Slavica Trajkova

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities

Carolyn Le, Tugba Kalayci, Zehra Uyguner, Birsen Karaman et autres

Background BHLHE22 encodes a basic helix-loop-helix transcription factor expressed exclusively in the retina and central nervous system and functions as an important regulator of neuronal differentiation. However, BHLHE22 has not yet been associated with a Mendelian neurodevelopmental or neurological disorder. Methods 15 …

us, tr, de, fr, in, pk, gb, mk, it (code pays fourni par la source)

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly

Nathalie Vanden Eynde, Lucas Hérissant, Emilie Landais, Matthieu Egloff et autres

Nuclear factor I (NFI) transcription factors regulate neural stem and progenitor differentiation during brain development. While NFIA, NFIB, and NFIX are linked to neurodevelopmental disorders, the role of NFIC (MIM: 600729) in human disease remains unclear. This study aimed to determine whether …

lu, fr, re, it, mk, us, dk, de, ca (code pays fourni par la source)

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade

Simona Cardaropoli, Lisa Pavinato, Slavica Trajkova, Diana Carli et autres

Exome sequencing (ES) has become a primary tool for diagnosing neurodevelopmental disorders (NDDs), yet the interpretation of genetic variants in large, heterogeneous cohorts presents significant challenges that automated pipelines often fail to resolve. This study showcases the complexities and novel findings derived …

it, ch, us, ru (code pays fourni par la source)

Deleterious coding variation associated with autism is shared across ancestries

Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, Jack M. Fu et autres

The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high likelihood for autism spectrum disorder (ASD), intellectual disability and other associated developmental disorders. However, most underlying gene discovery efforts have focused on individuals …

us, br, co, mx, jp, it, de, dk, es, cn, hk, se, fi, pt (code pays fourni par la source)

A 'leaky' hypomorphic splicing variant in BLTP1 explains prolonged survival in a patient with Alkuraya-Kučinskas syndrome

Francesco Pintus, Elena Sukarova-Angelovska, Arianna Spagliardi, Chiara Giovenino et autres

it (code pays fourni par la source)

Addressing Interpretative Pitfalls in Neurodevelopmental Disorder Diagnostics: The NeuroWES Macedonia Experience

Slavica Trajkova, Simona Cardaropoli, Paola Dimartino, Lisa Pavinato et autres

Neurodevelopmental disorders (NDDs) are among the most genetically complex human conditions, yet even in the era of routine exome sequencing (ES), a large fraction of patients remains without a molecular diagnosis. Here, we analyzed 203 unrelated families from NeuroWES‐Macedonia, the first national …

it, us, ru, ca, at, mk (code pays fourni par la source)

Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis

Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, Andrea Šoltýsová et autres

se, at, sk, de, fr, ch, it, mk, nl, us, mx, lu, no (code pays fourni par la source)

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond‐Blackfan Anemia Syndrome

Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli et autres

Diamond-Blackfan Anemia Syndrome (DBAS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by impaired erythropoiesis and significant genetic heterogeneity. Diagnosis can be challenging due to clinical variability and the lack of sensitive and specific biomarkers. We investigated the evidence for …

it, us, ca, jp (code pays fourni par la source)

DNA methylation episignature as a novel diagnostic tool for diamond-blackfan anemia

Paola Quarello, Karim Karimi, Slavica Trajkova, Emanuela Garelli et autres

Abstract Background Diamond-Blackfan anemia syndrome (DBAS) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by impaired erythropoiesis and significant phenotypic and genetic heterogeneity. Diagnosis can be challenging due to clinical variability and the lack of sensitive and specific biomarkers. Over …

it, ca (code pays fourni par la source)

Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome

Verdiana Pullano, Federico Rondot, Ilaria Carelli, Slavica Trajkova et autres

Background: SATB2-associated syndrome (SAS), also known as Glass syndrome, is a neurodevelopmental disorder (NDD) characterized by intellectual disability, developmental delay, absent or limited speech, and distinctive craniofacial and dental anomalies. It is caused by autosomal dominant pathogenic variants in the SATB2 gene, …

it, at (code pays fourni par la source)

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Liselot van der Laan, Karim Karimi, Kathleen Rooney, Mariëlle Alders et autres

nl, ca, it, es, us, fr, au, de (code pays fourni par la source)

Skipping of Exon 20 in EP300 : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations

Lisa Pavinato, Silvia Carestiato, Slavica Trajkova, Lorena Sorasio et autres

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 toes, short stature, and various degrees of intellectual disability. The clinical presentation …

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