Carla Rosenberg
Overview
Explore the profile of Carla Rosenberg including associated specialties, affiliations and a list of published articles.
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Articles
130
Citations
2617
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Recent Articles
1.
Fridman C, Batista J, Bianchini P, Batistutti V, de Sa Osorio P, de Mello Andrade L, et al.
Int J Legal Med
. 2025 Feb;
PMID: 40021560
Uniparental disomy (UPD) is the abnormal situation in which both members of a chromosome pair exclusively comprise material of one of the parents. The incidence of UPD is estimated in...
2.
Vieira D, Lima I, Rosenberg C, Fonseca C, Gomes L, Guida L, et al.
Genes (Basel)
. 2025 Jan;
15(12.
PMID: 39766813
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births. While most carriers are phenotypically normal, they are at risk of generating unbalanced gametes during meiosis, leading...
3.
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...
4.
Mazzonetto P, Villela D, Krepischi A, Pierry P, Bonaldi A, Almeida L, et al.
Am J Med Genet A
. 2024 Jun;
194(11):e63802.
PMID: 38924610
Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing-based approach...
5.
da Costa S, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino M, Zielinsky P, et al.
Chromosome Res
. 2024 Mar;
32(2):6.
PMID: 38504027
Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to...
6.
Carvalho L, Jorge A, Bertola D, Krepischi A, Rosenberg C
Curr Obes Rep
. 2024 Jan;
13(2):313-337.
PMID: 38277088
Syndromic obesity refers to obesity occurring with additional clinical findings, such as intellectual disability/developmental delay, dysmorphic features, and congenital malformations. PURPOSE OF REVIEW: To present a narrative review regarding the...
7.
Migliavacca M, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, et al.
Am J Med Genet A
. 2024 Jan;
194(6):e63544.
PMID: 38258498
In this pilot study, we aimed to evaluate the feasibility of whole genome sequencing (WGS) as a first-tier diagnostic test for infants hospitalized in neonatal intensive care units in the...
8.
Tolezano G, Bastos G, da Costa S, Scliar M, de Souza C, Van der Linden Jr H, et al.
Mol Neurobiol
. 2024 Jan;
61(8):5230-5247.
PMID: 38180615
Microcephaly is characterized by an occipitofrontal circumference at least two standard deviations below the mean for age and sex. Neurodevelopmental disorders (NDD) are commonly associated with microcephaly, due to perturbations...
9.
Costa S, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino M, Zielinsky P, et al.
Res Sq
. 2024 Jan;
PMID: 38168413
Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis underlying rare diseases. The aim of this study was to...
10.
Mazzonetto P, Villela D, da Costa S, Krepischi A, Milanezi F, Migliavacca M, et al.
Ann Hum Genet
. 2023 Oct;
88(2):113-125.
PMID: 37807935
Introduction: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV...