Homozygosity Mapping on a Single Patient—Identification of Homozygous Regions of Recent Common Ancestry by Using Population Data

by Zhang, Lu, Yang, Wanling, Ying, Dingge, Cherny, Stacey S, Hildebrandt, Friedhelm, Sham, Pak Chung, Lau, Yu Lung
Published 2011

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency☆

by Doimo, Mara, Trevisson, Eva, Airik, Rannar, Bergdoll, Marc, Santos-Ocaña, Carlos, Hildebrandt, Friedhelm, Navas, Placido, Pierrel, Fabien, Salviati, Leonardo
Published 2014

SDCCAG8 Interacts with RAB Effector Proteins RABEP2 and ERC1 and Is Required for Hedgehog Signaling

by 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 2016

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract

by Hwang, Daw-Yang, Dworschak, Gabriel C., Kohl, Stefan, Saisawat, Pawaree, Vivante, Asaf, Hilger, Alina C., Reutter, Heiko M., Soliman, Neveen A., Bogdanovic, Radovan, Kehinde, Elijah O., Tasic, Velibor, Hildebrandt, Friedhelm
Published 2014

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

by Garcia-Gonzalo, Francesc R., Corbit, Kevin C., Sirerol-Piquer, María Salomé, Ramaswami, Gokul, Otto, Edgar A., Noriega, Thomas R., Seol, Allen D., Robinson, Jon F., Bennett, Christopher L., Josifova, Dragana J., García-Verdugo, José Manuel, Katsanis, Nicholas, Hildebrandt, Friedhelm, Reiter, Jeremy F.
Published 2011

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease

by 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 2016

Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity

by 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 2016

Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

by Braun, Daniela A., Sadowski, Carolin E., Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A., Pabst, Werner L., Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A., Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J., Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P., Antonin, Wolfram, Hildebrandt, Friedhelm
Published 2016

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype

by Perrault, Isabelle, Halbritter, Jan, Porath, Jonathan D, Gérard, Xavier, Braun, Daniela A, Gee, Heon Yung, Fathy, Hanan M, Saunier, Sophie, Cormier-Daire, Valérie, Thomas, Sophie, Attié-Bitach, Tania, Boddaert, Nathalie, Taschner, Michael, Schueler, Markus, Lorentzen, Esben, Lifton, Richard P, Lawson, Jennifer A, Garfa-Traore, Meriem, Otto, Edgar A, Bastin, Philippe, Caillaud, Catherine, Kaplan, Josseline, Rozet, Jean-Michel, Hildebrandt, Friedhelm
Published 2015

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone

by 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 2015

Nephronophthisis-Associated CEP164 Regulates Cell Cycle Progression, Apoptosis and Epithelial-to-Mesenchymal Transition

by Slaats, Gisela G., Ghosh, Amiya K., Falke, Lucas L., Le Corre, Stéphanie, Shaltiel, Indra A., van de Hoek, Glenn, Klasson, Timothy D., Stokman, Marijn F., Logister, Ive, Verhaar, Marianne C., Goldschmeding, Roel, Nguyen, Tri Q., Drummond, Iain A., Hildebrandt, Friedhelm, Giles, Rachel H.
Published 2014

CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

by Lee, Ji Eun, Silhavy, Jennifer L., Zaki, Maha S., Schroth, Jana, Bielas, Stephanie L., Marsh, Sarah E., Olvera, Jesus, Brancati, Francesco, Iannicelli, Miriam, Ikegami, Koji, Schlossman, Andrew M., Merriman, Barry, Attié-Bitach, Tania, Logan, Clare V., Glass, Ian A., Cluckey, Andrew, Louie, Carrie M., Lee, Jeong Ho, Raynes, Hilary R., Rapin, Isabelle, Castroviejo, Ignacio P., Setou, Mitsutoshi, Barbot, Clara, Boltshauser, Eugen, Nelson, Stanley F., Hildebrandt, Friedhelm, Johnson, Colin A., Doherty, Daniel A., Valente, Enza Maria, Gleeson, Joseph G.
Published 2012

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

by Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.
Published 2015

The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery

by Toriyama, Michinori, Lee, Chanjae, Taylor, S. Paige, Duran, Ivan, Cohn, Daniel H., Bruel, Ange-Line, Tabler, Jacqueline M., Drew, Kevin, Kelley, Marcus R., Kim, Sukyoung, Park, Tae Joo, Braun, Daniella, Pierquin, Ghislaine, Biver, Armand, Wagner, Kerstin, Malfroot, Anne, Panigrahi, Inusha, Franco, Brunella, Al-lami, Hadeel Adel, Yeung, Yvonne, Choi, Yeon Ja, Duffourd, Yannis, Faivre, Laurence, Rivière, Jean-Baptiste, Chen, Jiang, Liu, Karen J., Marcotte, Edward M., Hildebrandt, Friedhelm, Thauvin-Robinet, Christel, Krakow, Deborah, Jackson, Peter K., Wallingford, John B.
Published 2016

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

by Bizet, Albane A., Becker-Heck, Anita, Ryan, Rebecca, Weber, Kristina, Filhol, Emilie, Krug, Pauline, Halbritter, Jan, Delous, Marion, Lasbennes, Marie-Christine, Linghu, Bolan, Oakeley, Edward J., Zarhrate, Mohammed, Nitschké, Patrick, Garfa-Traore, Meriem, Serluca, Fabrizio, Yang, Fan, Bouwmeester, Tewis, Pinson, Lucile, Cassuto, Elisabeth, Dubot, Philippe, Elshakhs, Neveen A. Soliman, Sahel, José A., Salomon, Rémi, Drummond, Iain A., Gubler, Marie-Claire, Antignac, Corinne, Chibout, Salahdine, Szustakowski, Joseph D., Hildebrandt, Friedhelm, Lorentzen, Esben, Sailer, Andreas W., Benmerah, Alexandre, Saint-Mezard, Pierre, Saunier, Sophie
Published 2015

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes

by Waters, Aoife M, Asfahani, Rowan, Carroll, Paula, Bicknell, Louise, Lescai, Francesco, Bright, Alison, Chanudet, Estelle, Brooks, Anthony, Christou-Savina, Sonja, Osman, Guled, Walsh, Patrick, Bacchelli, Chiara, Chapgier, Ariane, Vernay, Bertrand, Bader, David M, Deshpande, Charu, O’ Sullivan, Mary, Ocaka, Louise, Stanescu, Horia, Stewart, Helen S, Hildebrandt, Friedhelm, Otto, Edgar, Johnson, Colin A, Szymanska, Katarzyna, Katsanis, Nicholas, Davis, Erica, Kleta, Robert, Hubank, Mike, Doxsey, Stephen, Jackson, Andrew, Stupka, Elia, Winey, Mark, Beales, Philip L
Published 2015

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair

by Zhou, Weibin, Otto, Edgar A., Cluckey, Andrew, Airik, Rannar, Hurd, Toby W., Chaki, Moumita, Diaz, Katrina, Lach, Francis P., Bennett, Geoffrey R., Gee, Heon Y., Ghosh, Amiya K., Natarajan, Sivakumar, Thongthip, Supawat, Veturi, Uma, Allen, Susan J., Janssen, Sabine, Ramaswami, Gokul, Dixon, Joanne, Burkhalter, Felix, Spoendlin, Martin, Moch, Holger, Mihatsch, Michael J., Verine, Jerome, Reade, Richard, Soliman, Hany, Godin, Michel, Kiss, Denes, Monga, Guido, Mazzucco, Gianna, Amann, Kerstin, Artunc, Ferruh, Newland, Ronald C., Wiech, Thorsten, Zschiedrich, Stefan, Huber, Tobias B., Friedl, Andreas, Slaats, Gisela G., Joles, Jaap A., Goldschmeding, Roel, Washburn, Joseph, Giles, Rachel H., Levy, Shawn, Smogorzewska, Agata, Hildebrandt, Friedhelm
Published 2012

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

by Hoff, Sylvia, Halbritter, Jan, Epting, Daniel, Frank, Valeska, Nguyen, Thanh-Minh T., van Reeuwijk, Jeroen, Boehlke, Christopher, Schell, Christoph, Yasunaga, Takayuki, Helmstädter, Martin, Mergen, Miriam, Filhol, Emilie, Boldt, Karsten, Horn, Nicola, Ueffing, Marius, Otto, Edgar A., Eisenberger, Tobias, Elting, Mariet W., van Wijk, Joanna A.E., Bockenhauer, Detlef, Sebire, Neil J., Rittig, Søren, Vyberg, Mogens, Ring, Troels, Pohl, Martin, Pape, Lars, Neuhaus, Thomas J., Soliman Elshakhs, Neveen A., Koon, Sarah J., Harris, Peter C., Grahammer, Florian, Huber, Tobias B., Kuehn, E. Wolfgang, Kramer-Zucker, Albrecht, Bolz, Hanno J., Roepman, Ronald, Saunier, Sophie, Walz, Gerd, Hildebrandt, Friedhelm, Bergmann, Carsten, Lienkamp, Soeren S.
Published 2013

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

by Saisawat, Pawaree, Kohl, Stefan, Hilger, Alina C., Hwang, Daw-Yang, Gee, Heon Yung, Dworschak, Gabriel C., Tasic, Velibor, Pennimpede, Tracie, Natarajan, Sivakumar, Sperry, Ethan, Matassa, Danilo S., Stajić, Nataša, Bogdanovic, Radovan, de Blaauw, Ivo, Marcelis, Carlo L.M., Wijers, Charlotte H.W., Bartels, Enrika, Schmiedeke, Eberhard, Schmidt, Dominik, Mäzheuser, Stefanie, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Ludwig, Michael, Nöhen, Markus M., Draaken, Markus, Brosens, Erwin, Heij, Hugo, Tibboel, Dick, Herrmann, Bernhard G., Solomon, Benjamin D., de Klein, Annelies, van Rooij, Iris A.L.M., Esposito, Franca, Reutter, Heiko M., Hildebrandt, Friedhelm
Published 2013

Whole exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

by Gee, Heon Yung, Otto, Edgar A., Hurd, Toby W., Ashraf, Shazia, Chaki, Moumita, Cluckey, Andrew, Vega-Warner, Virginia, Saisawat, Pawaree, Diaz, Katrina A., Fang, Humphrey, Kohl, Stefan, Allen, Susan J., Airik, Rannar, Zhou, Weibin, Ramaswami, Gokul, Janssen, Sabine, Fu, Clementine, Innis, Jamie L., Weber, Stefanie, Vester, Udo, Davis, Erica E., Katsanis, Nicholas, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Attrach, Ibrahim Al, Hassoun, Ibrahim Al, Ozturk, Savas, Drozdz, Dorota, Helmchen, Udo, O’Toole, John F., Attanasio, Massimo, Nürnberg, Gudrun, Nürnberg, Peter, Washburn, Joseph, MacDonald, James, James, Jeffrey W., Levy, Shawn, Hildebrandt, Friedhelm
Published 2013