Aleksandar Rajkovic
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View article: Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening
Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening Open
In the last 10 years the field of prenatal diagnosis has been significantly reshaped followed by the implementation of noninvasive prenatal cell-free DNA (cfDNA) testing methodologies in clinical practice. Based on a superior performance a…
View article: O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome
O63: Leveraging global and local genomic data to guide equitable carrier screening: From Genome Aggregation Database (gnomAD) to Qatar Genome Open
View article: MGA loss-of-function variants cause premature ovarian insufficiency
MGA loss-of-function variants cause premature ovarian insufficiency Open
Although premature ovarian insufficiency (POI), a common cause of female infertility and subfertility, has a well-established hereditary component, the genetic factors currently implicated in POI account for only a limited proportion of ca…
View article: Table of Contents, Volume 194A, Number 3, March 2024
Table of Contents, Volume 194A, Number 3, March 2024 Open
View article: Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants
Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants Open
Purpose Miscarriage, often resulting from a variety of genetic factors, is a common pregnancy outcome. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently…
View article: Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists
Copy-number variants in the ACMG secondary finding genes: A reporting framework for clinical cytogeneticists Open
This study provides a framework for consistent reporting of CNVs, detected by chromosomal microarray analysis, exome, or genome sequencing, in any of the ACMG SFv3.2 genes. To our knowledge, this is the largest cohort of patients studied f…
View article: Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications
Progress Update for the Multisite Optical Genome Mapping Evaluation and Validation Study: Prenatal Applications Open
Optical genome mapping (OGM) is an emerging technology with great potential for prenatal diagnosis. OGM can identify and resolve all types of balanced and unbalanced cytogenomic abnormalities in a single test, which are typically assessed …
View article: Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency
Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency Open
View article: Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants
Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants Open
Purpose Miscarriage, due to genetically heterogeneous etiology, is a common outcome of pregnancy. Preconception genetic carrier screening (PGCS) identifies at-risk partners for newborn genetic disorders; however, PGCS panels currently lack…
View article: Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium
Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium Open
Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium
View article: Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium
Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium Open
Supplementary Tables 1-3 from Pancreatic Cancer Risk and ABO Blood Group Alleles: Results from the Pancreatic Cancer Cohort Consortium
View article: <i>Sohlh1</i>loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice
<i>Sohlh1</i>loss of function male and female infertility model impacts overall health beyond gonadal dysfunction in mice Open
Reproductive longevity is associated with health outcomes. Early menopause, loss of ovarian function, and male infertility are linked to shorter lifespan and increased adverse health outcomes. Here we examined the extragonadal effects of w…
View article: P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition
P535: Validation and real-life experience of a comprehensive, targeted next-generation sequencing panel for hereditary cancer predisposition Open
View article: Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing
Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing Open
Cytogenetic studies represent a critical component of prenatal genetic testing. Prenatal diagnostic testing of amniotic fluid, chorionic villus sampling, or more rarely, fetal cord blood, is recommended following a positive or unreportable…
View article: Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas
Single-cell sequencing reveals novel cellular heterogeneity in uterine leiomyomas Open
STUDY QUESTION What are the cellular composition and single-cell transcriptomic differences between myometrium and leiomyomas as defined by single-cell RNA sequencing? SUMMARY ANSWER We discovered cellular heterogeneity in smooth muscle ce…
View article: eP468: Carrier frequency of genes associated with autosomal recessive conditions in diverse populations: Lessons learned from gnomAD and ClinVar
eP468: Carrier frequency of genes associated with autosomal recessive conditions in diverse populations: Lessons learned from gnomAD and ClinVar Open
View article: Pathogenic Variants in <i>ZSWIM7</i> Cause Primary Ovarian Insufficiency
Pathogenic Variants in <i>ZSWIM7</i> Cause Primary Ovarian Insufficiency Open
Context Primary ovarian insufficiency (POI) is a genetically heterogeneous condition associated with infertility and an increased risk of comorbidities. An increased number of genes implicated in DNA damage response pathways has been assoc…
View article: Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency
Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency Open
STUDY QUESTION Can a targeted whole exome sequencing (WES) on a cohort of women showing a primary ovarian insufficiency (POI) phenotype at a young age, combined with a study of copy number variations, identify variants in candidate genes c…
View article: Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Deletion of conserved non‐coding sequences downstream from <i>NKX2‐1</i>: A novel disease‐causing mechanism for benign hereditary chorea
Deletion of conserved non‐coding sequences downstream from <i>NKX2‐1</i>: A novel disease‐causing mechanism for benign hereditary chorea Open
Background Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by early‐onset non‐progressive involuntary movements. Although NKX2 ‐ 1 mutations or deletions are the cause of BHC, some BHC families do not have pa…
View article: Issue Information
Issue Information Open
8Effi cacy, safety, and success of 18-versus 20-gauge needle for transabdominal chorionic
View article: Single Cell atlas of uterine myometrium and leiomyomas reveals diverse and novel cell types of non-monoclonal origin
Single Cell atlas of uterine myometrium and leiomyomas reveals diverse and novel cell types of non-monoclonal origin Open
Uterine leiomyomas are the most common tumors of the female reproductive tract with significant morbidity that includes excessive bleeding, infertility and pregnancy complications. The origin and cellular composition of leiomyomas is contr…
View article: Female reproductive tract has low concentration of SARS-CoV2 receptors
Female reproductive tract has low concentration of SARS-CoV2 receptors Open
There has been significant concern regarding fertility and reproductive outcomes during the SARS-CoV2 pandemic. Recent data suggests a high concentration of SARS-Cov2 receptors, ACE2 or TMPRSS2 , in nasal epithelium and cornea, which expla…
View article: Cytogenetic signatures of recurrent pregnancy losses
Cytogenetic signatures of recurrent pregnancy losses Open
Objectives To investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL) and to determine biological mechanisms contri…
View article: Human Embryonic Expression Identifies Novel Essential Gene Candidates
Human Embryonic Expression Identifies Novel Essential Gene Candidates Open
Disruption of essential genes leads to pregnancy loss, early lethality, or severe disease. Current methods to predict genes that underlie severe phenotypes include knockout animal model systems, evolutionary conservation, and variation int…
View article: Cytogenetic signatures of recurrent pregnancy losses
Cytogenetic signatures of recurrent pregnancy losses Open
Objectives To investigate the incidence of chromosomal abnormalities in the products of conception (POC) of patients with spontaneous miscarriages (SM) and with recurrent pregnancy losses (RPL), and to determine biological mechanisms contr…
View article: Female reproductive tract has low concentration of SARS-CoV2 receptors
Female reproductive tract has low concentration of SARS-CoV2 receptors Open
There has been significant concern regarding fertility and reproductive outcomes during the SARS-CoV2 pandemic. Recent data suggests a high concentration of SARS-Cov2 receptors, ACE2 or TMPRSS2 , in nasal epithelium and cornea, which expla…
View article: Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene
Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( <i>WT1</i> ) gene Open
Significance Sex development involves a precise spatiotemporal expression and interactions of numerous genetic factors, including the WT1 (Wilms tumor 1) gene. Complete and partial loss-of-function WT1 variants are associated with 46,XY di…
View article: OR31-06 Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency
OR31-06 Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency Open
Primary ovarian insufficiency (POI) is highly heritable. The majority of cases have no known cause. We hypothesized that mutations in previously identified genes or genes from the same pathways are the cause of POI in a recessive or domina…
View article: Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch
Loss of Cx43 in Murine Sertoli Cells Leads to Altered Prepubertal Sertoli Cell Maturation and Impairment of the Mitosis-Meiosis Switch Open
Male factor infertility is a problem in today’s society but many underlying causes are still unknown. The generation of a conditional Sertoli cell (SC)-specific connexin 43 (Cx43) knockout mouse line (SCCx43KO) has provided a translational…