Stephanie Spranger
Overview
Explore the profile of Stephanie Spranger including associated specialties, affiliations and a list of published articles.
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Articles
28
Citations
878
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Recent Articles
1.
Buchert R, Burkhalter M, Huridou C, Sofan L, Roser T, Cremer K, et al.
Am J Hum Genet
. 2025 Jan;
112(2):374-393.
PMID: 39824192
Nutrient-dependent mTORC1 regulation upon amino acid deprivation is mediated by the KICSTOR complex, comprising SZT2, KPTN, ITFG2, and KICS2, recruiting GATOR1 to lysosomes. Previously, pathogenic SZT2 and KPTN variants have...
2.
Laugwitz L, Buchert R, Olguin P, Estiar M, Atanasova M, Marques Jr W, et al.
Am J Hum Genet
. 2025 Jan;
112(1):168-180.
PMID: 39753114
Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic...
3.
Ghasemi M, Tehrani Fateh S, Ben-Mahmoud A, Gupta V, Stuhn L, Lesca G, et al.
Am J Med Genet A
. 2024 Dec;
:e63963.
PMID: 39707601
The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise...
4.
Schmid C, Gregor A, Ruiz A, Manso Bazus C, Herman I, Ammouri F, et al.
Eur J Hum Genet
. 2024 Dec;
PMID: 39668183
While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled...
5.
Lischka A, Eggermann K, Record C, Dohrn M, Lassuthova P, Kraft F, et al.
Brain
. 2023 Sep;
146(12):4880-4890.
PMID: 37769650
Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the...
6.
Rots D, Jakub T, Keung C, Jackson A, Banka S, Pfundt R, et al.
Am J Hum Genet
. 2023 May;
110(6):963-978.
PMID: 37196654
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 to understand the...
7.
Grosse M, Kuechler A, Dabir T, Spranger S, Beck-Wodl S, Bertrand M, et al.
Int J Mol Sci
. 2023 Feb;
24(4).
PMID: 36834931
SOX4 is a transcription factor with pleiotropic functions required for different developmental processes, such as corticogenesis. As with all SOX proteins, it contains a conserved high mobility group (HMG) and...
8.
Cousin M, Veale E, Dsouza N, Tripathi S, Holden R, Arelin M, et al.
Genome Med
. 2022 Jun;
14(1):62.
PMID: 35698242
Background: Genomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only one causative variant has been described for KCNK9 imprinting syndrome (KIS)....
9.
van der Knoop M, Maroofian R, Fukata Y, van Ierland Y, Karimiani E, Lehesjoki A, et al.
Brain
. 2022 Apr;
145(7):2301-2312.
PMID: 35373813
Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with recessive developmental...
10.
van der Spek J, den Hoed J, Blok L, Dingemans A, Schijven D, Nellaker C, et al.
Genet Med
. 2022 Mar;
24(6):1283-1296.
PMID: 35346573
Purpose: Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental disorders as causal when the transmitting parent is clinically unaffected, leaving...