Jessica Rzasa
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Explore the profile of Jessica Rzasa including associated specialties, affiliations and a list of published articles.
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9
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8
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Recent Articles
1.
Carvalho L, Rzasa J, Kerkhof J, McConkey H, Fishman V, Koksharova G, et al.
Mol Neurobiol
. 2024 Dec;
PMID: 39674972
Neurodevelopmental disorders (NDD) comprise clinical conditions with high genetic heterogeneity and a notable enrichment of genes involved in regulating chromatin structure and function. The EHMT1/2 epigenetic complex plays a crucial...
2.
Pavinato L, Carestiato S, Trajkova S, Sorasio L, Mantovani G, de Sanctis L, et al.
Clin Genet
. 2024 Nov;
107(3):354-358.
PMID: 39603792
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder linked to haploinsufficiency of CREBBP (RSTS1) and EP300 (RSTS2) genes. Characteristic features often include distinctive facial traits, broad thumbs and...
3.
Karimi K, Weis D, Aukrust I, Hsieh T, Horackova M, Paulsen J, et al.
Eur J Hum Genet
. 2024 Oct;
32(12):1574-1582.
PMID: 39424669
Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ...
4.
Haghshenas S, Karimi K, Stevenson R, Levy M, Relator R, Kerkhof J, et al.
Am J Hum Genet
. 2024 Aug;
111(8):1643-1655.
PMID: 39089258
The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or more body structures. The causes of these disorders...
5.
Mannisto J, Hopkins J, Hewat T, Nasser F, Burrage J, Dastamani A, et al.
J Clin Endocrinol Metab
. 2024 Jul;
PMID: 39078990
Context: Hyperinsulinemic hypoglycemia (HI) can be the presenting feature of Kabuki syndrome (KS), which is caused by loss-of-function variants in KMT2D or KDM6A. As these genes play a critical role...
6.
Trajkova S, Kerkhof J, Rossi Sebastiano M, Pavinato L, Ferrero E, Giovenino C, et al.
HGG Adv
. 2024 May;
5(3):100309.
PMID: 38751117
Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated...
7.
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
HGG Adv
. 2024 Feb;
5(2):100273.
PMID: 38297832
Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism....
8.
Kerkhof J, Rastin C, Levy M, Relator R, McConkey H, Demain L, et al.
Genet Med
. 2024 Jan;
26(5):101075.
PMID: 38251460
Purpose: This study aims to assess the diagnostic utility and provide reporting recommendations for clinical DNA methylation episignature testing based on the cohort of patients tested through the EpiSign Clinical...
9.
Ansari M, Faour K, Shimamura A, Grimes G, Kao E, Denhoff E, et al.
medRxiv
. 2023 Oct;
PMID: 37808847
Heterozygous missense variants and in-frame indels in are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However,...