Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases

Authors: Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schürfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Gödel, Markus, Wiesener, Antje, Popp, Bernt, Stark, Klaus J., Gröne, Hermann-Josef, Friedrich, Björn, Weiß, Martin, Basic-Jukic, Nikolina, Schiffer, Mario, Schröppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Büttner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, André, Pasutto, Francesca, Wiesener, Michael S.

Source: Kidney international. 102(2):405-420

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100167382066.0x000001&indx=1&recIds=ETOCvdc_100167382066.0x000001

Further characterization of Borjeson‐Forssman‐Lehmann syndrome in females due to de novo variants in PHF6

Authors: Gerber, Céline B., Fliedner, Anna, Bartsch, Oliver, Berland, Siren, Dewenter, Malin, Haug, Marte, Hayes, Ian, Marin‐Reina, Purificacion, Mark, Paul R., Martinez‐Castellano, Francisco, Maystadt, Isabelle, Karadurmus, Deniz, Steindl, Katharina, Wiesener, Antje, Zweier, Markus, Sticht, Heinrich, Zweier, Christiane

Source: Clinical genetics. 102(3):182-190

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100157755055.0x000001&indx=1&recIds=ETOCvdc_100157755055.0x000001

Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

Authors: Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

Source: In Genetics in Medicine July 2021 23(7):1234-1245

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Authors: Vera, Gabriella, Sorlin, Arthur, Delplancq, Geoffroy, Lecoquierre, François, Brasseur-Daudruy, Marie, Petit, Florence, Smol, Thomas, Ziegler, Alban, Bonneau, Dominique, Colin, Estelle, Mercier, Sandra, Cogné, Benjamin, Bézieau, Stéphane, Edery, Patrick, Lesca, Gaetan, Chatron, Nicolas, Sabatier, Isabelle, Duban-Bedu, Bénédicte, Colson, Cindy, Piton, Amélie, Durand, Benjamin, Capri, Yline, Perrin, Laurence, Wiesener, Antje, Zweier, Christiane, Maroofian, Reza, Carroll, Christopher J., Galehdari, Hamid, Mazaheri, Neda, Callewaert, Bert, Giulianno, Fabienne, Zaafrane-Khachnaoui, Khaoula, Buchert-Lo, Rebecca, Haack, Tobias, Magg, Janine, Rieß, Angelika, Blandfort, Maria, Waldmüller, Stephan, Horber, Veronka, Leonardi, Emanuela, Polli, Roberta, Turolla, Licia, Murgia, Alessandra, Frebourg, Thierry, Lebre, Anne Sophie, Nicolas, Gaël, Saugier-Veber, Pascale, Guerrot, Anne-Marie

Source: In European Journal of Medical Genetics October 2020 63(10)

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Authors: Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

Source: American journal of human genetics. 107(3):544-554

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100136697697.0x000001&indx=1&recIds=ETOCvdc_100136697697.0x000001

Molecular diagnosis of kidney transplant failure based on urine

Authors: Wiesener, Antje, Knaup, Karl X., Büttner‐Herold, Maike, Dieterle, Anne, Stoeckert, Johanna, Riedl, Bernhard, Morath, Christian, Wald, Alexandra, Vondran, Florian, Braun, Felix, Schödel, Johannes, Schueler, Markus, Schiffer, Mario, Amann, Kerstin, Reis, André, Kraus, Cornelia, Wiesener, Michael S.

Source: American journal of transplantation. 20(5):1410-1416

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100107029911.0x000001&indx=1&recIds=ETOCvdc_100107029911.0x000001

Progressive Kidney Failure by Angiotensinogen Inactivation in the Germline.

Authors: Wopperer, Florian J., Olinger, Eric, Wiesener, Antje, Broeker, Katharina A. E., Knaup, Karl X., Schaefer, Jan T., Galiano, Matthias, Schneider, Karen, Schiffer, Mario, Büttner-Herold, Maike, Reis, André, Schmieder, Roland, Pasutto, Francesca, Hilgers, Karl F., Poglitsch, Marko, Ziegler, Christine, Shoemaker, Robin, Sayer, John A., Wiesener, Michael S.

Source: Hypertension (0194911X); Sep2024, Vol. 81 Issue 9, p1857-1868, 12p

Is MED13L-related intellectual disability a recognizable syndrome?

Authors: Tørring, Pernille Mathiesen, Larsen, Martin Jakob, Brasch-Andersen, Charlotte, Krogh, Lotte Nylandsted, Kibæk, Maria, Laulund, Lone, Illum, Niels, Dunkhase-Heinl, Ulrike, Wiesener, Antje, Popp, Bernt, Marangi, Giuseppe, Hjortshøj, Tina Duelund, Ek, Jakob, Vogel, Ida, Becher, Naja, Roos, Laura, Zollino, Marcella, Fagerberg, Christina Ringmann

Source: In European Journal of Medical Genetics February 2019 62(2):129-136

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Authors: Hauer, Nadine N., Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E., Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B., Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T.

Source: In Genetics in Medicine June 2018 20(6):630-638

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Authors: Hauer, Nadine, Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai, Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif, Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman, Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian

Source: European journal of human genetics. 27(7):1061-1071

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100181196997.0x000001&indx=1&recIds=ETOCvdc_100181196997.0x000001

Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L. E. Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., Bryant, Laura M.

Source: European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p928-937, 10p

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

Authors: Hauer, Nadine, Sticht, Heinrich, Boppudi, Sangamitra, Büttner, Christian, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Wieczorek, Dagmar, Kelkel, Jaqueline, Jung, Anna-Maria, Uebe, Steffen, Ekici, Arif., Rohrer, Tilman, Reis, André, Dörr, Helmuth-Günther, Thiel, Christian

Source: Scientific reports. 7(1):1-6

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100182774729.0x000001&indx=1&recIds=ETOCvdc_100182774729.0x000001

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Authors: Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T

Source: Genetics in medicine. 20(6):630-638

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129949491.0x000001&indx=1&recIds=ETOCvdc_100129949491.0x000001

Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin

Authors: Ekici, Arif B., Hackenbeck, Thomas, Morinière, Vincent, Pannes, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje ^*, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B., Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, André, Eckardt, Kai-Uwe, Wiesener, Michael S. ^*

Source: In Kidney International September 2014 86(3):589-599

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Authors: Rauch, Anita, Wieczorek, Dagmar, Graf, Elisabeth, Wieland, Thomas, Endele, Sabine, Schwarzmayr, Thomas, Albrecht, Beate, Bartholdi, Deborah, Beygo, Jasmin, Di Donato, Nataliya, Dufke, Andreas, Cremer, Kirsten, Hempel, Maja, Horn, Denise, Hoyer, Juliane, Joset, Pascal, Röpke, Albrecht, Moog, Ute, Riess, Angelika, Thiel, Christian T, Tzschach, Andreas, Wiesener, Antje, Wohlleber, Eva, Zweier, Christiane, Ekici, Arif B, Zink, Alexander M, Rump, Andreas, Meisinger, Christa, Grallert, Harald, Sticht, Heinrich, Schenck, Annette, Engels, Hartmut, Rappold, Gudrun, Schröck, Evelin, Wieacker, Peter, Riess, Olaf, Meitinger, Thomas, Reis, André, Strom, Tim M

Source: In The Lancet 10-16 November 2012 380(9854):1674-1682

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

Authors: Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Deignan, Joshua L., Kang, Sung-Hae, Arboleda, Valerie A., Senaratne, T. Niroshi, Dorrani, Naghmeh, Dutra-Clarke, Marina S., Kianmahd, Jessica, Hinkamp, Franceska L., Neustadt, Ahna M., Martinez-Agosto, Julian A., Fogel, Brent L., Quintero-Rivera, Fabiola, Fliedner, Anna, Kirchner, Philipp, Wiesener, Antje, van de Beek, Irma, Waisfisz, Quinten, van Haelst, Mieke, Scott, Daryl A., Lalani, Seema R., Rosenfeld, Jill A., Azamian, Mahshid S., Xia, Fan, Dutra-Clarke, Marina, Noh, Grace J., Lippa, Natalie, Alkelai, Anna, Aggarwal, Vimla, Agre, Katherine E., Gavrilova, Ralitza, Mirzaa, Ghayda M., Straussberg, Rachel, Cohen, Rony, Horist, Brooke, Krishnamurthy, Vidya, McWalter, Kirsty, Juusola, Jane, Davis-Keppen, Laura, Ohden, Lisa, van Slegtenhorst, Marjon, de Man, Stella A., Ekici, Arif B., Gregor, Anne, van de Laar, Ingrid, Zweier, Christiane

Source: In The American Journal of Human Genetics 3 September 2020 107(3):544-554

ARHGEF9 disease

Authors: Alber, Michael, Kalscheuer, Vera M., Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W., Marshall, Christian R., Walker, Susan, Dutta, Usha R., Dalal, Ashwin B., Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A.

Source: Neurology.Genetics. 3(3)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100045400892.0x000001&indx=1&recIds=ETOCvdc_100045400892.0x000001

Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.

Authors: Tiosano, Dov^1,2, Baris, Hagit N.^2,3, Chen, Anlu⁴, Hitzert, Marrit M.⁵, Schueler, Markus⁶, Gulluni, Federico⁷, Wiesener, Antje⁸, Bergua, Antonio⁹, Mory, Adi³, Copeland, Brett¹⁰, Gleeson, Joseph G.^10,11, Rump, Patrick⁵, van Meer, Hester¹², Sival, Deborah A.¹², Haucke, Volker¹³, Kriwinsky, Josh¹⁴, Knaup, Karl X.⁶, Reis, André⁸, Hauer, Nadine N.⁸, Hirsch, Emilio⁷

Source: PLoS Genetics; 4/29/2019, Vol. 15 Issue 4, p1-21, 21p

The Novel MYH9 Variant, c.1270C>G, p.Arg424Gly, Causes Epstein-Fechtner Syndrome by the Modification of Nonmuscular Myosin IIA Contraction

Authors: Pollinger, Lena, Greve, Johannes N., Kaliman, Sara, Abuhattum, Shada, Kräter, Martin, Wiesener, Antje, Pasutto, Francesca, Grosch, Melanie, Haak, Jan René, Kolb, Cathiana, Daniel, Christoph, Amann, Kerstin U., Schiffer, Mario, Manstein, Dietmar J., Wiesener, Michael Sean, Jobst-Schwan, Tilman

Source: Journal of the American Society of Nephrology; October 2024, Vol. 35 Issue: 10, Number 10 Supplement 10

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Synodinos, Joanne Traeger, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, Guyader, Gwenaël L. E., Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., Bryant, Laura M.

Source: European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p1032-1032, 1p