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Whole exome sequencing in recurrent early pregnancy loss

Molecular human reproduction, 2016-05, Vol.22 (5), p.364-372

2016

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Understanding the impact of 1q21.1 copy number variant

Orphanet journal of rare diseases, 2011-08, Vol.6 (1), p.54-54, Article 54

2011

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

Genes chromosomes & cancer, 2003-08, Vol.37 (4), p.427-432

2003

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Genomic imbalances in the placenta are associated with poor fetal growth

Molecular medicine (Cambridge, Mass.), 2021-01, Vol.27 (1), p.3-3, Article 3

2021

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Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

Genes, 2021-07, Vol.12 (7), p.1053

2021

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Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

Clinical genetics, 2019-09, Vol.96 (3), p.199-206

2019

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P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Genetics in Medicine Open, 2023, Vol.1 (1), p.100500, Article 100500

2023

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

American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1782-1791

2017

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

Human mutation, 2016-08, Vol.37 (8), p.719-726

2016

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The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Frontiers in genetics, 2019-02, Vol.10, p.58-58

2019

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Expression and Genetic Analysis of XIAP-Associated Factor 1 (XAF1) in Cancer Cell Lines

Genomics (San Diego, Calif.), 2000-11, Vol.70 (1), p.113-122

2000

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Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes

Human mutation, 2014-01, Vol.35 (1), p.58-62

2014

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Next generation sequencing in recurrent pregnancy loss-approaches and outcomes

European journal of medical genetics, 2020-02, Vol.63 (2), p.103644-103644, Article 103644

Rajcan-Separovic, Evica

2020

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

Molecular cytogenetics, 2008-11, Vol.1 (1), p.23-23, Article 23

2008

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

JCI insight, 2016-03, Vol.1 (3)

2016

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Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-5

2017

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

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.254-260

2004

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Chromosome microarrays in human reproduction

Human reproduction update, 2012-09, Vol.18 (5), p.555-567

Rajcan-Separovic, Evica

2012

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Exceptional Complex Chromosomal Rearrangements in Three Generations

Case reports in genetics, 2015-01, Vol.2015 (2015), p.1-5

2015

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Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

2020

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

BMC genomics, 2007-06, Vol.8 (1), p.167-167, Article 167

2007

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A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

Case reports in genetics, 2014-01, Vol.2014 (2014), p.1-5

2014

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

American journal of human genetics, 2015-05, Vol.96 (5), p.784-796

2015

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Genomic Organization of the X-linked Inhibitor of Apoptosis and Identification of a Novel Testis-Specific Transcript

Genomics (San Diego, Calif.), 2001-10, Vol.77 (3), p.181-188

2001

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

American journal of medical genetics, 2003-12, Vol.123A (3), p.285-289

2003

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Whole exome sequencing in recurrent early pregnancy loss

Understanding the impact of 1q21.1 copy number variant

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

Genomic imbalances in the placenta are associated with poor fetal growth

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort

P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

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

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

The Role of AKT3 Copy Number Changes in Brain Abnormalities and Neurodevelopmental Disorders: Four New Cases and Literature Review

Expression and Genetic Analysis of XIAP-Associated Factor 1 (XAF1) in Cancer Cell Lines

Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes

Next generation sequencing in recurrent pregnancy loss-approaches and outcomes

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

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

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

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

Chromosome microarrays in human reproduction

Exceptional Complex Chromosomal Rearrangements in Three Generations

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

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

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

Genomic Organization of the X-linked Inhibitor of Apoptosis and Identification of a Novel Testis-Specific Transcript

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

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