Aimee D C Paulussen
Overview
Explore the profile of Aimee D C Paulussen including associated specialties, affiliations and a list of published articles.
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47
Citations
838
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Recent Articles
1.
Frank C, Laeven C, Meulenbroeks D, Coonen E, de Die-Smulders C, van Golde R, et al.
Reprod Biomed Online
. 2024 Dec;
50(1):104452.
PMID: 39647447
Research Question: What is the level of understanding, and what are the attitudes and considerations regarding preconception carrier screening (PCS) among couples seeking IVF or intracytoplasmic sperm injection (ICSI)? Design:...
2.
Verdonschot J, Paulussen A, Lakdawala N, de Die-Smulders C, Ware J, Ingles J
Nat Rev Cardiol
. 2024 Sep;
22(3):199-211.
PMID: 39289540
In the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning,...
3.
Janssen A, Koeck R, Essers R, Cao P, van Dijk W, Drusedau M, et al.
Nat Commun
. 2024 Sep;
15(1):7164.
PMID: 39223156
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or...
4.
Verdonschot J, Hellebrekers D, van Empel V, Heijligers M, de Munnik S, Coonen E, et al.
Circ Genom Precis Med
. 2024 Mar;
17(2):e004416.
PMID: 38516780
Background: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest...
5.
Roemen G, Theunissen T, Hoezen W, Steyls A, Paulussen A, Mosterd K, et al.
Biomedicines
. 2024 Feb;
12(2).
PMID: 38397932
Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants...
6.
Schobers G, Derks R, Ouden A, Swinkels H, van Reeuwijk J, Bosgoed E, et al.
Genome Med
. 2024 Feb;
16(1):32.
PMID: 38355605
Background: To diagnose the full spectrum of hereditary and congenital diseases, genetic laboratories use many different workflows, ranging from karyotyping to exome sequencing. A single generic high-throughput workflow would greatly...
7.
Vernimmen V, Paulussen A, Dreesen J, van Golde R, Esteki M, Coonen E, et al.
Eur J Hum Genet
. 2023 Jun;
31(8):918-924.
PMID: 37337089
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that affects the skin and the nervous system. The condition is completely penetrant with extreme clinical variability, resulting in unpredictable manifestations...
8.
van der Hout S, Woudstra A, Dondorp W, Sallevelt S, de Die-Smulders C, Paulussen A, et al.
Eur J Hum Genet
. 2023 Jun;
31(11):1317-1322.
PMID: 37280360
Expanded carrier screening (ECS) entails a screening offer for multiple recessive disorders at the same time, and allows testing of individuals or couples regardless of ancestry or geographic origin. Children...
9.
van Dijk W, Derks K, Drusedau M, Meekels J, Koeck R, Essers R, et al.
Hum Reprod
. 2022 Sep;
37(11):2700-2708.
PMID: 36149256
Study Question: Can the embryo tracking system (ETS) increase safety, efficacy and scalability of massively parallel sequencing-based preimplantation genetic testing (PGT)? Summary Answer: Applying ETS-PGT, the chance of sample switching...
10.
Schobers G, Koeck R, Pellaers D, Stevens S, Macville M, Paulussen A, et al.
Hum Reprod
. 2021 Sep;
36(11):2824-2839.
PMID: 34562078
Liquid biopsy is the process of sampling and analyzing body fluids, which enables non-invasive monitoring of complex biological systems in vivo. Liquid biopsy has myriad applications in health and disease...