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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

Genetics in medicine, 2020-10, Vol.22 (10), p.1673-1681

2020

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In HPV-Positive HNSCC Cells, Functional Restoration of the p53/p21 Pathway by Proteasome Inhibitor Bortezomib Does Not Affect Radio- or Chemosensitivity

Translational oncology, 2019-03, Vol.12 (3), p.417-425

2019

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Einfluss der Bortezomib-induzierten p53-Reaktivierung auf die Strahlen- und Chemosensibilität HPV-assoziierter Plattenepithelkarzinome der Kopf-Hals-Region

Seltzsam, Steve

2019

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Genetic Contributions to Lower Urinary Tract Dysfunction: SA-PO815

Journal of the American Society of Nephrology, 2023-11, Vol.34 (11S), p.955-955

2023

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Additional Mutations in NRIP1 in Families with Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT): PO1671

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.527-527

2020

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Whole-Exome Sequencing Identifies FOXL2, FOXA2, and FOXA3 as Candidate Genes for Monogenic Congenital Anomalies of the Kidneys and Urinary Tract: PO1344

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.429-429

2021

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Reverse Phenotyping Facilitates Disease Allele Calling in Whole-Exome Sequencing of Patients with Congenital Anomalies of Kidney and Urinary Tract (CAKUT): PO1348

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.430-430

2021

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Genetic Contributions to Lower Urinary Tract Dysfunction

American journal of medical genetics. Part A, 2024-09, p.e63859

2024

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Exome Sequencing in Individuals with CAKUT Identifies De Novo Variants in Novel Candidate Genes in 15.5: SA-PO810

Journal of the American Society of Nephrology, 2023-11, Vol.34 (11S), p.954-954

2023

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CHRM5 Mutations as a Potential Cause of Neurogenic Bladder: PO1635

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.517-517

2020

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Generating Monogenic CAKUT Candidate Genes from Existing Single-Cell Transcriptomics Data of Human Fetal Kidney: PO1634

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.517-517

2020

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Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Nephrology, dialysis, transplantation, 2022-09, Vol.37 (10), p.1833-1843

2022

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Copy Number Variation Analysis Increases Diagnostic Yield of Exome Sequencing and Facilitates the Identification of Genetic Causation for Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT): PO1649

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.521-521

2020

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In the Presence of Genetic Heterogeneity of CAKUT, Whole-Exome Sequencing Establishes a Molecular Genetic Diagnosis in 14% of Cases: PO1643

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.519-520

2020

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Whole-Exome Sequencing Identifies Likely Causative Variants in Four Candidate Genes in 16 Families with Spina Bifida: PO1645

Journal of the American Society of Nephrology, 2020-10, Vol.31 (10S), p.520-520

2020

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Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

American journal of human genetics, 2020-10, Vol.107 (4), p.727-742

2020

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Whole-Exome Sequencing Identifies Likely Deleterious Variants in 50 Families with Spina Bifida: PO1345

Journal of the American Society of Nephrology, 2021-10, Vol.32 (10S), p.429-429

2021

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DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

American journal of human genetics, 2020-12, Vol.107 (6), p.1113-1128

2020

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A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

American journal of medical genetics. Part A, 2023-05, Vol.191 (5), p.1355-1359

2023

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Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Journal of the American Society of Nephrology, 2023-02, Vol.34 (2), p.273-290

2023

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Recessive CHRM5 variant as a potential cause of neurogenic bladder

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2083-2091

2023

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Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Genetics in medicine, 2022-02, Vol.24 (2), p.307-318

2022

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Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

Nephron (2015), 2023-01, Vol.147 (11), p.685-692

2023

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A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.310-313

2022

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Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

In HPV-Positive HNSCC Cells, Functional Restoration of the p53/p21 Pathway by Proteasome Inhibitor Bortezomib Does Not Affect Radio- or Chemosensitivity

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

Einfluss der Bortezomib-induzierten p53-Reaktivierung auf die Strahlen- und Chemosensibilität HPV-assoziierter Plattenepithelkarzinome der Kopf-Hals-Region

Genetic Contributions to Lower Urinary Tract Dysfunction: SA-PO815

Additional Mutations in NRIP1 in Families with Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT): PO1671

Whole-Exome Sequencing Identifies FOXL2, FOXA2, and FOXA3 as Candidate Genes for Monogenic Congenital Anomalies of the Kidneys and Urinary Tract: PO1344

Reverse Phenotyping Facilitates Disease Allele Calling in Whole-Exome Sequencing of Patients with Congenital Anomalies of Kidney and Urinary Tract (CAKUT): PO1348

Genetic Contributions to Lower Urinary Tract Dysfunction

Exome Sequencing in Individuals with CAKUT Identifies De Novo Variants in Novel Candidate Genes in 15.5: SA-PO810

CHRM5 Mutations as a Potential Cause of Neurogenic Bladder: PO1635

Generating Monogenic CAKUT Candidate Genes from Existing Single-Cell Transcriptomics Data of Human Fetal Kidney: PO1634

Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

Copy Number Variation Analysis Increases Diagnostic Yield of Exome Sequencing and Facilitates the Identification of Genetic Causation for Congenital Anomalies of the Kidneys and Urinary Tract (CAKUT): PO1649

In the Presence of Genetic Heterogeneity of CAKUT, Whole-Exome Sequencing Establishes a Molecular Genetic Diagnosis in 14% of Cases: PO1643

Whole-Exome Sequencing Identifies Likely Causative Variants in Four Candidate Genes in 16 Families with Spina Bifida: PO1645

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

Whole-Exome Sequencing Identifies Likely Deleterious Variants in 50 Families with Spina Bifida: PO1345

DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract

Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs

Recessive CHRM5 variant as a potential cause of neurogenic bladder

Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney

A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract

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