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List of works by Evica Rajcan-Separovic

15q duplication associated with autism in a multiplex family with a familial cryptic translocation t(14;15)(q11.2;q13.3) detected using array-CGH.

scientific article published in February 2006

2p15-p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

scientific article published on 13 July 2011

A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detected using whole genomic array CGH.

scientific article published on April 2005

Assignment of human inhibitor of apoptosis protein (IAP) genes xiap, hiap-1, and hiap-2 to chromosomes Xq25 and 11q22-q23 by fluorescence in situ hybridization

scientific article

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders

scientific article published in July 2012

Autism-associated familial microdeletion of Xp11.22

scientific article

Chromosome microarrays in human reproduction ⬇️

scientific article published on 02 June 2012

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

scientific article

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

scientific article published on 09 April 2012

Comparative genomic hybridization of Wilms' tumor.

scientific article published on January 2013

Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).

scientific article

Defective hematopoiesis and hepatic steatosis in mice with combined deficiencies of the genes encoding Fancc and Cu/Zn superoxide dismutase

scientific journal article

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

scientific article

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH.

scientific article published in September 2004

Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication

scientific article published on 10 November 2016

Expression and genetic analysis of XIAP-associated factor 1 (XAF1) in cancer cell lines

scientific article

FISH detection of chromosome polymorphism and deletions in the spinal muscular atrophy (SMA) region of 5q13

scientific article

Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions

scientific article published on 01 December 2003

Fluorescence in situ hybridization analysis of complex translocations in two newly diagnosed Philadelphia chromosome-positive chronic myelogenous leukemia patients

scientific article published on October 1999

Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region

article

Fluorescence in situ hybridization of bovine Alu-like sequences to bovine and ovine chromosomes

scientific article published on 01 October 1993

Functional consequences of copy number variants in miscarriage.

scientific article

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

scientific article

Genomic changes detected by array CGH in human embryos with developmental defects

scientific article published on 23 September 2009

Genomic characteristics of miscarriage copy number variants

scientific article published on 12 June 2015

Genomic organization of the X-linked inhibitor of apoptosis and identification of a novel testis-specific transcript

scientific article

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

scientific article published on 29 May 2013

High-resolution Human Genome Scanning Using Whole-genome BAC Arrays

scientific article published on 01 January 2003

Identification of copy number variants in miscarriages from couples with idiopathic recurrent pregnancy loss

Identification of the origin of double minutes in normal human cells by laser-based chromosome microdissection approach

scientific article published on July 1995

Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis.

scientific article

Interactive Exploration, Analysis, and Visualization of Complex Phenome-Genome Datasets with ASPIREdb

scientific article published on 9 May 2016

Interphase fluorescence in situ hybridization and DNA flow cytometry analysis of medulloblastomas with a normal karyotype.

scientific article published in February 2002

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis

scientific article

Loss of 1p and 7p in radiation-induced meningiomas identified by comparative genomic hybridization

scientific article

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation

article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

scientific article published in March 2009

Molecular cytogenetics in reproductive pathology

scientific article published on January 2002

Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma

scientific article

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

scientific article

Outcome of array CGH analysis for 255 subjects with intellectual disability and search for candidate genes using bioinformatics

scientific article published on 29 May 2010

Phenomic determinants of genomic variation in autism spectrum disorders

scientific article published on 21 July 2009

Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

article

Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2

scientific article

Putatively benign copy number variants in subjects with idiopathic autism spectrum disorder and/or intellectual disability

scientific article published in January 2008

Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13)

scientific article published on 01 April 2001

Screening for submicroscopic chromosomal rearrangements in Wilms tumor using whole-genome microarrays

scientific article published in April 2008

Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

scientific article

The role of MAGT1 in genetic syndromes

scientific article

Understanding the impact of 1q21.1 copy number variant

scientific article

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice

scientific journal article

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes

scientific article published in January 2014

Whole exome sequencing in recurrent early pregnancy loss

scientific article published on 28 January 2016

Whole exome sequencing of families with 1q21.1 microdeletion or microduplication

scientific article published on 05 May 2017

miRNA and miRNA target genes in copy number variations occurring in individuals with intellectual disability

scientific article

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