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Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT) Riedhammer, Korbinian M.; Nguyen, Thanh-Minh T.; Kosukcu, Can; Calzada-Wack, Julia; Li, Yong; Batzir, Nurit Assia; Saygili, Seha; Wimmers, Vera; Kim, Gwang-Jin; Chrysanthou, Marialena; Bakey, Zeineb; Sofrin-Drucker, Efrat; Kraiger, Markus; Sanz-Moreno, Adrian; Amarie, Oana V.; Rathkolb, Birgit; Klein-Rodewald, Tanja; Garrett, Lillian; Hoelter, Sabine M.; Seisenberger, Claudia; Haug, Stefan; Schlosser, Pascal; Marschall, Susan; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Wuttke, Matthias; de Angelis, Martin Hrabe; Comic, Jasmina; Dogan, Ozlem Akgun; Ozluk, Yasemin; Tasdemir, Mehmet; Agbas, Ayse; Canpolat, Nur; Orenstein, Naama; Caliskan, Salim; Weber, Ruthild G.; Bergmann, Carsten; Jeanpierre, Cecile; Saunier, Sophie; Lim, Tze Y.; Hildebrandt, Friedhelm; Alhaddad, Bader; Basel-Salmon, Lina; Borovitz, Yael; Wu, Kaman; Antony, Dinu; Matschkal, Julia; Schaaf, Christian W.; Renders, Lutz; Schmaderer, Christoph; Rogg, Manuel; Schell, Christoph; Meitinger, Thomas; Heemann, Uwe; Koettgen, Anna; Arnold, Sebastian J.; Ozaltin, Fatih; Schmidts, Miriam; Hoefele, Julia Share Save
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (vol 110, pg 120, 2023) Paul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Haack, B. Ulrike Blumlein Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V.; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B. Share Save
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Paul, Maimuna S.; Duncan, Anna R.; Genetti, Casie A.; Pan, Hongling; Jackson, Adam; Grant, Patricia E.; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P.; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Bluemlein, Ulrike; Haack, Tobias B.; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni, V; Palculict, Timothy Blake; Calame, Daniel G.; Schwan, Katharina; Aycinena, Alicia R. P.; Traberg, Rasa; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B. Share Save
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C. Share Save
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy (vol 144, pg 411, 2020) Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Krageloh-Mann, Ingeborg; Vill, Katharina Share Save
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum (vol 144, e30, 2021) Kaiyrzhanov, Rauan; Wortmann, Saskia; Reid, Taryn; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Alhaddad, Bader; Wagner, Matias; Deschauer, Marcus; Cordts, Isabell; Fernandez-Murray, J. Pedro; Treffer, Veronika; Metanat, Zahra; Pittman, Alan; Houlden, Henry; Meitinger, Thomas; Carroll, Christopher; McMaster, Christopher R.; Maroofian, Reza Share Save
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics Begemann, Anais; Sticht, Heinrich; Begtrup, Amber; Vitobello, Antonio; Faivre, Laurence; Banka, Siddharth; Alhaddad, Bader; Asadollahi, Reza; Becker, Jessica; Bierhals, Tatjana; Brown, Kathleen E.; Bruel, Ange-Line; Brunet, Theresa; Carneiro, Maryline; Cremer, Kirsten; Day, Robert; Denomme-Pichon, Anne-Sophie; Dyment, Dave A.; Engels, Hartmut; Fisher, Rachel; Goh, Elaine S.; Hajianpour, M. J.; Machado Haertel, Lucia Ribeiro; Hauer, Nadine; Hempel, Maja; Herget, Theresia; Johannsen, Jessika; Kraus, Cornelia; Le Guyader, Gwenael; Lesca, Gaetan; Mau-Them, Frederic Tran; McDermott, John Henry; McWalter, Kirsty; Meyer, Pierre; Ounap, Katrin; Popp, Bernt; Reimand, Tiia; Riedhammer, Korbinian M.; Russo, Martina; Sadleir, Lynette G.; Saenz, Margarita; Schiff, Manuel; Schuler, Elisabeth; Syrbe, Steffen; Van der Ven, Amelie Theresa; Verloes, Alain; Willems, Marjolaine; Zweier, Christiane; Steindl, Katharina; Zweier, Markus; Rauch, Anita Share Save
Bi-allelic truncating mutations in VWA1 cause neuromyopathy Deschauer, Marcus; Hengel, Holger; Rupprich, Katrin; Kreiss, Martina; Schlotter-Weigel, Beate; Grimmel, Mona; Admard, Jakob; Schneider, Ilka; Alhaddad, Bader; Gazou, Anastasia; Sturm, Marc; Vorgerd, Matthias; Balousha, Ghassan; Balousha, Osama; Falna, Mohammed; Kirschke, Jan S.; Kornblum, Cornelia; Jordan, Berit; Kraya, Torsten; Strom, Tim M.; Weis, Joachim; Schoels, Ludger; Schara, Ulrike; Zierz, Stephan; Riess, Olaf; Meitinger, Thomas; Haack, Tobias B. Share Save
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum Kaiyrzhanov, Rauan; Wortmann, Saskia; Reid, Taryn; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Alhaddad, Bader; Wagner, Matias; Deschauer, Marcus; Cordts, Isabell; Fernandez-Murray, J. Pedro; Treffer, Veronika; Metanat, Zahra; Pitman, Alan; Houlden, Henry; Meitinger, Thomas; Carroll, Christopher; McMaster, Christopher R.; Maroofian, Reza Share Save
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy Riedhammer, Korbinian M.; Stockler, Sylvia; Ploski, Rafal; Wenzel, Maren; Adis-Dutschmann, Burkhard; Ahting, Uwe; Alhaddad, Bader; Blaschek, Astrid; Haack, Tobias B.; Kopajtich, Robert; Lee, Jessica; Pienkowski, Victor Murcia; Pollak, Agnieszka; Szymanska, Krystyna; Tarailo-Graovac, Maja; van der Lee, Robin; van Karnebeek, Clara D.; Meitinger, Thomas; Kraegeloh-Mann, Ingeborg; Vill, Katharina Share Save
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1 Lenz, Dominic; Smith, Desiree E. C.; Crushell, Ellen; Husain, Ralf A.; Salomons, Gajja S.; Alhaddad, Bader; Bernstein, Jonathan A.; Bianzano, Alyssa; Biskup, Saskia; Brennenstuhl, Heiko; Caldari, Dominique; Dikow, Nicola; Haack, Tobias B.; Hanson-Kahn, Andrea; Harting, Inga; Horn, Denise; Hughes, Joanne; Huijberts, Maya; Isidor, Bertrand; Kathemann, Simone; Kopajtich, Robert; Kotzaeridou, Urania; Kuery, Sebastien; Lainka, Elke; Laugwitz, Lucia; Lupski, James R.; Posey, Jennifer E.; Reynolds, Claire; Rosenfeld, Jill A.; Schroeter, Julian; Vansenne, Fleur; Wagner, Matias; Weiss, Claudia; Wolffenbuttel, Bruce H. R.; Wortmann, Saskia B.; Koelker, Stefan; Hoffmann, Georg F.; Prokisch, Holger; Mendes, Marisa, I; Staufner, Christian Share Save
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Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS Braunisch, Matthias Christoph; Riedhammer, Korbinian Maria; Herr, Pierre-Maurice; Draut, Sarah; Guenthner, Roman; Wagner, Matias; Weidenbusch, Marc; Lungu, Adrian; Alhaddad, Bader; Renders, Lutz; Strom, Tim M.; Heemann, Uwe; Meitinger, Thomas; Schmaderer, Christoph; Hoefele, Julia Share Save
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia Zech, Michael; Brunet, Theresa; Skorvanek, Matej; Blaschek, Astrid; Vill, Katharina; Hanker, Britta; Huning, Irina; Han, Vladimir; Dosekova, Petra; Gdovinova, Zuzana; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M.; Ruzicka, Evzen; Kamsteeg, Erik-Jan; van der Smagt, Jasper J.; Wagner, Matias; Jech, Robert; Winkelmann, Juliane Share Save
Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy Perrier, Stefanie; Gauquelin, Laurence; Fallet-Bianco, Catherine; Dishop, Megan K.; Michell-Robinson, Mackenzie A.; Tran, Luan T.; Guerrero, Kether; Darbelli, Lama; Srour, Myriam; Petrecca, Kevin; Renaud, Deborah L.; Saito, Michael; Cohen, Seth; Leiz, Steffen; Alhaddad, Bader; Haack, Tobias B.; Tejera-Martin, Ingrid; Monton, Fernando I.; Rodriguez-Espinosa, Norberto; Pohl, Daniela; Nageswaran, Savithri; Grefe, Annette; Glamuzina, Emma; Bernard, Genevieve Share Save
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M.; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A.; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E.; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S.; Anikster, Yair; Saltiel, Alan R.; Distelmaier, Felix Share Save
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