User profiles for F. Kortum
Dr. Fabian KortumPhD Graduate in Computer Science, Leibniz University Hannover Verified email at inf.uni-hannover.de Cited by 242 |
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
…, B Popp, C Tamer, I Stefanova, M Milh, F Kortüm… - Nature …, 2010 - nature.com
N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the
mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits …
mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits …
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
F Kortüm, S Das, M Flindt… - Journal of medical …, 2011 - jmg.bmj.com
… finding fosmid probes that hybridised proximal (F-4069H4) and distal (F-2653A9) to the
breakpoint, as well as a single fosmid clone that spanned the breakpoint (F-9677B10, figure 3A). …
breakpoint, as well as a single fosmid clone that spanned the breakpoint (F-9677B10, figure 3A). …
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome
… The blue line in f represents a fit of the data points using equation (3) (Online Methods).
Corresponding data for homomeric wild-type channels are shown for comparison as black lines, …
Corresponding data for homomeric wild-type channels are shown for comparison as black lines, …
Phenotypic spectrum associated with CASK loss-of-function mutations
U Moog, K Kutsche, F Kortüm, B Chilian… - Journal of medical …, 2011 - jmg.bmj.com
Background Heterozygous mutations in the CASK gene in Xp11.4 have been shown to be
associated with a distinct brain malformation phenotype in females, including disproportionate …
associated with a distinct brain malformation phenotype in females, including disproportionate …
[PDF][PDF] De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome
…, C Turner, L Rohena, M Hempel, F Kortüm… - The American Journal of …, 2016 - cell.com
The overall understanding of the molecular etiologies of intellectual disability (ID) and
developmental delay (DD) is increasing as next-generation sequencing technologies identify …
developmental delay (DD) is increasing as next-generation sequencing technologies identify …
Development of retinal atrophy after subretinal gene therapy with voretigene neparvovec
FF Reichel, I Seitz, F Wozar, S Dimopoulos… - British Journal of …, 2023 - bjo.bmj.com
Background/aims Voretigene neparvovec (VN) is the first and only subretinal gene therapy
approved by the Food and Drug Administration and European Medicines Agency. Real-world …
approved by the Food and Drug Administration and European Medicines Agency. Real-world …
[HTML][HTML] Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
…, E Obersztyn, A Charzewska, M Endziniene, F Kortüm… - Genome Medicine, 2018 - Springer
Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of
phenotypically overlapping recessive syndromes with intellectual disability, for which …
phenotypically overlapping recessive syndromes with intellectual disability, for which …
[PDF][PDF] Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
FL Harms, KM Girisha, AA Hardigan, F Kortüm… - The American Journal of …, 2017 - cell.com
From a GeneMatcher-enabled international collaboration, we identified ten individuals
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a …
affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a …
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
…, M Hempel, T Bierhals, F Kortüm, F Lecoquierre… - The American Journal of …, 2023 - cell.com
De novo variants are a leading cause of neurodevelopmental disorders (NDDs), but because
every monogenic NDD is different and usually extremely rare, it remains a major challenge …
every monogenic NDD is different and usually extremely rare, it remains a major challenge …
[PDF][PDF] Mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal-dominant IFAP syndrome
…, Y Liu, W Qin, M Lee, N Cesarato, F Kortüm… - The American Journal of …, 2020 - cell.com
IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia,
and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-…
and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-…