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Ehsan Ghayoor Karimiani
Ehsan Ghayoor Karimiani
Consultant Medical Geneticist, Hon. Lecturer at St George's, University of London.
Verified email at sgul.ac.uk - Homepage
Title
Cited by
Cited by
Year
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
1912019
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
1842019
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
912019
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
722018
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
672018
Microdroplet Technology: Principles and Emerging Applications in Biology and Chemistry
P Day, Y Zhang, A Manz
Springer, 2012
632012
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
542018
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
492020
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
482019
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
482007
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
452018
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Nature Communications, 2019
432019
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
422018
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
402019
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
402011
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
352021
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
342019
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
322014
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
282020
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
282019
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