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Ehsan Ghayoor Karimiani
Researcher at St George's, University of London
Publications - 87
Citations - 1013
Ehsan Ghayoor Karimiani is an academic researcher from St George's, University of London. The author has contributed to research in topics: Medicine & Biology. The author has an hindex of 15, co-authored 64 publications receiving 612 citations. Previous affiliations of Ehsan Ghayoor Karimiani include St. George's University & University of Manchester.
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Journal ArticleDOI
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.
Nynke Oosterhof,Irene J. Chang,Ehsan Ghayoor Karimiani,Laura E. Kuil,Dana M. Jensen,Ray A. M. Daza,Erica Young,Lee Astle,Herma C. van der Linde,Giridhar M. Shivaram,Jeroen Demmers,Caitlin S. Latimer,C. Dirk Keene,Emily Loter,Reza Maroofian,Tjakko J. van Ham,Robert F. Hevner,James T. Bennett +17 more
TL;DR: The results suggest that CSF1R is required for human brain development and establish the csf1rDM fish as a model for microgliopathies and exemplify an under-recognized form of phenotypic expansion.
Journal ArticleDOI
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Stefano Volpi,Stefano Volpi,Maria Pia Cicalese,Paul Tuijnenburg,Anton T.J. Tool,Eloy Cuadrado,Marwan Abu-Halaweh,Hamid Ahanchian,Raed Alzyoud,Zeynep Coban Akdemir,Federica Barzaghi,Alexander Blank,Bertrand Boisson,Cristina Bottino,Immacolata Brigida,Roberta Caorsi,Jean-Laurent Casanova,Sabrina Chiesa,Ivan K. Chinn,Gregor Dückers,Anselm Enders,Hans Christian Erichsen,Lisa R. Forbes,Tomasz Gambin,Marco Gattorno,Ehsan Ghayoor Karimiani,Silvia Giliani,Michael Gold,Eva-Maria Jacobsen,Machiel H. Jansen,Jovanka R King,Ronald M. Laxer,James R. Lupski,Emily M. Mace,Stefania Marcenaro,Reza Maroofian,Alexander B. Meijer,Tim Niehues,Luigi D. Notarangelo,Jordan S. Orange,Ulrich Pannicke,Chris Pearson,Paolo Picco,Patrick Quinn,Ansgar Schulz,Filiz O. Seeborg,Asbjørg Stray-Pedersen,Hasan Tawamie,Ester M. M. van Leeuwen,Alessandro Aiuti,Rae S. M. Yeung,Klaus Schwarz,Taco W. Kuijpers +52 more
TL;DR: The natural history, clinical manifestations, genetics, and immunohematological findings in 14 patients from 11 families with ARPC1B deficiency delineating the spectrum of the disease that appears progressive and challenging to manage clinically are reported.
Journal ArticleDOI
Biallelic variants in KIF14 cause intellectual disability with microcephaly.
Periklis Makrythanasis,Reza Maroofian,Asbjørg Stray-Pedersen,Damir Musaev,Maha S. Zaki,Iman G Mahmoud,Laila Selim,Amera Elbadawy,Shalini N. Jhangiani,Zeynep Coban Akdemir,Tomasz Gambin,Tomasz Gambin,Hanne Sørmo Sorte,Arvid Heiberg,Jennifer McEvoy-Venneri,Kiely N. James,Valentina Stanley,Denice Belandres,Michel Guipponi,Federico Santoni,Najmeh Ahangari,Fatemeh Tara,Mohammad Doosti,Justyna Iwaszkiewicz,Vincent Zoete,Paul Hoff Backe,Paul Hoff Backe,Hanan Hamamy,Joseph G. Gleeson,James R. Lupski,Ehsan Ghayoor Karimiani,Ehsan Ghayoor Karimiani,Stylianos E. Antonarakis +32 more
TL;DR: The results demonstrate the involvement of KIF14 in development and reveal a wide phenotypic variability ranging from fetal lethality to moderate developmental delay and microcephaly.
Journal ArticleDOI
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Matias Wagner,Daniel P. S. Osborn,Ina Gehweiler,Ina Gehweiler,Maike Nagel,Maike Nagel,Ulrike Ulmer,Ulrike Ulmer,Somayeh Bakhtiari,Somayeh Bakhtiari,Rim Amouri,Reza Boostani,Fayçal Hentati,Maryam M. Hockley,Benedikt Hölbling,Benedikt Hölbling,Thomas Schwarzmayr,Ehsan Ghayoor Karimiani,Christoph Kernstock,Reza Maroofian,Wolfgang Müller-Felber,Ege Ozkan,Sergio Padilla-Lopez,Sergio Padilla-Lopez,Selina Reich,Selina Reich,Jennifer Reichbauer,Jennifer Reichbauer,Hossein Darvish,Neda Shahmohammadibeni,Abbas Tafakhori,Katharina Vill,Stephan Züchner,Michael C. Kruer,Michael C. Kruer,Juliane Winkelmann,Yalda Jamshidi,Rebecca Schüle,Rebecca Schüle +38 more
TL;DR: These findings highlight inositol 1,4,5-trisphosphate signaling as a candidate key pathway for hereditary spastic paraplegias and cerebellar ataxias and thus prioritize this pathway for therapeutic interventions.
Journal ArticleDOI
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Mert Karakaya,Markus Storbeck,Eike A. Strathmann,Andrea Delle Vedove,Irmgard Hölker,Janine Altmueller,Leyla Naghiyeva,Lea Schmitz-Steinkrüger,Katharina Vezyroglou,Susanne Motameny,Salem Alawbathani,Holger Thiele,Ayşe İpek Polat,Derya Okur,Reza Boostani,Ehsan Ghayoor Karimiani,Gilbert Wunderlich,Didem Ardicli,Haluk Topaloglu,Janbernd Kirschner,Bertold Schrank,Reza Maroofian,Olafur Th Magnusson,Uluç Yiş,Peter Nürnberg,Raoul Heller,Brunhilde Wirth +26 more
TL;DR: The clinical utility of targeted sequencing in non‐5q‐SMA is tested by developing two different gene panels covering a broad disease spectrum for diseases that are highly heterogeneous and clinically difficult to differentiate.