Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability
Failler, Marion, Gee, Heon Yung, Krug, Pauline, Joo, Kwangsic, Halbritter, Jan, Belkacem, Lilya, Filhol, Emilie, Porath, Jonathan D., Braun, Daniela A., Schueler, Markus, Frigo, Amandine, Alibeu, Olivier, Masson, Cécile, Brochard, Karine, Hurault de Ligny, Bruno, Novo, Robert, Pietrement, Christine, Kayserili, Hulya, Salomon, Rémi, Gubler, Marie-Claire, Otto, Edgar A., Antignac, Corinne, Kim, Joon, Benmerah, Alexandre, Hildebrandt, Friedhelm, Saunier, Sophie
Published in American journal of human genetics (05.06.2014)
Published in American journal of human genetics (05.06.2014)
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Journal Article
Self-assembling hybrid diamond-biological quantum devices
Albrecht, A, Koplovitz, G, Retzker, A, Jelezko, F, Yochelis, S, Porath, D, Nevo, Y, Shoseyov, O, Paltiel, Y, B Plenio, M
Published in New journal of physics (04.09.2014)
Published in New journal of physics (04.09.2014)
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Journal Article
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler, Markus, Braun, Daniela A., Chandrasekar, Gayathri, Gee, Heon Yung, Klasson, Timothy D., Halbritter, Jan, Bieder, Andrea, Porath, Jonathan D., Airik, Rannar, Zhou, Weibin, LoTurco, Joseph J., Che, Alicia, Otto, Edgar A., Böckenhauer, Detlef, Sebire, Neil J., Honzik, Tomas, Harris, Peter C., Koon, Sarah J., Gunay-Aygun, Meral, Saunier, Sophie, Zerres, Klaus, Bruechle, Nadina Ortiz, Drenth, Joost P.H., Pelletier, Laurence, Tapia-Páez, Isabel, Lifton, Richard P., Giles, Rachel H., Kere, Juha, Hildebrandt, Friedhelm
Published in American journal of human genetics (08.01.2015)
Published in American journal of human genetics (08.01.2015)
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Journal Article
A FANCD2/FANCI-Associated Nuclease 1-Knockout Model Develops Karyomegalic Interstitial Nephritis
Airik, Rannar, Schueler, Markus, Airik, Merlin, Cho, Jang, Porath, Jonathan D, Mukherjee, Elina, Sims-Lucas, Sunder, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.12.2016)
Published in Journal of the American Society of Nephrology (01.12.2016)
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Journal Article
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Roberson, Elle C, Dowdle, William E, Ozanturk, Aysegul, Garcia-Gonzalo, Francesc R, Li, Chunmei, Halbritter, Jan, Elkhartoufi, Nadia, Porath, Jonathan D, Cope, Heidi, Ashley-Koch, Allison, Gregory, Simon, Thomas, Sophie, Sayer, John A, Saunier, Sophie, Otto, Edgar A, Katsanis, Nicholas, Davis, Erica E, Attié-Bitach, Tania, Hildebrandt, Friedhelm, Leroux, Michel R, Reiter, Jeremy F
Published in The Journal of cell biology (13.04.2015)
Published in The Journal of cell biology (13.04.2015)
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Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease
Lewis, Wesley R, Malarkey, Erik B, Tritschler, Douglas, Bower, Raqual, Pasek, Raymond C, Porath, Jonathan D, Birket, Susan E, Saunier, Sophie, Antignac, Corinne, Knowles, Michael R, Leigh, Margaret W, Zariwala, Maimoona A, Challa, Anil K, Kesterson, Robert A, Rowe, Steven M, Drummond, Iain A, Parant, John M, Hildebrandt, Friedhelm, Porter, Mary E, Yoder, Bradley K, Berbari, Nicolas F
Published in PLoS genetics (29.07.2016)
Published in PLoS genetics (29.07.2016)
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Journal Article
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
Knowles, Michael R., Ostrowski, Lawrence E., Loges, Niki T., Hurd, Toby, Leigh, Margaret W., Huang, Lu, Wolf, Whitney E., Carson, Johnny L., Hazucha, Milan J., Yin, Weining, Davis, Stephanie D., Dell, Sharon D., Ferkol, Thomas W., Sagel, Scott D., Olivier, Kenneth N., Jahnke, Charlotte, Olbrich, Heike, Werner, Claudius, Raidt, Johanna, Wallmeier, Julia, Pennekamp, Petra, Dougherty, Gerard W., Hjeij, Rim, Gee, Heon Yung, Otto, Edgar A., Halbritter, Jan, Chaki, Moumita, Diaz, Katrina A., Braun, Daniela A., Porath, Jonathan D., Schueler, Markus, Baktai, György, Griese, Matthias, Turner, Emily H., Lewis, Alexandra P., Bamshad, Michael J., Nickerson, Deborah A., Hildebrandt, Friedhelm, Shendure, Jay, Omran, Heymut, Zariwala, Maimoona A.
Published in American journal of human genetics (03.10.2013)
Published in American journal of human genetics (03.10.2013)
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Journal Article
Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies
Schueler, Markus, Halbritter, Jan, Phelps, Ian G, Braun, Daniela A, Otto, Edgar A, Porath, Jonathan D, Gee, Heon Yung, Shendure, Jay, O'Roak, Brian J, Lawson, Jennifer A, Nabhan, Marwa M, Soliman, Neveen A, Doherty, Dan, Hildebrandt, Friedhelm
Published in Journal of medical genetics (01.03.2016)
Published in Journal of medical genetics (01.03.2016)
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Journal Article
Crystallographic orientation errors in mechanical exfoliation
Kolumbus, Y, Zalic, A, Fardian-Melamed, N, Barkay, Z, Rotem, D, Porath, D, Steinberg, H
Published in Journal of physics. Condensed matter (28.11.2018)
Published in Journal of physics. Condensed matter (28.11.2018)
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Journal Article
SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling
Airik, Rannar, Schueler, Markus, Airik, Merlin, Cho, Jang, Ulanowicz, Kelsey A, Porath, Jonathan D, Hurd, Toby W, Bekker-Jensen, Simon, Schrøder, Jacob M, Andersen, Jens S, Hildebrandt, Friedhelm
Published in PloS one (25.05.2016)
Published in PloS one (25.05.2016)
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Journal Article
Long, Monomolecular Guanine-Based Nanowires
Kotlyar, A. B., Borovok, N., Molotsky, T., Cohen, H., Shapir, E., Porath, D.
Published in Advanced materials (Weinheim) (04.08.2005)
Published in Advanced materials (Weinheim) (04.08.2005)
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Targeting premeal anxiety in eating disordered clients and normal controls: A preliminary investigation into the use of mindful eating vs. distraction during food exposure
Marek, Ryan J., Ben-Porath, Denise D., Federici, Anita, Wisniewski, Lucene, Warren, Mark
Published in The International journal of eating disorders (01.09.2013)
Published in The International journal of eating disorders (01.09.2013)
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Journal Article
Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis
Halbritter, Jan, Baum, Michelle, Hynes, Ann Marie, Rice, Sarah J, Thwaites, David T, Gucev, Zoran S, Fisher, Brittany, Spaneas, Leslie, Porath, Jonathan D, Braun, Daniela A, Wassner, Ari J, Nelson, Caleb P, Tasic, Velibor, Sayer, John A, Hildebrandt, Friedhelm
Published in Journal of the American Society of Nephrology (01.03.2015)
Published in Journal of the American Society of Nephrology (01.03.2015)
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Accounting for distress in bank mergers
Koetter, M., Bos, J.W.B., Heid, F., Kolari, J.W., Kool, C.J.M., Porath, D.
Published in Journal of banking & finance (01.10.2007)
Published in Journal of banking & finance (01.10.2007)
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Journal Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy
Halbritter, Jan, Porath, Jonathan D., Diaz, Katrina A., Braun, Daniela A., Kohl, Stefan, Chaki, Moumita, Allen, Susan J., Soliman, Neveen A., Hildebrandt, Friedhelm, Otto, Edgar A.
Published in Human genetics (01.08.2013)
Published in Human genetics (01.08.2013)
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Journal Article
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity
Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung, Porath, Jonathan D., Lawson, Jennifer A., Airik, Rannar, Shril, Shirlee, Allen, Susan J., Stein, Deborah, Al Kindy, Adila, Beck, Bodo B., Cengiz, Nurcan, Moorani, Khemchand N., Ozaltin, Fatih, Hashmi, Seema, Sayer, John A., Bockenhauer, Detlef, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P., Hildebrandt, Friedhelm
Published in Kidney international (01.02.2016)
Published in Kidney international (01.02.2016)
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