Jasmina Ćomić
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View article: Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data
Estimating Lifetime Risk of Autosomal Recessive Kidney Diseases Using Population-Based Genotypic Data Open
This study offers a comprehensive population-genetic assessment of the lifetime risk associated with ARKDs focusing on European populations, shedding light on previously underestimated prevalences and diagnostic probabilities. Consequently…
View article: COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype
COL4A5-p.Gly624Asp is the Predominant Variant in Europe Associated With a Mild Alport Syndrome Phenotype Open
The predominance of the European COL4A5 founder variant p.Gly624Asp allowed for the creation of the largest cohort of patients with an identical Alport variant to date, confirming the more favorable renal prognosis specific to this …
View article: Trio Exome Sequencing in VACTERL Association
Trio Exome Sequencing in VACTERL Association Open
View article: #1012 Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases
#1012 Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases Open
Background and Aims Genetic kidney diseases represent an often rare and clinically diverse group. Their distinct clinical and genetic variations and biases in patient referrals and identification pose challenges in phenotype-based estimate…
View article: Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in <i>COL4A3/COL4A4</i>?
Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in <i>COL4A3/COL4A4</i>? Open
Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end‐stage kidney disease (ESKD). Monoallelic disease‐causing variants in COL4A3 / COL4A4 have been associated with autosomal dominan…
View article: Table_Nephropathies_Lifetime risk_Raw data excluded variants.xlsx
Table_Nephropathies_Lifetime risk_Raw data excluded variants.xlsx Open
Raw data to the paper " Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases". All excluded variants, their allele frequencies as listed in our in-house and gnomAD database.
View article: Table_Nephropathies_Lifetime risk_Raw data included variants.xlsx
Table_Nephropathies_Lifetime risk_Raw data included variants.xlsx Open
Raw data to the paper " Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases". All (likely) pathogenic included variants, their allele frequencies as listed in our in-house and gnomAD database.
View article: Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) Open
Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below age 30 years. Many monogenic forms have been discovered due to comprehensive genetic testing like exome sequencing. How…
View article: #4876 CLASSIFICATION OF BIOPSY FINDINGS IN INDIVIDUALS WITH NEPHROPATHIES USING MOLECULAR GENETIC TESTING AND PROTEOMICS
#4876 CLASSIFICATION OF BIOPSY FINDINGS IN INDIVIDUALS WITH NEPHROPATHIES USING MOLECULAR GENETIC TESTING AND PROTEOMICS Open
Background and Aims In approximately 10% of adults with chronic kidney disease, a hereditary cause can be identified. Important representatives are Alport syndrome and inherited podocytopathies, which often show the histological picture of…
View article: Implication of<i>FOXD2</i>dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)
Implication of<i>FOXD2</i>dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) Open
Background Congenital anomalies of the kidney and urinary tract (CAKUT) are the predominant cause for chronic kidney disease below 30 years of age. Many monogenic forms have been discovered mainly due to comprehensive genetic testing like …
View article: Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience Open
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A mon…
View article: Lifetime Risk of Autosomal Recessive Kidney Diseases Calculated from Genetic Databases
Lifetime Risk of Autosomal Recessive Kidney Diseases Calculated from Genetic Databases Open
View article: Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience Open
Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A mon…
View article: Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age
Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age Open
X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney dise…
View article: High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases Open
Background Steroid resistant nephrotic syndrome (SRNS) represents a significant renal disease burden in childhood and adolescence. In contrast to steroid sensitive nephrotic syndrome (SSNS), renal outcomes are significantly poorer in SRNS.…
View article: The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience
The multifaceted phenotypic and genotypic spectrum of type-IV-collagen-related nephropathy—A human genetics department experience Open
Disease-causing variants in COL4A3- 5 are associated with type-IV-collagen-related nephropathy, a genetically and phenotypically multifaceted disorder comprising Alport syndrome (AS) and thin basement membrane nephropathy (TBMN) and autoso…