabayashi, M Barth, TA Briggs, ACE Burton, ML Carpanelli, ... Neuropediatrics 48 (03), 166-184, 2017 | 69 | 2017 |
| Biallelic variants in KIF14 cause intellectual disability with microcephaly P Makrythanasis, R Maroofian, A Stray-Pedersen, D Musaev, MS Zaki, ... European journal of human genetics 26 (3), 330-339, 2018 | 67 | 2018 |
| Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 RN Jinks, EG Puffenberger, E Baple, B Harding, P Crino, AB Fogo, ... Brain 138 (8), 2173-2190, 2015 | 66 | 2015 |
| Mutations in INPP5K cause a form of congenital muscular dystrophy overlapping Marinesco-Sjögren syndrome and dystroglycanopathy DPS Osborn, HL Pond, N Mazaheri, J Dejardin, CJ Munn, K Mushref, ... The American Journal of Human Genetics 100 (3), 537-545, 2017 | 62 | 2017 |
| NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease PB Martin, Y Kigoshi-Tansho, RB Sher, G Ravenscroft, JE Stauffer, ... Nature communications 11 (1), 4625, 2020 | 61 | 2020 |
| Bi-allelic JAM2 variants lead to early-onset recessive primary familial brain calcification LV Schottlaender, R Abeti, Z Jaunmuktane, C Macmillan, V Chelban, ... The American Journal of Human Genetics 106 (3), 412-421, 2020 | 54 | 2020 |
| Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures EL Baple, R Maroofian, BA Chioza, M Izadi, HE Cross, S Al-Turki, ... The American Journal of Human Genetics 94 (1), 87-94, 2014 | 53 | 2014 |
| Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases E Perenthaler, A Nikoncuk, S Yousefi, WM Berdowski, M Alsagob, I Capo, ... Acta Neuropathologica 139, 415-442, 2020 | 49 | 2020 |
| Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination S Efthymiou, V Salpietro, N Malintan, M Poncelet, Y Kriouile, S Fortuna, ... Brain 142 (10), 2948-2964, 2019 | 48 | 2019 |
| Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies M Karakaya, M Storbeck, EA Strathmann, A Delle Vedove, I Hölker, ... Human mutation 39 (9), 1284-1298, 2018 | 45 | 2018 |
| SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling YC Lin, M Niceta, V Muto, B Vona, AT Pagnamenta, R Maroofian, C Beetz, ... The American Journal of Human Genetics 108 (1), 115-133, 2021 | 43 | 2021 |
| Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia M Wagner, DPS Osborn, I Gehweiler, M Nagel, U Ulmer, S Bakhtiari, ... Nature communications 10 (1), 4790, 2019 | 43 | 2019 |
Ehsan Ghayoor KarimianiConsultant Medical Geneticist, Hon. Lecturer at St George's, University of London.Verified email at sgul.ac.uk
