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10 results on '"Rump, Patrick"'

1. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Author

de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V. A. M., de Borst, Martin H., Nephrology, ACS - Microcirculation, and APH - Health Behaviors & Chronic Diseases

Subjects
Nephrology, massively parallel sequencing, MUC1, autosomal dominant tubulointerstitial kidney disease, ADTKD-MUC1, chronic kidney disease
Published
2023
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2. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Author

AIOS Psychiatrie, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., de Borst, Martin H., AIOS Psychiatrie, Genetica, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, de Haan, Amber, van Eerde, Albertien M., Eijgelsheim, Mark, Rump, Patrick, van der Zwaag, Bert, Hennekam, Eric, Živná, Martina, Kmoch, Stanislav, Bleyer, Anthony J., Kidd, Kendrah, Vogt, Liffert, Knoers, Nine V.A.M., and de Borst, Martin H.

Published
2023

3. DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

Author

Coenen-van der Spek, Jet, primary, Relator, Raissa, additional, Kerkhof, Jennifer, additional, McConkey, Haley, additional, Levy, Michael A., additional, Tedder, Matthew L., additional, Louie, Raymond J., additional, Fletcher, Robin S., additional, Moore, Hannah W., additional, Childers, Anna, additional, Farrelly, Ellyn R., additional, Champaigne, Neena L., additional, Lyons, Michael J., additional, Everman, David B., additional, Rogers, R. Curtis, additional, Skinner, Steven A., additional, Renck, Alicia, additional, Matalon, Dena R., additional, Dills, Shelley K., additional, Monteleone, Berrin, additional, Demirdas, Serwet, additional, Dingemans, Alexander J.M., additional, Donker Kaat, Laura, additional, Kolk, Sharon M., additional, Pfundt, Rolph, additional, Rump, Patrick, additional, Sadikovic, Bekim, additional, Kleefstra, Tjitske, additional, and Butler, Kameryn M., additional

Published
2023
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4. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Author

Oh, Rachel Youjin, primary, Deshwar, Ashish R., additional, Marwaha, Ashish, additional, Sabha, Nesrin, additional, Tropak, Michael, additional, Hou, Huayun, additional, Yuki, Kyoko E., additional, Wilson, Michael D., additional, Rump, Patrick, additional, Lunsing, Roelineke, additional, Elserafy, Noha, additional, Chung, Clara W.T., additional, Hewson, Stacy, additional, Klein-Rodewald, Tanja, additional, Calzada-Wack, Julia, additional, Sanz-Moreno, Adrián, additional, Kraiger, Markus, additional, Marschall, Susan, additional, Fuchs, Helmut, additional, Gailus-Durner, Valerie, additional, Hrabe de Angelis, Martin, additional, Dowling, James, additional, and Schulze, Andreas, additional

Published
2022
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6. NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY

Author

Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Cancer, Genetica, de Haan, Amber, Eijgelsheim, Mark, Rump, Patrick, Van der Zwaag, Bert, Zivna, Martina, Kmoch, Stanislav, Bleyer, Anthony, Kidd, Kendrah, Van Eerde, Albertien M., Knoers, Nine, De Borst, Martin, Genetica Sectie Genoomdiagnostiek, Child Health, Genetica Klinische Genetica, Cancer, Genetica, de Haan, Amber, Eijgelsheim, Mark, Rump, Patrick, Van der Zwaag, Bert, Zivna, Martina, Kmoch, Stanislav, Bleyer, Anthony, Kidd, Kendrah, Van Eerde, Albertien M., Knoers, Nine, and De Borst, Martin

Published
2022

7. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family

Author

de Haan, Amber, primary, Eijgelsheim, Mark, additional, Rump, Patrick, additional, Van der Zwaag, Bert, additional, Zivna, Martina, additional, Kmoch, Stanislav, additional, Bleyer, Anthony, additional, Kidd, Kendrah, additional, Van Eerde, Albertien M, additional, Knoers, Nine, additional, and De Borst, Martin, additional

Published
2022
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8. De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila

Author

Chung, Hyung-Lok, primary, Rump, Patrick, additional, Lu, Di, additional, Glassford, Megan R, additional, Mok, Jung-Wan, additional, Fatih, Jawid, additional, Basal, Adily, additional, Marcogliese, Paul C, additional, Kanca, Oguz, additional, Rapp, Michele, additional, Fock, Johanna M, additional, Kamsteeg, Erik-Jan, additional, Lupski, James R, additional, Larson, Austin, additional, Haninbal, Mark C, additional, Bellen, Hugo, additional, and Harel, Tamar, additional

Published
2022
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10. Biallelic loss-of-function variants in RABGAP1cause a novel neurodevelopmental syndrome

Author

Oh, Rachel Youjin, Deshwar, Ashish R., Marwaha, Ashish, Sabha, Nesrin, Tropak, Michael, Hou, Huayun, Yuki, Kyoko E., Wilson, Michael D., Rump, Patrick, Lunsing, Roelineke, Elserafy, Noha, Chung, Clara W.T., Hewson, Stacy, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Sanz-Moreno, Adrián, Kraiger, Markus, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Dowling, James, and Schulze, Andreas

Abstract

RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1.

Published
2022
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