Heiko Brennenstuhl
Overview
Explore the profile of Heiko Brennenstuhl including associated specialties, affiliations and a list of published articles.
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31
Citations
242
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Recent Articles
1.
Doll E, Lerch S, Schmalenberger K, Alex K, Kolker S, Brennenstuhl H, et al.
Genet Med
. 2025 Feb;
:101390.
PMID: 39987491
Purpose: This systematic review aims to identify factors that influence parents' decisions regarding pediatric diagnostic and predictive genetic testing (DT/PT). Factors are integrated into a conceptual model of decision-making. Implications...
2.
Valentin I, Caro Martin M, Caro P, Fischer C, Brennenstuhl H, Schaaf C
Clin Genet
. 2025 Feb;
PMID: 39972940
(Likely) pathogenic variants in NR2F1 are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS, OMIM #615722), a rare neurodevelopmental disorder. Patients present with a variety of symptoms, including intellectual disability, developmental...
3.
Betzler I, Hempel M, Mutze U, Kolker S, Winkler E, Dikow N, et al.
J Inherit Metab Dis
. 2025 Jan;
48(1):e12837.
PMID: 39810483
No abstract available.
4.
Schnabel-Besson E, Mutze U, Dikow N, Horster F, Morath M, Alex K, et al.
Int J Neonatal Screen
. 2024 Sep;
10(3).
PMID: 39311364
Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still...
5.
Betzler I, Hempel M, Mutze U, Kolker S, Winkler E, Dikow N, et al.
J Inherit Metab Dis
. 2024 May;
47(5):945-970.
PMID: 38757337
Genomic newborn screening (gNBS) is on the horizon given the decreasing costs of sequencing and the advanced understanding of the impact of genetic variants on health and diseases. Key to...
6.
Julia-Palacios N, Hubschmann O, Olivella M, Pons R, Horvath G, Lucke T, et al.
J Inherit Metab Dis
. 2024 Mar;
47(3):447-462.
PMID: 38499966
The objective of the study is to evaluate the evolving phenotype and genetic spectrum of patients with succinic semialdehyde dehydrogenase deficiency (SSADHD) in long-term follow-up. Longitudinal clinical and biochemical data...
7.
Frank S, Gabassi E, Kaseberg S, Bertin M, Zografidou L, Pfeiffer D, et al.
Life Sci Alliance
. 2024 Jan;
7(4).
PMID: 38238086
The X-linked form of Opitz BBB/G syndrome (OS) is a monogenic disorder in which symptoms are established early during embryonic development. OS is caused by pathogenic variants in the X-linked...
8.
Wimmer M, Brennenstuhl H, Hirsch S, Dotsch L, Unser S, Caro P, et al.
Clin Genet
. 2024 Jan;
105(5):499-509.
PMID: 38221796
Hao-Fountain syndrome (HAFOUS, OMIM: #616863) is a neurodevelopmental disorder caused by pathogenic variants in the gene USP7 coding for USP7, a protein involved in several crucial cellular homeostatic mechanisms and...
9.
Maass J, Brennenstuhl H, Schaaf C
Ann Transl Med
. 2024 Jan;
11(12):405.
PMID: 38213817
No abstract available.
10.
Brennenstuhl H, Schaaf C
Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz
. 2023 Oct;
66(11):1232-1242.
PMID: 37831095
The application of high-throughput sequencing methods for population-based genomic newborn screening offers numerous opportunities for improving population health. The use of genome-based sequencing technology holds potential to enable the diagnosis...