De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes
Scala, Marcello, Drouot, Nathalie, MacLennan, Suzanna C., Wessels, Marja W., Krygier, Magdalena, Pavinato, Lisa, Telegrafi, Aida, Man, Stella A., Slegtenhorst, Marjon, Iacomino, Michele, Madia, Francesca, Scudieri, Paolo, Uva, Paolo, Giacomini, Thea, Nobile, Giulia, Mancardi, Maria Margherita, Balagura, Ganna, Galloni, Giovanni Battista, Verrotti, Alberto, Umair, Muhammad, Khan, Amjad, Liebelt, Jan, Schmidts, Miriam, Langer, Thorsten, Brusco, Alfredo, Lipska‐Ziętkiewicz, Beata S., Saris, Jasper J., Charlet‐Berguerand, Nicolas, Zara, Federico, Striano, Pasquale, Piton, Amélie
Published in Human mutation (01.09.2022)
Published in Human mutation (01.09.2022)
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Journal Article
NUP Nephropathy: When Defective Pores Cause Leaky Glomeruli
Lipska-Ziętkiewicz, Beata S., Schaefer, Franz
Published in American journal of kidney diseases (01.06.2019)
Published in American journal of kidney diseases (01.06.2019)
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Journal Article
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia
Pastorczak, Agata, Hogendorf, Anna, Urbanska, Zuzanna, Budzynska, Edyta, Jesionek‐Kupnicka, Dorota, Gach, Agnieszka, Hawula, Wanda, Smigiel, Robert, Skiba, Pawel, Sasiadek, Maria, Lejman, Monika, Constatinou, Maria, Lipska‐Ziętkiewicz, Beata S., Mlynarski, Wojciech
Published in Genes chromosomes & cancer (01.02.2021)
Published in Genes chromosomes & cancer (01.02.2021)
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Journal Article
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group
Lipska-Ziętkiewicz, Beata Stefania, Ozaltin, Fatih, Hölttä, Tuula, Bockenhauer, Detlef, Bérody, Sandra, Levtchenko, Elena, Vivarelli, Marina, Webb, Hazel, Haffner, Dieter, Schaefer, Franz, Boyer, Olivia
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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Journal Article
Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report
Sajewicz-Radtke, Urszula, Łada-Maśko, Ariadna, Lipowska, Małgorzata, Radtke, Bartosz M, Lipska-Ziętkiewicz, Beata S, Krempla-Patron, Katarzyna
Published in Journal of applied genetics (10.02.2024)
Published in Journal of applied genetics (10.02.2024)
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Journal Article
Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3
Kutkowska-Kaźmierczak, Anna, Boczar, Maria, Kalka, Ewa, Castañeda, Jennifer, Klapecki, Jakub, Pietrzyk, Aleksandra, Barczyk, Artur, Malinowska, Olga, Landowska, Aleksandra, Gambin, Tomasz, Kowalczyk, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Smyk, Marta, Dawidziuk, Mateusz, Niepokój, Katarzyna, Paczkowska, Magdalena, Szyld, Paweł, Lipska-Ziętkiewicz, Beata, Szczałuba, Krzysztof, Kostyk, Ewa, Runge, Agata, Rutkowska, Karolina, Płoski, Rafał, Nowakowska, Beata, Bal, Jerzy, Obersztyn, Ewa, Gos, Monika
Published in Genes (17.08.2021)
Published in Genes (17.08.2021)
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Journal Article
Glomerulopathy in patients with distal duplication of chromosome 6p
Jankauskienė, Augustina, Koczkowska, Magdalena, Bjerre, Anna, Bernaciak, Joanna, Schaefer, Franz, Lipska-Ziętkiewicz, Beata S
Published in BMC nephrology (21.03.2016)
Published in BMC nephrology (21.03.2016)
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Journal Article
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice
Knoers, Nine, Antignac, Corinne, Bergmann, Carsten, Dahan, Karin, Giglio, Sabrina, Heidet, Laurence, Lipska-Ziętkiewicz, Beata S, Noris, Marina, Remuzzi, Giuseppe, Vargas-Poussou, Rosa, Schaefer, Franz
Published in Nephrology, dialysis, transplantation (25.01.2022)
Published in Nephrology, dialysis, transplantation (25.01.2022)
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Journal Article
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression
Trautmann, Agnes, Seide, Svenja, Lipska-Ziętkiewicz, Beata S., Ozaltin, Fatih, Szczepanska, Maria, Azocar, Marta, Jankauskiene, Augustina, Zurowska, Alexandra, Caliskan, Salim, Saeed, Bassam, Morello, William, Emma, Francesco, Litwin, Mieczyslaw, Tsygin, Alexey, Fomina, Svitlana, Wasilewska, Anna, Melk, Anette, Benetti, Elisa, Gellermann, Jutta, Stajic, Natasa, Tkaczyk, Marcin, Baiko, Sergey, Prikhodina, Larisa, Csaicsich, Dagmar, Medynska, Anna, Krisam, Regina, Breitschwerdt, Heike, Schaefer, Franz
Published in Pediatric nephrology (Berlin, West) (01.05.2023)
Published in Pediatric nephrology (Berlin, West) (01.05.2023)
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Journal Article
The 2019 and 2021 International Workshops on Alport Syndrome
Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra
Published in European journal of human genetics : EJHG (01.05.2022)
Published in European journal of human genetics : EJHG (01.05.2022)
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Journal Article
Correction: The 2019 and 2021 International workshops on Alport syndrome
Daga, Sergio, Ding, Jie, Deltas, Constantinos, Savige, Judy, Lipska-Ziętkiewicz, Beata S, Hoefele, Julia, Flinter, Frances, Gale, Daniel P, Aksenova, Marina, Kai, Hirofumi, Perin, Laura, Barua, Moumita, Torra, Roser, Miner, Jeff H, Massella, Laura, Ljubanović, Danica Galešić, Lennon, Rachel, Weinstock, Andrè B, Knebelmann, Bertrand, Cerkauskaite, Agne, Gear, Susie, Gross, Oliver, Turner, A Neil, Baldassarri, Margherita, Pinto, Anna Maria, Renieri, Alessandra
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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Journal Article
ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS
Korkmaz, Emine, Lipska-Ziętkiewicz, Beata S, Boyer, Olivia, Gribouval, Olivier, Fourrage, Cecile, Tabatabaei, Mansoureh, Schnaidt, Sven, Gucer, Safak, Kaymaz, Figen, Arici, Mustafa, Dinckan, Ayhan, Mir, Sevgi, Bayazit, Aysun K, Emre, Sevinc, Balat, Ayse, Rees, Lesley, Shroff, Rukshana, Bergmann, Carsten, Mourani, Chebl, Antignac, Corinne, Ozaltin, Fatih, Schaefer, Franz
Published in Journal of the American Society of Nephrology (01.01.2016)
Published in Journal of the American Society of Nephrology (01.01.2016)
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Journal Article
The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems
Daca-Roszak, Patrycja, Fiedorowicz, Joanna, Jankowski, Maciej, Ciesielka, Marzanna, Teresiński, Grzegorz, Lipska-Zietkiewicz, Beata, Zietkiewicz, Ewa, Grzybowski, Tomasz, Skonieczna, Katarzyna
Published in Journal of applied genetics (01.09.2024)
Published in Journal of applied genetics (01.09.2024)
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Journal Article
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Savige, Judy, Storey, Helen, Watson, Elizabeth, Hertz, Jens Michael, Deltas, Constantinos, Renieri, Alessandra, Mari, Francesca, Hilbert, Pascale, Plevova, Pavlina, Byers, Peter, Cerkauskaite, Agne, Gregory, Martin, Cerkauskiene, Rimante, Ljubanovic, Danica Galesic, Becherucci, Francesca, Errichiello, Carmela, Massella, Laura, Aiello, Valeria, Lennon, Rachel, Hopkinson, Louise, Koziell, Ania, Lungu, Adrian, Rothe, Hansjorg Martin, Hoefele, Julia, Zacchia, Miriam, Martic, Tamara Nikuseva, Gupta, Asheeta, van Eerde, Albertien, Gear, Susie, Landini, Samuela, Palazzo, Viviana, Al-Rabadi, Laith, Claes, Kathleen, Corveleyn, Anniek, Van Hoof, Evelien, van Geel, Micheel, Williams, Maggie, Ashton, Emma, Belge, Hendica, Ars, Elisabeth, Bierzynska, Agnieszka, Gangemi, Concetta, Lipska-Ziętkiewicz, Beata S
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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Journal Article
Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife
Żurowska, Aleksandra M., Bielska, Olga, Daca-Roszak, Patrycja, Jankowski, Maciej, Szczepańska, Maria, Roszkowska-Bjanid, Dagmara, Kuźma-Mroczkowska, Elżbieta, Pańczyk-Tomaszewska, Małgorzata, Moczulska, Anna, Drożdż, Dorota, Hadjipanagi, Despina, Deltas, Constantinos, Ostalska-Nowicka, Danuta, Rabiega, Alina, Taraszkiewicz, Janina, Taranta-Janusz, Katarzyna, Wieczorkiewicz-Plaza, Anna, Jobs, Katarzyna, Mews, Judyta, Musiał, Kinga, Jakubowska, Anna, Nosek, Hanna, Jander, Anna E., Koutsofti, Constantina, Stanisławska-Sachadyn, Anna, Kuleszo, Dominka, Ziętkiewicz, Ewa, Lipska-Ziętkiewicz, Beata S.
Published in Kidney international (01.06.2021)
Published in Kidney international (01.06.2021)
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Journal Article
Correction to: The effect of library preparation protocol on the efficiency of heteroplasmy detection in mitochondrial DNA using two massively parallel sequencing Illumina systems
Daca‑Roszak, Patrycja, Fiedorowicz, Joanna, Jankowski, Maciej, Ciesielka, Marzanna, Teresiński, Grzegorz, Lipska-Ziętkiewicz, Beata, Ziętkiewicz, Ewa, Grzybowski, Tomasz, Skonieczna, Katarzyna
Published in Journal of applied genetics (01.09.2024)
Published in Journal of applied genetics (01.09.2024)
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Journal Article
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia
Lipska-Ziętkiewicz, Beata S, Gellermann, Jutta, Boyer, Olivia, Gribouval, Olivier, Ziętkiewicz, Szymon, Kari, Jameela A, Shalaby, Mohamed A, Ozaltin, Fatih, Dusek, Jiri, Melk, Anette, Bayazit, Aysun K, Massella, Laura, Hyla-Klekot, Lidia, Habbig, Sandra, Godron, Astrid, Szczepańska, Maria, Bieniaś, Beata, Drożdż, Dorota, Odeh, Rasha, Jarmużek, Wioletta, Zachwieja, Katarzyna, Trautmann, Agnes, Antignac, Corinne, Schaefer, Franz
Published in PloS one (10.08.2017)
Published in PloS one (10.08.2017)
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Journal Article
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome
Gibson, Joel T, Huang, Mary, Shenelli Croos Dabrera, Marina, Shukla, Krushnam, Rothe, Hansjörg, Hilbert, Pascale, Deltas, Constantinos, Storey, Helen, Lipska-Ziętkiewicz, Beata S, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Gale, Daniel P, Cerkauskaite, Agne, Savige, Judy
Published in Scientific reports (17.02.2022)
Published in Scientific reports (17.02.2022)
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