Laura Polsler
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Explore the profile of Laura Polsler including associated specialties, affiliations and a list of published articles.
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8
Citations
126
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Recent Articles
1.
Van Der Kelen A, Keymolen K, Cools W, De Vos A, Polsler L, De Vos M, et al.
J Assist Reprod Genet
. 2024 May;
41(7):1907-1915.
PMID: 38753088
Purpose: Our objective is to predict the cumulative live birth rate (CLBR) and identify the specific subset within the population undergoing preimplantation genetic testing for monogenic disorders (PGT-M) and chromosomal...
2.
Palmer E, Pusch M, Picollo A, Forwood C, Nguyen M, Suckow V, et al.
Mol Psychiatry
. 2022 Nov;
28(2):668-697.
PMID: 36385166
Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype...
3.
Reuter M, Zech M, Hempel M, Altmuller J, Heung T, Polsler L, et al.
Eur J Hum Genet
. 2022 Mar;
30(5):611-618.
PMID: 35304602
PAN2 encodes a subunit of a deadenylation complex with important functions in mRNA stability and post-transcriptional regulation of gene expression. A homozygous frameshift deletion in PAN2 was reported in a...
4.
Zech M, Jech R, Boesch S, Skorvanek M, Weber S, Wagner M, et al.
Lancet Neurol
. 2020 Oct;
19(11):908-918.
PMID: 33098801
Background: Dystonia is a clinically and genetically heterogeneous condition that occurs in isolation (isolated dystonia), in combination with other movement disorders (combined dystonia), or in the context of multisymptomatic phenotypes...
5.
Polsler L, Schatz U, Simma B, Zschocke J, Rudnik-Schoneborn S
Am J Med Genet A
. 2020 Jan;
182(4):730-734.
PMID: 31913554
The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis, and vertebral anomalies was first described in 1993 by...
6.
Hsieh T, Mensah M, Pantel J, Aguilar D, Bar O, Bayat A, et al.
Genet Med
. 2019 Jun;
21(12):2807-2814.
PMID: 31164752
Purpose: Phenotype information is crucial for the interpretation of genomic variants. So far it has only been accessible for bioinformatics workflows after encoding into clinical terms by expert dysmorphologists. Methods:...
7.
Maass P, Weise A, Rittscher K, Lichtenwald J, Barutcu A, Liehr T, et al.
EMBO J
. 2018 Jun;
37(15).
PMID: 29921581
Chromosomes occupy distinct interphase territories in the three-dimensional nucleus. However, how these chromosome territories are arranged relative to one another is poorly understood. Here, we investigated the chromosomal interactions between...
8.
Polsler L, Fiegl H, Wimmer K, Oberaigner W, Amberger A, Traunfellner P, et al.
Eur J Hum Genet
. 2015 May;
24(2):258-62.
PMID: 26014432
Screening for founder mutations in BRCA1 and BRCA2 has been discussed as a cost-effective testing strategy in certain populations. In this study, comprehensive BRCA1 and BRCA2 testing was performed in...