Bitten Schonewolf-Greulich
Overview
Explore the profile of Bitten Schonewolf-Greulich including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
222
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0
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Recent Articles
1.
Aledo-Serrano A, Lewis-Smith D, Leonard H, Bayat A, Junaid M, Hagebeuk E, et al.
medRxiv
. 2025 Jan;
PMID: 39867409
Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical...
2.
Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):369.
PMID: 39375751
No abstract available.
3.
Revencu N, Eijkelenboom A, Bracquemart C, Alhopuro P, Armstrong J, Baselga E, et al.
Orphanet J Rare Dis
. 2024 May;
19(1):213.
PMID: 38778413
Background: Vascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or distinct entities. The genetic knowledge in this field is rapidly growing, and genetic...
4.
Lildballe D, Frederiksen A, Schonewolf-Greulich B, Brasch-Andersen C, Lautrup C, Karstensen H, et al.
Eur J Med Genet
. 2023 Nov;
66(12):104872.
PMID: 37967791
Genetic conditions are often familial, but not all relatives receive counseling from the same institution. It is therefore necessary to ensure consistency in variant interpretation, counseling practices, and clinical follow...
5.
Schonewolf-Greulich B, Karstensen H, Hjortshoj T, Jorgensen F, Harder K, Frevert S, et al.
Eur J Med Genet
. 2022 Aug;
65(10):104590.
PMID: 35964931
Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a...
6.
Nostvik M, Kateta S, Schonewolf-Greulich B, Afenjar A, Barth M, Boschann F, et al.
Clin Genet
. 2021 Aug;
100(5):628-633.
PMID: 34415064
Biallelic variants in PUS3 have recently been recognized as a rare cause of neurodevelopmental disorders. Pseudouridine synthase-3 encoded by PUS3 is an enzyme important for modification of various RNAs, including...
7.
Bisgaard A, Wong K, Hojfeldt A, Larsen J, Schonewolf-Greulich B, Ronde G, et al.
Am J Med Genet A
. 2021 Jul;
185(12):3683-3693.
PMID: 34296518
Longevity of individuals with neurodevelopmental diseases as Rett syndrome (RTT) has increased and many reach adulthood and old age. There is therefore a need to increase knowledge about the course...
8.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, et al.
Clin Genet
. 2021 Jul;
100(4):412-429.
PMID: 34216016
ZMYND11 is the critical gene in chromosome 10p15.3 microdeletion syndrome, a syndromic cause of intellectual disability. The phenotype of ZMYND11 variants has recently been extended to autism and seizures. We...
9.
Rodriguez-Palmero A, Boerrigter M, Gomez-Andres D, Aldinger K, Marcos-Alcalde I, Popp B, et al.
Genet Med
. 2021 Feb;
23(5):888-899.
PMID: 33597769
Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with...
10.
Kaur S, Van Bergen N, Verhey K, Nowell C, Budaitis B, Yue Y, et al.
Hum Mutat
. 2020 Jul;
41(10):1761-1774.
PMID: 32652677
Defects in the motor domain of kinesin family member 1A (KIF1A), a neuron-specific ATP-dependent anterograde axonal transporter of synaptic cargo, are well-recognized to cause a spectrum of neurological conditions, commonly...