Friedhelm Hildebrandt (F Hildebrandt)

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 37

Top Venues

American journal of medical genetics. Part A

Nature communications

bioRxiv : the preprint server for biology

PloS one

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

Publications

Chen-Han Wilfred Wu, Yu-Ren Huang, Donald Bodner, Fredrick R Schumacher, Michelle Baum, Friedhelm Hildebrandt
The evolving landscape of monogenic nephrolithiasis and therapeutic innovations. Nature reviews. Urology (2024)
Rachael M Cox, Ophelia Papoulas, Shirlee Shril, Chanjae Lee, Tynan Gardner, Anna M Battenhouse, Muyoung Lee, Kevin Drew, Claire Darnell McWhite, David Yang, Janelle C Leggere, Dannie Durand, Friedhelm Hildebrandt, John B Wallingford, Edward M Marcotte
Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. bioRxiv : the preprint server for biology (2024)
Rachael M Cox, Ophelia Papoulas, Shirlee Shril, Chanjae Lee, Tynan Gardner, Anna M Battenhouse, Muyoung Lee, Kevin Drew, Claire Darnell McWhite, David Yang, Janelle C Leggere, Dannie Durand, Friedhelm Hildebrandt, John B Wallingford, Edward M Marcotte
Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. bioRxiv : the preprint server for biology (2024)
Florian Buerger, Lea M Merz, Ken Saida, Seyoung Yu, Daanya Salmanullah, Katharina Lemberg, Nils D Mertens, Bshara Mansour, Caroline M Kolvenbach, Kirollos Yousef, Selina Hölzel, Alina Braun, Gijs A C Franken, Kevin A Goncalves, Andrew Steinsapir, Nicole Endlich, Ronen Schneider, Shirlee Shril, Friedhelm Hildebrandt
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies. American journal of physiology. Renal physiology 326 (5) (2024)
Lilian R Hiltebeitel, Steve Seltzsam, Chunyan Wang, Ted Lee, Leah Bolsius, Mohamed Shalaby, Sherif El Desoky, Jameela A Kari, Shirlee Shril, Friedhelm Hildebrandt, Nina Mann
Genetic Contributions to Lower Urinary Tract Dysfunction. American journal of medical genetics. Part A (2024)
Rachael M Cox, Ophelia Papoulas, Shirlee Shril, Chanjae Lee, Tynan Gardner, Anna M Battenhouse, Muyoung Lee, Kevin Drew, Claire Darnell McWhite, David Yang, Janelle C Leggere, Dannie Durand, Friedhelm Hildebrandt, John B Wallingford, Edward M Marcotte
Ancient eukaryotic protein interactions illuminate modern genetic traits and disorders. bioRxiv : the preprint server for biology (2024)
Caroline M Kolvenbach, Aihua Zhang, Lea M Merz, Nils D Mertens, Bshara Mansour, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Dalia Pantel, Jing Chen, Amelie T van der Ven, Jibril O Bello, Shirlee Shril, Friedhelm Hildebrandt
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. American journal of medical genetics. Part A (2023)
Caroline M Kolvenbach, Aihua Zhang, Lea M Merz, Nils D Mertens, Bshara Mansour, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Dalia Pantel, Jing Chen, Amelie T van der Ven, Jibril O Bello, Shirlee Shril, Friedhelm Hildebrandt
A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. American journal of medical genetics. Part A (2023)
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y Lim, Nine V A M Knoers, Francesca Zanoni, Maddalena Marasà, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A E van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R Pollak, Ali G Gharavi, Fangming Lin, Ana Cristina Dos Santos Lopes, Ruth J F Loos, Eimear E Kenny, Michiel F Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Il Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew Gordon Sampson
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nature communications 14 (1) (2023)
Sophia Schneider, Luca Schierbaum, Wessel A C Burger, Steve Seltzsam, Chunyan Wang, Bixia Zheng, Chen-Han Wilfred Wu, Makiko Nakayama, Dervla M Connaughton, Nina Mann, Mohamed A Shalaby, Jameela A Kari, Sherif ElDesoky, Velibor Tasic, Loai A Eid, Shirlee Shril, David M Thal, Friedhelm Hildebrandt
Recessive CHRM5 variant as a potential cause of neurogenic bladder. American journal of medical genetics. Part A (2023)
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y Lim, Nine V A M Knoers, Francesca Zanoni, Maddalena Marasà, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A E van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R Pollak, Ali G Gharavi, Fangming Lin, Ana Cristina Dos Santos Lopes, Ruth J F Loos, Eimear E Kenny, Michiel F Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Il Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew Gordon Sampson
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nature communications 14 (1) (2023)
Yask Gupta, David J Friedman, Michelle T McNulty, Atlas Khan, Brandon M Lane, Chen Wang, Juntao Ke, Gina Jin, Benjamin Wooden, Andrea L Knob, Tze Y Lim, Gerald B Appel, Kinsie Huggins, Lili Liu, Adele Mitrotti, Megan C Stangl, Andrew Bomback, Nine V A M Knoers, Monica Bodria, Maddalena Marasà, Ning Shang, David J Cohen, Russell J Crew, William Morello, Pietro A Canetta, Jai Radhakrishnan, Jeremiah Martino, Qingxue Liu, Wendy K Chung, Angelica Espinoza, Yuan Luo, Wei-Qi Wei, QiPing Feng, Chunhua Weng, Yilu Fang, Iftikhar J Kullo, Mohammadreza Naderian, Nita Limdi, Marguerite R Irvin, Hemant Tiwari, Sumit Mohan, Maya Rao, Geoffrey K Dube, Ninad S Chaudhary, Orlando M Gutiérrez, Suzanne E Judd, Andrea N Edginton, Leslie A Lange, Ethan M Lange, Daniel L Bivona, Miguel Verbitsky, Cheryl A Winkler, Jeffrey B Kopp, Dominick Santoriello, Ibrahim Batal, Sérgio Veloso Brant Pinheiro, Eduardo Araújo Oliveira, Ana Cristina Dos Santos Lopes, Isabella Pisani, Enrico Fiaccadori, Fangming Lin, Loreto Gesualdo, Antonio Amoroso, Gian Marco Ghiggeri, Vivette D D'Agati, Riccardo Magistroni, Eimear E Kenny, Ruth J F Loos, Giovanni Montini, Friedhelm Hildebrandt, Dirk S Paul, Slavé Petrovski, David B Goldstein, Matthias Kretzler, Rasheed A Gbadegesin, Ali G Gharavi, Krzysztof Kiryluk, Matthew Gordon Sampson, Martin R Pollak, Simone Sanna-Cherchi
Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease. Nature communications 14 (1) (2023)
Alexandra Barry, Michelle T McNulty, Xiaoyuan Jia, Yask Gupta, Hanna Debiec, Yang Luo, China Nagano, Tomoko Horinouchi, Seulgi Jung, Manuela Colucci, Dina F Ahram, Adele Mitrotti, Aditi Sinha, Nynke Teeninga, Gina Jin, Shirlee Shril, Gianluca Caridi, Monica Bodria, Tze Y Lim, Nine V A M Knoers, Francesca Zanoni, Maddalena Marasà, Daniel Turudic, Mario Giordano, Loreto Gesualdo, Riccardo Magistroni, Isabella Pisani, Enrico Fiaccadori, Jana Reiterova, Silvio Maringhini, William Morello, Giovanni Montini, Patricia L Weng, Francesco Scolari, Marijan Saraga, Velibor Tasic, Domenica Santoro, Joanna A E van Wijk, Danko Milošević, Yosuke Kawai, Krzysztof Kiryluk, Martin R Pollak, Ali G Gharavi, Fangming Lin, Ana Cristina Dos Santos Lopes, Ruth J F Loos, Eimear E Kenny, Michiel F Schreuder, Aleksandra Zurowska, Claire Dossier, Gema Ariceta, Magdalena Drozynska-Duklas, Julien Hogan, Augustina Jankauskiene, Friedhelm Hildebrandt, Larisa Prikhodina, Kyuyoung Song, Arvind Bagga, Hae Il Cheong, Gian Marco Ghiggeri, Prayong Vachvanichsanong, Kandai Nozu, Dongwon Lee, Marina Vivarelli, Soumya Raychaudhuri, Katsushi Tokunaga, Simone Sanna-Cherchi, Pierre Ronco, Kazumoto Iijima, Matthew Gordon Sampson
Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome. Nature communications 14 (1) (2023)
Caroline M Kolvenbach, Shirlee Shril, Friedhelm Hildebrandt
The genetics and pathogenesis of CAKUT. Nature reviews. Nephrology (2023)
Dervla M Connaughton, Friedhelm Hildebrandt
Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. American journal of medical genetics. Part C, Seminars in medical genetics 190 (3) (2022)
Chunyan Wang, Steve Seltzsam, Bixia Zheng, Chen-Han Wilfred Wu, Camille Nicolas-Frank, Kirollos Yousef, Kit Sing Au, Nina Mann, Dalia Pantel, Sophia Schneider, Luca Schierbaum, Thomas M Kitzler, Dervla M Connaughton, Youying Mao, Rufeng Dai, Makiko Nakayama, Jameela A Kari, Sherif El Desoky, Mohammed Shalaby, Loai A Eid, Hazem S Awad, Velibor Tasic, Shrikant M Mane, Richard P Lifton, Michelle A Baum, Shirlee Shril, Carlos R Estrada, Friedhelm Hildebrandt
Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. American journal of medical genetics. Part A 188 (5) (2022)
Reema Habiby, Daniel G Bichet, Marie-Francoise Arthus, Dervia Connaughton, Shirlee Shril, Shrikant M Mane, Amar J Majmundar, Friedhelm Hildebrandt, Gary L Robertson
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner. The Journal of clinical endocrinology and metabolism 107 (6) (2022)
Pei-Ju Liu, Laura K Gunther, Michael E Garone, Chunling Zhang, Diana Perez, Jing Bi-Karchin, Christopher D Pellenz, Sharon E Chase, Maria F Presti, Eric L Plante, Claire E Martin, Svjetlana Lovric, Christopher M Yengo, Friedhelm Hildebrandt, Mira Krendel
Steroid-Resistant Nephrotic Syndrome-Associated <i>MYO1E</i> Mutations Have Differential Effects on Myosin 1e Localization, Dynamics, and Activity. Journal of the American Society of Nephrology : JASN 33 (11) (2022)
Amar J Majmundar, Florian Buerger, Thomas A Forbes, Verena Klämbt, Friedhelm Hildebrandt, Konstantin Deutsch, Thomas M Kitzler, Sara E Howden, Michelle Scurr, Ker Sin Tan, Mickaël Krzeminski, Eugen Widmeier, Daniela A Braun, Ethan Lai, Ihsan Ullah, Ali Amar, Amy Kolb, Kaitlyn Eddy, Chin Heng Chen, Daanya Salmanullah, Rufeng Dai, Makiko Nakayama, Isabel Ottlewski, Caroline M Kolvenbach, Ana C Onuchic-Whitford, Youying Mao, Nina Mann, Marwa M Nabhan, Seymour Rosen, Julie Deborah Forman-Kay, Neveen A Soliman, Andreas Heilos, Renate Kain, Christoph Aufricht, Shrikant M Mane, Richard P Lifton, Shirlee Shril, Melissa H Little, Friedhelm Hildebrandt
Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Science advances 7 (1) (2021)
Gabrielle T Lemire, Bixia Zheng, Grace U Ediae, Ruobing Zou, Priya T Bhola, Caitlin Chisholm, Joseph de Nanassy, Bryan Lo, Chunyan Wang, Shirlee Shril, Sherif El Desoky, Mohammed Shalaby, Jameela A Kari, Xueqi Wang, null null, Kristin D Kernohan, Kym M Boycott, Friedhelm Hildebrandt, Sarah L Sawyer
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasia. American journal of medical genetics. Part A 185 (10) (2021)
Bixia Zheng, Chunyan Wang, Steve Seltzsam, Sophia Schneider, Luca Schierbaum, Wilfred Wu, Rufeng Dai, Dervla M Connaughton, Makiko Nakayama, Nina Mann, Stuart B Bauer, Hazem S Awad, Loai A Eid, Velibor Tasic, Shirlee Shril, Friedhelm Hildebrandt
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. American journal of medical genetics. Part A (2021)
Caroline M Kolvenbach, Amelie T van der Ven, Franziska Kause, Shirlee Shril, Marcello Scala, Dervla M Connaughton, Nina Mann, Makiko Nakayama, Rufeng Dai, Thomas M Kitzler, Ronen Schneider, Luca Schierbaum, Sophia Schneider, Andrea Accogli, Annalaura Torella, Gianluca Piatelli, Vincenzo Nigro, Valeria Capra, Bernd Hoppe, Stefanie Märzheuser, Eberhard Schmiedeke, Heidi L Rehm, Shrikant Mane, Richard P Lifton, Gabriel C Dworschak, Alina C Hilger, Heiko Martin Reutter, Friedhelm Hildebrandt
Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. American journal of medical genetics. Part A 185 (12) (2021)
K W Martin, Kathryn Nicole Weaver, Khalid A Alhasan, Evren Gumus, Bonnie R Sullivan, Martin Zenker, Friedhelm Hildebrandt, Julie D Saba
MRI Spectrum of Brain Involvement in Sphingosine-1-Phosphate Lyase Insufficiency Syndrome. AJNR. American journal of neuroradiology 41 (10) (2020)
Chen-Han Wilfred Wu, Nina Mann, Makiko Nakayama, Dervla M Connaughton, Rufeng Dai, Caroline M Kolvenbach, Franziska Kause, Isabel Ottlewski, Chunyan Wang, Verena Klämbt, Steve Seltzsam, Ethan W Lai, Aravind Selvin, Prabha Senguttuva, Olaf Bodamer, Deborah R Stein, Sherif El Desoky, Jameela A Kari, Velibor Tasic, Stuart B Bauer, Shirlee Shril, Friedhelm Hildebrandt
Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genetics in medicine : official journal of the American College of Medical Genetics 22 (10) (2020)
Sumeda Nandadasa, Caroline M Kraft, Lauren W Wang, Anna O'Donnell, Rushabh Patel, Heon Yung Gee, Kay Grobe, Timothy C Cox, Friedhelm Hildebrandt, Suneel S Apte
Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis. Nature communications 10 (1) (2019)
Najim Lahrouchi, Aman George, Ilham Ratbi, Ronen Schneider, Siham C Elalaoui, Shahida Moosa, Sanita Bharti, Ruchi Sharma, Mones Abu-Asab, Felix Onojafe, Najlae Adadi, Elisabeth M Lodder, Fatima-Zahra Laarabi, Yassine Lamsyah, Hamza Elorch, Imane Chebbar, Alex V Postma, Vassilios Lougaris, Alessandro Plebani, Janine Altmueller, Henriette Kyrieleis, Vardiella Meiner, Helen McNeill, Kapil Bharti, Stanislas Lyonnet, Bernd Wollnik, Alexandra Henrion-Caude, Amina Berraho, Friedhelm Hildebrandt, Connie R Bezzina, Brian P Brooks, Abdelaziz Sefiani
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nature communications 10 (1) (2019)
Orna Staretz-Chacham, Rachel Shukrun, Ortal Barel, Ben Pode-Shakked, Oren Pleniceanu, Yair Anikster, Nechama Shalva, Carlos R Ferreira, Admit Ben-Haim Kadosh, Justin Richardson, Shrikant M Mane, Friedhelm Hildebrandt, Asaf Vivante
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome. American journal of medical genetics. Part A 179 (10) (2019)
Christelle Arrondel, Sophia Missoury, Rozemarijn Snoek, Julie Patat, Giulia Menara, Bruno Collinet, Dominique Liger, Dominique Durand, Olivier Gribouval, Olivia Boyer, Laurine Buscara, Gaëlle Martin, Eduardo Machuca, Fabien Nevo, Ewen Lescop, Daniela A Braun, Anne-Claire Boschat, Sylvia Sanquer, Ida Chiara Guerrera, Patrick Revy, Mélanie Parisot, Cécile Masson, Nathalie Boddaert, Marina Charbit, Stéphane Decramer, Robert Novo, Marie-Alice Macher, Bruno Ranchin, Justine Bacchetta, Audrey Laurent, Sophie Collardeau Frachon, Albertien M van Eerde, Friedhelm Hildebrandt, Daniella Magen, Corinne Antignac, Herman van Tilbeurgh, Geraldine Mollet
Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. Nature communications 10 (1) (2019)
Ruxandra Bachmann-Gagescu, Jennifer C Dempsey, Sara Bulgheroni, Maida L Chen, Stefano D'Arrigo, Ian A Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y Kroes, Stephen H Mack, Sara Nuovo, Melissa A Parisi, Joseph Snow, Angela C Summers, Jordan M Symons, Wadih M Zein, Eugen Boltshauser, John A Sayer, Meral Gunay-Aygun, Enza Maria Valente, Daniel A Doherty
Healthcare recommendations for Joubert syndrome. American journal of medical genetics. Part A 182 (1) (2019)
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew Gordon Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y Zhang, Young-Ji Na, Tze Y Lim, Dina Ahram, Patricia L Weng, Erin L Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Margherita Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G Dobson, John M Darlow, Prem Puri, David E Barton, Susan L Furth, Bradley A Warady, Zoran Gucev, Vladimir J Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M Rodas, Josep M Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S Wong, Fangming Lin, Débora M Miranda, Eduardo A Oliveira, Ana Cristina Simões-E-Silva, Jonathan M Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E Papaioannou, Cathy Lee Mendelsohn, Ali G Gharavi, Simone Sanna-Cherchi
The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics 51 (1) (2018)
Kyeong Jee Cho, Shin Hye Noh, Soo Min Han, Won-Il Choi, Hye-Youn Kim, Seyoung Yu, Joon Suk Lee, John Hoon Rim, Min Goo Lee, Friedhelm Hildebrandt, Heon Yung Gee
ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms. PLoS genetics 14 (3) (2018)
Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Ronen Schneider, Charlotte A Hoogstraten, Jeremy F P Ullmann, David Schapiro, Amar J Majmundar, Amy Kolb, Kaitlyn Eddy, Shirlee Shril, Daniela A Braun, Annapurna Poduri, Friedhelm Hildebrandt
Acute multi-sgRNA knockdown of KEOPS complex genes reproduces the microcephaly phenotype of the stable knockout zebrafish model. PloS one 13 (1) (2018)
Daniela A Braun, Shirlee Shril, Aditi Sinha, Ronen Schneider, Weizhen Tan, Shazia Ashraf, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ankana Daga, Jillian K Warejko, Makiko Nakayama, David Schapiro, Jing Chen, Merlin Airik, Jia Rao, Johanna Magdalena Schmidt, Charlotte A Hoogstraten, Hannah Hugo, Jitendra Meena, Monkol Lek, Kristen M Laricchia, Arvind Bagga, Friedhelm Hildebrandt
Mutations in WDR4 as a new cause of Galloway-Mowat syndrome. American journal of medical genetics. Part A 176 (11) (2018)
Elisa Molinari, Eva Decker, Holly Mabillard, James Tellez, Shalabh Srivastava, Shreya Raman, Katrina Wood, Caroline Kempf, Sumaya Alkanderi, Simon A Ramsbottom, Colin G Miles, Colin A Johnson, Friedhelm Hildebrandt, Carsten Bergmann, John Andrew Sayer
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants. European journal of human genetics : EJHG 26 (12) (2018)
Amelie T van der Ven, Birgit Kobbe, Stefan Kohl, Shirlee Shril, Hans-Martin Pogoda, Thomas Imhof, Hadas Ityel, Asaf Vivante, Jing Chen, Daw-Yang Hwang, Dervla M Connaughton, Nina Mann, Eugen Widmeier, Mary Taglienti, Johanna Magdalena Schmidt, Makiko Nakayama, Prabha Senguttuvan, Selvin Kumar, Velibor Tasic, Elijah O Kehinde, Shrikant M Mane, Richard P Lifton, Neveen Soliman, Weining Lu, Stuart B Bauer, Matthias Hammerschmidt, Raimund Wagener, Friedhelm Hildebrandt
A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PloS one 13 (1) (2018)
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature communications 9 (1) (2018)
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytuła, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly. Nature genetics 49 (10) (2017)

Friedhelm Hildebrandt.css-eqlu8i{font-size:small;padding-left:4px;} (F Hildebrandt)

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Friedhelm Hildebrandt (F Hildebrandt)