Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions
Deutsch, Konstantin, Klämbt, Verena, Kitzler, Thomas M., Jobst-Schwan, Tilman, Schneider, Ronen, Buerger, Florian, Seltzsam, Steve, El Desoky, Sherif, Kari, Jameela A., Hafeez, Farkhanda, Szczepańska, Maria, Eid, Loai A., Awad, Hazem S., Al-Saffar, Muna, Soliman, Neveen A., Tasic, Velibor, Nicolas-Frank, Camille, Yousef, Kirollos, Schierbaum, Luca M., Schneider, Sophia, Halawi, Abdul, Elmubarak, Izzeldin, Lemberg, Katharina, Shril, Shirlee, Mane, Shrikant M., Rodig, Nancy, Hildebrandt, Friedhelm
Published in Genes & diseases (01.09.2024)
Published in Genes & diseases (01.09.2024)
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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
Schierbaum, Luca M, Schneider, Sophia, Buerger, Florian, Halawi, Abdul Aziz, Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Wu, Chen-Han Wilfried, Dai, Rufeng, Connaughton, Dervla M, Salmanullah, Daanya, Nakayama, Makiko, Mann, Nina, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Nephron (2015) (01.01.2023)
Published in Nephron (2015) (01.01.2023)
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Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO)
Schierbaum, Luca M, Schneider, Sophia, Herms, Stefan, Sivalingam, Sugirthan, Fabian, Julia, Reutter, Heiko, Weber, Stefanie, Merz, Waltraut M, Tkaczyk, Marcin, Miklaszewska, Monika, Sikora, Przemyslaw, Szmigielska, Agnieszka, Krzemien, Grazyna, Zachwieja, Katarzyna, Szczepanska, Maria, Taranta-Janusz, Katarzyna, Kroll, Pawel, Polok, Marcin, Zaniew, Marcin, Hilger, Alina C
Published in Genes (20.09.2021)
Published in Genes (20.09.2021)
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Detection of X-Linked Variations in SHROOM4 in Four Families With Syndromic Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): SA-PO572
Kolvenbach, Caroline M., Felger, Tim, Schierbaum, Luca M., Thiffault, Isabelle, Zaniew, Marcin, Hildebrandt, Friedhelm, Grote, Phillip, Odermatt, Benjamin, Reutter, Heiko M., Dworschak, Gabriel C.
Published in Journal of the American Society of Nephrology (01.11.2022)
Published in Journal of the American Society of Nephrology (01.11.2022)
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Journal Article
Whole-Exome Sequencing Identifies FOXL2, FOXA2, and FOXA3 as Candidate Genes for Monogenic Congenital Anomalies of the Kidneys and Urinary Tract: PO1344
Zheng, Bixia, Seltzsam, Steve, Wang, Chunyan, Schierbaum, Luca M., Schneider, Sophia, Connaughton, Dervla M., Mann, Nina, Tasic, Velibor, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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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
Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Connaughton, Dervla M., Wu, Chen-Han W., Schneider, Sophia, Schierbaum, Luca M., Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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Journal Article
CHRM5 Mutations as a Potential Cause of Neurogenic Bladder: PO1635
Schneider, Sophia, Schierbaum, Luca M., Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Wu, Chen-Han W., Nakayama, Makiko, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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Generating Monogenic CAKUT Candidate Genes from Existing Single-Cell Transcriptomics Data of Human Fetal Kidney: PO1634
Schierbaum, Luca M., Schneider, Sophia, Buerger, Florian, Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Wu, Chen-Han W., Nakayama, Makiko, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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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
Wu, Chen-Han W., Lim, Tze Yin, Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Schierbaum, Luca M., Schneider, Sophia, Mann, Nina, Connaughton, Dervla M., Bauer, Stuart B., Sanna-Cherchi, Simone, Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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Whole-Exome Sequencing Identifies Likely Causative Variants in Four Candidate Genes in 16 Families with Spina Bifida: PO1645
Wang, Chunyan, Wu, Chen-Han W., Seltzsam, Steve, Zheng, Bixia, Schneider, Sophia, Schierbaum, Luca M., Mann, Nina, Nakayama, Makiko, Shril, Shirlee, Bauer, Stuart B., Baum, Michelle A., Estrada, Carlos R., Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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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
Seltzsam, Steve, Wang, Chunyan, Zheng, Bixia, Wu, Chen-Han W., Schneider, Sophia, Schierbaum, Luca M., Connaughton, Dervla M., Van der ven, Amelie, Mann, Nina, Nakayama, Makiko, Dai, Rufeng, Kause, Franziska, Kolvenbach, Caroline M., Mane, Shrikant M., Shril, Shirlee, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2020)
Published in Journal of the American Society of Nephrology (01.10.2020)
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Journal Article
Whole-Exome Sequencing Identifies Likely Deleterious Variants in 50 Families with Spina Bifida: PO1345
Wang, Chunyan, Seltzsam, Steve, Zheng, Bixia, Wu, Chen-Han W., Nicolas Frank, Camille H., Yousef, Kirollos, Mann, Nina, Schneider, Sophia, Schierbaum, Luca M., Pantel, Dalia, Kari, Jameela A., El desoky, Sherif M., Eid, Loai A., Tasic, Velibor, Shril, Shirlee, Baum, Michelle A., Estrada, Carlos R., Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.10.2021)
Published in Journal of the American Society of Nephrology (01.10.2021)
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