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 | 192 | 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 | 186 | 2019 |
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 | 73 | 2018 |
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 |
Microdroplet Technology: Principles and Emerging Applications in Biology and Chemistry P Day, Y Zhang, A Manz Springer, 2012 | 64 | 2012 |
The efficacy of glasgow coma scale (GCS) score and acute physiology and chronic health evaluation (APACHE) II for predicting hospital mortality of ICU patients with acute … A Nik, MSS Andalibi, MR Ehsaei, A Zarifian, EG Karimiani, ... Bulletin of Emergency & Trauma 6 (2), 141, 2018 | 56 | 2018 |
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 | 49 | 2019 |
Association of the expression of IL-4 and IL-13 genes, IL-4 and IgE serum levels with allergic asthma AJ TAVAKOL, FS HOSSEINI, R KHOSHNAVAZI, KE GHAYOUR, ... IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI) 6 (2), 67-72, 2007 | 48 | 2007 |
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 |
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia Nature Communications, 2019 | 43 | 2019 |
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects J Dubail, C Huber, S Chantepie, S Sonntag, B Tüysüz, E Mihci, ... Nature communications 9 (1), 3087, 2018 | 42 | 2018 |
Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24 C Hedberg-Oldfors, A Abramsson, DPS Osborn, O Danielsson, ... Human Molecular Genetics 28 (11), 1919-1929, 2019 | 40 | 2019 |
Expression of IL-17 and COX2 gene in peripheral blood leukocytes of vitiligo patients B Esmaeili, SAR Rezaee, P Layegh, AJ TAVAKKOL, P Dye, ... IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY (IJAAI) 10 (2), 81-89, 2011 | 40 | 2011 |
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking LE Sanderson, K Lanko, M Alsagob, R Almass, N Al-Ahmadi, M Najafi, ... Brain 144 (3), 769-780, 2021 | 36 | 2021 |
Hereditary thrombophilia genetic variants in recurrent pregnancy loss N Ahangari, M Doosti, N Mousavifar, M Attaran, S Shahrokhzadeh, ... Archives of Gynecology and Obstetrics 300, 777-782, 2019 | 35 | 2019 |
Single-cell analysis of K562 cells: an imatinib-resistant subpopulation is adherent and has upregulated expression of BCR-ABL mRNA and protein EG Karimiani, F Marriage, AJ Merritt, J Burthem, RJ Byers, PJR Day Experimental hematology 42 (3), 183-191. e5, 2014 | 33 | 2014 |
TMX2 is a crucial regulator of cellular redox state, and its dysfunction causes severe brain developmental abnormalities LV Vandervore, R Schot, C Milanese, DJ Smits, E Kasteleijn, AE Fry, ... The American Journal of Human Genetics 105 (6), 1126-1147, 2019 | 31 | 2019 |
Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder PE Schneeberger, F Kortüm, GC Korenke, M Alawi, R Santer, M Woidy, ... Brain 143 (8), 2437-2453, 2020 | 28 | 2020 |