Jelena Pozojevic
Overview
Explore the profile of Jelena Pozojevic including associated specialties, affiliations and a list of published articles.
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26
Citations
290
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Recent Articles
1.
Pozojevic J, Kakar N, Sczakiel H, Kruse N, Handler K, Balachandran S, et al.
Clin Genet
. 2025 Jan;
PMID: 39825730
Split-hand/foot malformation syndrome (SHFM) is a congenital limb malformation that is both clinically and genetically heterogeneous. Variants in WNT10B are known to cause an autosomal recessive form of SHFM. Here,...
2.
Kakar N, Mascarenhas S, Ali A, Azmatullah , Ijlal Haider S, Badiger V, et al.
Hum Genet
. 2024 Dec;
144(1):55-65.
PMID: 39708122
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the...
3.
Pozojevic J, Sivaprasad R, Lass J, Haarich F, Trinh J, Kakar N, et al.
Sci Rep
. 2024 Jul;
14(1):16302.
PMID: 39009627
Androgen insensitivity syndrome (AIS) is a difference of sex development (DSD) characterized by different degrees of undervirilization in individuals with a 46,XY karyotype despite normal to high gonadal testosterone production....
4.
Pozojevic J, von Holt B, Westenberger A
Med Genet
. 2024 Jun;
34(2):97-102.
PMID: 38835911
X-linked dystonia-parkinsonism (XDP) is a neurodegenerative movement disorder that primarily affects adult Filipino men. It is caused by a founder retrotransposon insertion in that contains a hexanucleotide repeat, the number...
5.
Pozojevic J, Cruz J, Westenberger A
Med Genet
. 2024 Jun;
33(4):319-324.
PMID: 38835428
X-linked dystonia-parkinsonism (XDP) is an adult-onset neurodegenerative movement disorder, caused by a founder retrotransposon insertion in an intron of the gene. This insertion contains a polymorphic hexanucleotide repeat (CCCTCT), the...
6.
Figueroa K, Gross C, Buena-Atienza E, Paul S, Gandelman M, Kakar N, et al.
Nat Genet
. 2024 Apr;
56(6):1080-1089.
PMID: 38684900
Despite linkage to chromosome 16q in 1996, the mutation causing spinocerebellar ataxia type 4 (SCA4), a late-onset sensory and cerebellar ataxia, remained unknown. Here, using long-read single-strand whole-genome sequencing (LR-GS),...
7.
Balachandran S, Prada-Medina C, Mensah M, Glaser J, Kakar N, Nagel I, et al.
Am J Hum Genet
. 2024 Mar;
111(3):618.
PMID: 38458167
No abstract available.
8.
Balachandran S, Prada-Medina C, Mensah M, Kakar N, Nagel I, Pozojevic J, et al.
Am J Hum Genet
. 2024 Jan;
111(2):338-349.
PMID: 38228144
Clinical exome and genome sequencing have revolutionized the understanding of human disease genetics. Yet many genes remain functionally uncharacterized, complicating the establishment of causal disease links for genetic variants. While...
9.
Pozojevic J, Spielmann M
Mol Diagn Ther
. 2023 Aug;
27(5):553-561.
PMID: 37552451
Neurodegenerative disorders are typically characterized by late onset progressive damage to specific (sub)populations of cells of the nervous system that are essential for mobility, coordination, strength, sensation, and cognition. Addressing...
10.
Balachandran S, Pozojevic J, Sreenivasan V, Spielmann M
Mamm Genome
. 2022 Nov;
34(2):276-284.
PMID: 36401619
The structure and function of the circulatory system, including the heart, have undergone substantial changes with the vertebrate evolution. Although the basic function of the heart is to pump blood...