Julia Hoefele (J Hoefele)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 19

Top Venues

European journal of human genetics : EJHG

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

This page only lists publications with an associated author ORCID identifier.

Publications

Korbinian Maria Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Natasa Stajic, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Milosevski-Lomic, Roman Günthner, Matthias C Braunisch, Jasmina Ćomić, Julia Hoefele
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? Clinical genetics 105 (4) (2024)
Korbinian Maria Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Natasa Stajic, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Milosevski-Lomic, Roman Günthner, Matthias C Braunisch, Jasmina Ćomić, Julia Hoefele
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? Clinical genetics 105 (4) (2024)
Julia Hoefele, Julian Eble, Tobias Hermle, Matthias Wuttke, Ulla T Schultheiß
Extrarenal manifestations in inherited kidney diseases. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2024)
Korbinian Maria Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Natasa Stajic, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Milosevski-Lomic, Roman Günthner, Matthias C Braunisch, Jasmina Ćomić, Julia Hoefele
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? Clinical genetics (2024)
Korbinian Maria Riedhammer, Hannes Simmendinger, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Natasa Stajic, Riccardo Berutti, Marc Weidenbusch, Ludwig Patzer, Adrian Lungu, Gordana Milosevski-Lomic, Roman Günthner, Matthias C Braunisch, Jasmina Ćomić, Julia Hoefele
Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? Clinical genetics 105 (4) (2024)
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen J Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S Lipska-Ziętkiewicz
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. European journal of human genetics : EJHG (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Korbinian Maria Riedhammer, Jasmina Ćomić, Velibor Tasic, Jovana Putnik, Nora Abazi-Emini, Aleksandra Paripovic, Natasa Stajic, Thomas Meitinger, Valbona Nushi-Stavileci, Riccardo Berutti, Matthias C Braunisch, Julia Hoefele
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience. European journal of human genetics : EJHG (2023)
Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Shariff, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecelia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. medRxiv : the preprint server for health sciences (2023)
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeffery H Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
Correction: The 2019 and 2021 International workshops on Alport syndrome. European journal of human genetics : EJHG (2023)
Hendrik Vossschulte, Konrad Mohnike, Klaus Mohnike, Katharina Warncke, Ayse Akcay, Martin Zenker, Ilse Wieland, Ina Schanze, Julia Hoefele, Christine Förster, Winfried Barthlen, Kim Stahlberg, Susann Empting
Correlation of PET-MRI, Pathology, LOH, and Surgical Success in a Case of CHI With Atypical Large Pancreatic Focus. Journal of the Endocrine Society 6 (6) (2022)
Jan Boeckhaus, Julia Hoefele, Korbinian Maria Riedhammer, Mato Nagel, Bodo B Beck, Mira Choi, Maik Gollasch, Carsten Bergmann, Joseph E Sonntag, Victoria Troesch, Johanna Stock, Oliver Gross
Lifelong effect of therapy in young patients with the COL4A5 Alport missense variant p.(Gly624Asp): a prospective cohort study. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 37 (12) (2022)
Sergio Daga, Jie Ding, Constantinos Deltas, Judy Savige, Beata Stefania Lipska-Ziętkiewicz, Julia Hoefele, Frances Flinter, Daniel P Gale, Marina Aksenova, Hirofumi Kai, Laura Perin, Moumita Barua, Roser Torra, Jeffery H Miner, Laura Massella, Danica Galešić Ljubanović, Rachel Lennon, Andrè B Weinstock, Bertrand Knebelmann, Agne Cerkauskaite, Susie Gear, Oliver Gross, A Neil Turner, Margherita Baldassarri, Anna Maria Pinto, Alessandra Renieri
The 2019 and 2021 International Workshops on Alport Syndrome. European journal of human genetics : EJHG 30 (5) (2022)
Katinka Breuer, Korbinian Maria Riedhammer, Nicole Müller, Birthe Schaidinger, Gregor Dombrowsky, Sven Dittrich, Susanne Zeidler, Ulrike M M Bauer, Dominik Sebastian Westphal, Thomas Meitinger, Tikam Chand Dakal, Marc Phillip Hitz, Johannes Breuer, Heiko Martin Reutter, Alina C Hilger, Julia Hoefele
Exome sequencing in individuals with cardiovascular laterality defects identifies potential candidate genes. European journal of human genetics : EJHG 30 (8) (2022)
César Augusto Pinheiro Ferreira Alves, O Sherbini, F D'Arco, Dora Batia Dyne Steel, Manju A Kurian, F C Radio, Giovanbattista Giovanni Battista Ferrero, Diana Carli, Tartaglia Marco, Tuğçe B Balcı, N N Powell-Hamilton, S A Schrier Vergano, H Reutter, Julia Hoefele, R Günthner, Elizabeth R Roeder, R O Littlejohn, Davor Lessel, Sabine Peters, C Kentros, Kwame Anyane-Yeboa, Claudia B Catarino, Saadet Mercimek-Mahmutoglu, J Denecke, Michael J Lyons, Florentine Radelfahr, Elizabeth Joyce Bhoj, Laura Bryant, Adeline Vanderver
Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. AJNR. American journal of neuroradiology 43 (7) (2022)
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith Al-Rabadi, Kathleen J Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S Lipska-Ziętkiewicz
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria. European journal of human genetics : EJHG 29 (8) (2021)
Matthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, Sarah Draut, Roman Günthner, Matias Wagner, Marc Weidenbusch, Adrian Lungu, Bader Alhaddad, Lutz Renders, Tim M Strom, Uwe Heemann, Thomas Meitinger, Christoph Schmaderer, Julia Hoefele
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS. European journal of human genetics : EJHG 29 (2) (2020)
Jan Boeckhaus, Julia Hoefele, Korbinian M Riedhammer, Burkhard Tönshoff, Rasmus Ehren, Lars Pape, Kay Latta, Henry Fehrenbach, Baerbel Lange-Sperandio, Matthias Kettwig, Peter Hoyer, Hagen Staude, Martin Konrad, Ulrike John, Jutta Gellermann, Bernd Hoppe, Matthias Galiano, Michaela Gessner, Michael Pohl, Carsten Bergmann, Tim Friede, Oliver Gross, null null
Precise variant interpretation, phenotype ascertainment, and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial. Clinical genetics 99 (1) (2020)

Julia Hoefele.css-eqlu8i{font-size:small;padding-left:4px;} (J Hoefele)

Publication Activity (10 Years)

Top Topics

Top Venues

Julia Hoefele (J Hoefele)