Birte Zurek
Overview
Explore the profile of Birte Zurek including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
244
Followers
0
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Recent Articles
1.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer A, et al.
Nat Med
. 2025 Jan;
31(2):478-489.
PMID: 39825153
Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource,...
2.
Johansson L, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, et al.
Gigascience
. 2024 Sep;
13.
PMID: 39302238
The Solve-RD project brings together clinicians, scientists, and patient representatives from 51 institutes spanning 15 countries to collaborate on genetically diagnosing ("solving") rare diseases (RDs). The project aims to significantly...
3.
Ellwanger K, Brill J, de Boer E, Efthymiou S, Elgersma Y, Icmat M, et al.
Lab Anim (NY)
. 2024 Jun;
53(7):161-165.
PMID: 38914824
No abstract available.
4.
Denomme-Pichon A, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, et al.
Genet Med
. 2023 Jan;
25(4):100018.
PMID: 36681873
Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based...
5.
Zurek B, Ellwanger K, Vissers L, Schule R, Synofzik M, Topf A, et al.
Eur J Hum Genet
. 2021 Aug;
29(9):1459-1461.
PMID: 34385672
No abstract available.
6.
Graessner H, Zurek B, Hoischen A, Beltran S
Eur J Hum Genet
. 2021 Jun;
29(9):1319-1320.
PMID: 34140650
No abstract available.
7.
Zurek B, Ellwanger K, Vissers L, Schule R, Synofzik M, Topf A, et al.
Eur J Hum Genet
. 2021 Jun;
29(9):1325-1331.
PMID: 34075208
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship...
8.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, et al.
Orphanet J Rare Dis
. 2021 Mar;
16(1):145.
PMID: 33752678
No abstract available.
9.
Atalaia A, Thompson R, Corvo A, Carmody L, Piscia D, Matalonga L, et al.
Orphanet J Rare Dis
. 2020 Aug;
15(1):206.
PMID: 32787960
Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis,...
10.
Bielig H, Lautz K, Braun P, Menning M, Machuy N, Brugmann C, et al.
PLoS Pathog
. 2014 Sep;
10(9):e1004351.
PMID: 25187968
NOD1 is an intracellular pathogen recognition receptor that contributes to anti-bacterial innate immune responses, adaptive immunity and tissue homeostasis. NOD1-induced signaling relies on actin remodeling, however, the details of the...