Theresia Herget
Overview
Explore the profile of Theresia Herget including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
111
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0
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Recent Articles
1.
Loberti L, Adamo L, Antolini E, Casamassima G, Destree A, Brunetti-Pierri N, et al.
Genet Med
. 2025 Feb;
:101375.
PMID: 39953909
Purpose: AUTS2-related syndrome is a condition characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters AUTS2 encodes two distinct long and short isoforms encoding a putative...
2.
Elkhateeb N, Crookes R, Spiller M, Pavinato L, Palermo F, Brusco A, et al.
Genet Med
. 2024 Dec;
27(3):101348.
PMID: 39737487
Purpose: The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental...
3.
Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh T, et al.
Nat Genet
. 2024 Jul;
56(8):1644-1653.
PMID: 39039281
Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a...
4.
Kalm T, Schob C, Voller H, Gardeitchik T, Gilissen C, Pfundt R, et al.
Am J Hum Genet
. 2024 May;
111(6):1206-1221.
PMID: 38772379
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense...
5.
Papingi D, Bierhals T, Volk A, Kutsche M, Paul K, Herget T
Am J Med Genet A
. 2023 Dec;
194(5):e63515.
PMID: 38135897
Biallelic pathogenic variants in the TTC26 gene are known to cause BRENS (biliary, renal, neurological, skeletal) syndrome, an ultra-rare autosomal recessive condition with only few patients published to date. BRENS...
6.
Rinaldi B, Bayat A, Zachariassen L, Sun J, Ge Y, Zhao D, et al.
Brain
. 2023 Dec;
147(5):1837-1855.
PMID: 38038360
AMPA (α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid) receptors (AMPARs) mediate fast excitatory neurotransmission in the brain. AMPARs form by homo- or heteromeric assembly of subunits encoded by the GRIA1-GRIA4 genes, of which only...
7.
Holling T, Brylka L, Scholz T, Bierhals T, Herget T, Meinecke P, et al.
J Bone Miner Res
. 2023 Aug;
38(9):1334-1349.
PMID: 37554015
Isolated short stature, defined as short stature without any other abnormalities, is a common heterogeneous condition in children. Exome sequencing identified the homozygous nonsense variant c.1832G>A/p.(Trp611*) in TMCO3 in two...
8.
Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff J, et al.
Genet Med
. 2023 May;
25(8):100885.
PMID: 37165955
Purpose: Missense variants clustering in the BTB domain region of RHOBTB2 cause a developmental and epileptic encephalopathy with early-onset seizures and severe intellectual disability. Methods: By international collaboration, we assembled...
9.
Mund M, Uhlenbusch N, Rillig F, Weiler-Normann C, Herget T, Kubisch C, et al.
Orphanet J Rare Dis
. 2023 Apr;
18(1):82.
PMID: 37060005
Background: Centers for rare diseases serve as contact points for patients with complex, often undiagnosed complaints and persistent somatic symptoms of heterogeneous origin. Little is known about psychological distress of...
10.
Aerden M, Denomme-Pichon A, Bonneau D, Bruel A, Delanne J, Gerard B, et al.
Eur J Hum Genet
. 2023 Feb;
31(4):461-468.
PMID: 36747006
Haploinsufficiency of TRIP12 causes a neurodevelopmental disorder characterized by intellectual disability associated with epilepsy, autism spectrum disorder and dysmorphic features, also named Clark-Baraitser syndrome. Only a limited number of cases...