Pathogenic PHIP Variants are Variably Associated With CAKUT

Authors: de Fallois, Jonathan, Sieckmann, Tobias, Schönauer, Ria, Petzold, Friederike, Münch, Johannes, Pauly, Melissa, Vasileiou, Georgia, Findeisen, Christin, Kampmeier, Antje, Kuechler, Alma, Reis, André, Decker, Eva, Bergmann, Carsten, Platzer, Konrad, Tasic, Velibor, Kirschner, Karin Michaela, Shril, Shirlee, Hildebrandt, Friedhelm, Chung, Wendy K., Halbritter, Jan

Source: In Kidney International Reports August 2024 9(8):2484-2497

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease

Authors: Ambrose, John C., Arumugam, Prabhu, Bevers, Roel, Bleda, Marta, Boardman-Pretty, Freya, Boustred, Christopher R., Brittain, Helen, Caulfield, Mark J., Chan, Georgia C., Elgar, Greg, Fowler, Tom, Giess, Adam, Hamblin, Angela, Henderson, Shirley, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kasperaviciute, Dalia, Kayikci, Melis, Kousathanas, Athanasios, Lahnstein, Lea, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, McEntagart, Meriel, Minneci, Federico, Moutsianas, Loukas, Mueller, Michael, Murugaesu, Nirupa, Need, Anna C., O’Donovan, Peter, Odhams, Chris A., Patch, Christine, Pereira, Mariana Buongermino, Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Rendon, Augusto, Rogers, Tim, Savage, Kevin, Sawant, Kushmita, Scott, Richard H., Siddiq, Afshan, Sieghart, Alexander, Smith, Samuel C., Sosinsky, Alona, Stuckey, Alexander, Tanguy, Mélanie, Taylor Tavares, Ana Lisa, Thomas, Ellen R.A., Thompson, Simon R., Tucci, Arianna, Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J., Sayer, John A., Popp, Bernt, Torres, Vicente E., Hogan, Marie C., Somlo, Stefan, Watnick, Terry J., Nevens, Frederik, Besse, Whitney, Cornec-Le Gall, Emilie, Harris, Peter C., Drenth, Joost P.H., Halbritter, Jan

Source: In Gastroenterology May 2024 166(5):902-914

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

Authors: Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan

Source: American journal of human genetics. 110(6):998-1007

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191548862.0x000001&indx=1&recIds=ETOCvdc_100191548862.0x000001

Defective claudin-10 causes a novel variation of HELIX syndrome through compromised tight junction strand assembly

Authors: Sewerin, Sebastian, Piontek, Jörg, Schönauer, Ria, Grunewald, Sonja, Rauch, Angelika, Neuber, Steffen, Bergmann, Carsten, Günzel, Dorothee, Halbritter, Jan

Source: Genes & diseases. 9(5):1301-1314

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167335030.0x000001&indx=1&recIds=ETOCvdc_100167335030.0x000001

Systematic assessment of monogenic etiology in adult‐onset kidney stone formers undergoing urological intervention–evidence for genetic pretest probability

Authors: Schönauer, Ria, Scherer, Lotte, Nemitz‐Kliemchen, Melanie, Hagemann, Tobias, Hantmann, Elena, Seidel, Anna, Müller, Luise, Kehr, Stephanie, Voigt, Cornelia, Stolzenburg, Jens‐Uwe, Halbritter, Jan

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 190(3):279-288

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100163759065.0x000001&indx=1&recIds=ETOCvdc_100163759065.0x000001

Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

Authors: Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J. Austin, Hartig, Christin, Hantmann, Elena, Akay, Gulsen, Pehlivan, Davut, Mitani, Tadahiro, Coban Akdemir, Zeynep, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura R., van Eerde, Albertien M., Smol, Thomas, Devisme, Louise, Franquet, Hélène, Attié-Bitach, Tania, Wagner, Timo, Bergmann, Carsten, Höhn, Anne Kathrin, Shril, Shirlee, Pollack, Ari, Wenger, Tara, Scott, Abbey A., Paolucci, Sarah, Buchan, Jillian, Gabriel, George C., Posey, Jennifer E., Lupski, James R., Petit, Florence, McCarthy, Andrew A., Pazour, Gregory J., Lo, Cecilia W., Popp, Bernt, Halbritter, Jan

Source: Kidney international. 101(5):1039-1053

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161111792.0x000001&indx=1&recIds=ETOCvdc_100161111792.0x000001

Integrated Use of Autosomal Dominant Polycystic Kidney Disease Prediction Tools for Risk Prognostication

Authors: Wolff, Constantin A., Aiello, Valeria, Elhassan, Elhussein A.E., Cristalli, Carlotta, Lerario, Sarah, Paccapelo, Alexandro, Ciurli, Francesca, Montanari, Francesca, Conti, Amalia, Benson, Katherine, Seri, Marco, Brigl, Carolin B., Münster, Julia S., Sciascia, Nicola, Kursch, Sebastian, de Fallois, Jonathan, La Manna, Gaetano, Eckardt, Kai-Uwe, Rank, Nina, Popp, Bernt, Schönauer, Ria, Conlon, Peter J., Capelli, Irene, Halbritter, Jan

Source: Clinical Journal of The American Society of Nephrology; March 2025, Vol. 20 Issue: 3 p397-409, 13p

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes

Authors: Schönauer, Ria, Baatz, Sebastian, Nemitz-Kliemchen, Melanie, Frank, Valeska, Petzold, Friederike, Sewerin, Sebastian, Popp, Bernt, Münch, Johannes, Neuber, Steffen, Bergmann, Carsten, Halbritter, Jan

Source: In Genetics in Medicine August 2020 22(8):1374-1383

Delta weight loss unlike genetic variation associates with hyperoxaluria after malabsorptive bariatric surgery.

Authors: Scherer, Lotte¹ (AUTHOR), Schönauer, Ria^1,2 (AUTHOR), Nemitz-Kliemchen, Melanie² (AUTHOR), Hagemann, Tobias³ (AUTHOR), Hantmann, Elena² (AUTHOR), de Fallois, Jonathan¹ (AUTHOR), Petzold, Friederike¹ (AUTHOR), Blüher, Matthias³ (AUTHOR), Halbritter, Jan^1,2 (AUTHOR) jan.halbritter@charite.de

Source: Scientific Reports. 6/3/2023, Vol. 13 Issue 1, p1-12. 12p.

Subject Terms: *WEIGHT loss, *GENETIC variation, *NUCLEOTIDE sequencing, *BARIATRIC surgery, *KIDNEY stones

Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease

Authors: Ottlewski, Isabel, Münch, Johannes, Wagner, Timo, Schönauer, Ria, Bachmann, Anette, Weimann, Antje, Hentschel, Julia, Lindner, Tom H., Seehofer, Daniel, Bergmann, Carsten, Jamra, Rami Abou, Halbritter, Jan

Source: In Kidney International July 2019 96(1):222-230

Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Authors: Schönauer, Ria, Jin, Wenjun, Ertel, Anastasia, Nemitz-Kliemchen, Melanie, Panitz, Nydia, Hantmann, Elena, Seidel, Anna, Braun, Daniela A., Shril, Shirlee, Hansen, Matthias, Shahzad, Khurrum, Sandford, Richard, Saunier, Sophie, Benmerah, Alexandre, Bergmann, Carsten, Hildebrandt, Friedhelm, Halbritter, Jan

Source: Kidney international. 98(4):958-969

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100121317183.0x000001&indx=1&recIds=ETOCvdc_100121317183.0x000001

Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting

Authors: Schönauer, Ria, Petzold, Friederike, Lucinescu, Wilhelmina, Seidel, Anna, Müller, Luise, Neuber, Steffen, Bergmann, Carsten, Sayer, John A., Werner, Andreas, Halbritter, Jan

Source: Urolithiasis. 47(6):511-519

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125577452.0x000001&indx=1&recIds=ETOCvdc_100125577452.0x000001

MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT

Authors: Münch, Johannes, Engesser, Marie, Schönauer, Ria, Hamm, J Austin, Akay, Gulsen, Tüysüz, Beyhan, Shirakawa, Toshihiko, Dateki, Sumito, Claus, Laura, van Eerde, Albertien M, Wagner, Timo, Bergmann, Carsten, Buchan, Jillian, Wegner, Tara, Posey, Jennifer, Lupski, James R, Petit, Florence, Mccarthy, Andrew A, Pazour, Gregory J, Lo, Cecilia W, Popp, Bernt, Halbritter, Jan

Source: Nephrology dialysis transplantation. 37(Supplement 3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100152540686.0x000001&indx=1&recIds=ETOCvdc_100152540686.0x000001

Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease.

Authors: Schönauer, Ria, Sierks, Dana, Boerrigter, Melissa, Jawaid, Tabinda, Caroff, Lea, Audrezet, Marie-Pierre, Friedrich, Anja, Shaw, Melissa, Degenhardt, Jan, Forberger, Mirjam, de Fallois, Jonathan, Bläker, Hendrik, Bergmann, Carsten, Gödiker, Juliana, Schindler, Philipp, Schlevogt, Bernhard, Müller, Roman-U., Berg, Thomas, Patterson, Ilse, Griffiths, William J.

Source: Gastroenterology (00165085); May2024, Vol. 166 Issue 5, p902-914, 13p

The genetics of cystinuria - an update and critical reevaluation.

Authors: Baucells, Clàudia Abad, Schönauer, Ria, Halbritter, Jan

Source: Current Opinion in Nephrology & Hypertension; Mar2024, Vol. 33 Issue 2, p231-237, 7p

Mechanisms of pathogenicity and the quest for genetic modifiers of kidney disease in branchiootorenal syndrome.

Authors: Sewerin, Sebastian, Aurnhammer, Charlotte, Skubic, Cene, Cokan, Kaja Blagotinšek, Jeruc, Jera, Rozman, Damjana, Pfister, Frederick, Dittrich, Katalin, Mayer, Brigitte, Schönauer, Ria, Petzold, Friederike, Halbritter, Jan

Source: Clinical Kidney Journal; Jan2024, Vol. 17 Issue 1, p1-10, 10p

Subject Terms: KIDNEY diseases, CHRONIC kidney failure, BRANCHIAL arch, SYMPTOMS, URINARY organs, KIDNEY failure

Company/Entity: UNITED States. Bureau of Reclamation

OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis

Authors: Majmundar, Amar J., Widmeier, Eugen, Heneghan, John F., Daga, Ankana, Wu, Chen-Han Wilfred, Buerger, Florian, Hugo, Hannah, Ullah, Ihsan, Amar, Ali, Ottlewski, Isabel, Braun, Daniela A., Jobst-Schwan, Tilman, Lawson, Jennifer A., Zahoor, Muhammad Yasir, Rodig, Nancy M., Tasic, Velibor, Nelson, Caleb P., Khaliq, Shagufta, Schönauer, Ria, Halbritter, Jan, Sayer, John A., Fathy, Hanan M., Baum, Michelle A., Shril, Shirlee, Mane, Shrikant, Alper, Seth L., Hildebrandt, Friedhelm

Source: In Genetics in Medicine March 2023 25(3)

Adrenomedullin disulfide bond mimetics uncover structural requirements for AM1 receptor activation

Authors: Fischer, Jan‐Patrick, Schönauer, Ria, Els‐Heindl, Sylvia, Bierer, Donald, Koebberling, Johannes, Riedl, Bernd, Beck‐Sickinger, Annette G.

Source: Journal of peptide science. 25(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100088941837.0x000001&indx=1&recIds=ETOCvdc_100088941837.0x000001

Clinical and Functional Assessment of Digenicity in Renal Phosphate Wasting.

Authors: Petzold, Friederike, Schönauer, Ria, Werner, Andreas, Halbritter, Jan

Source: Nutrients; May2023, Vol. 15 Issue 9, p2081, 13p

KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease

Authors: Boulogne, Floranne, Claus, Laura R., Wiersma, Henry, Oelen, Roy, Schukking, Floor, de Klein, Niek, Li, Shuang, Westra, Harm-Jan, van der Zwaag, Bert, van Reekum, Franka, Sierks, Dana, Schönauer, Ria, Li, Zhigui, Bijlsma, Emilia K., Bos, Willem Jan W., Halbritter, Jan, Knoers, Nine V. A. M., Besse, Whitney, Deelen, Patrick, Franke, Lude, van Eerde, Albertien M.

Source: European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-9, 9p