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Journal Article
Choi, Yo Jun, Halbritter, Jan, Braun, Daniela A., Scheeler, Markus, Schapiro, David, Rim, John Hoon, Nandadasa, Sumeda, Choi, Won-il, Widmeier, Eugen ORCID: 0000-0002-7773-5190, Shril, Shirlee, Korber, Friederike, Sethi, Sidharth K., Lifton, Richard P., Beck, Bodo B., Apte, Suneel S., Gee, Heon Yung
ORCID: 0000-0002-8741-6177 and Hildebrandt, Friedhelm
(2019).
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy.
Am. J. Hum. Genet., 104 (1).
S. 45 - 55.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Braun, Daniela A., Lovric, Svjetlana, Schapiro, David, Schneider, Ronen, Marquez, Jonathan ORCID: 0000-0003-3377-7599, Asif, Maria, Hussain, Muhammad Sajid
ORCID: 0000-0002-1353-8809, Daga, Ankana, Widmeier, Eugen
ORCID: 0000-0002-7773-5190, Rao, Jia, Ashraf, Shazia, Tan, Weizhen, Lusk, C. Patrick, Kolb, Amy, Jobst-Schwan, Tilman
ORCID: 0000-0001-9802-6783, Schmidt, Johanna Magdalena, Hoogstraten, Charlotte A., Eddy, Kaitlyn, Kitzler, Thomas M., Shril, Shirlee, Moawia, Abubakar, Schrage, Kathrin, Khayyat, Arwa Ishaq A., Lawson, Jennifer A., Gee, Heon Yung
ORCID: 0000-0002-8741-6177, Warejko, Jillian K., Hermle, Tobias
ORCID: 0000-0002-0441-7749, Majmundar, Amar J., Hugo, Hannah, Budde, Birgit, Motameny, Susanne, Altmueller, Janine, Noegel, Angelika Anna, Fathy, Hanan M., Gale, Daniel P., Waseem, Syeda Seema, Khan, Ayaz, Kerecuk, Larissa, Hashmi, Seema, Mohebbi, Nilufar, Ettenger, Robert, Serdaroglu, Erkin
ORCID: 0000-0002-6863-8866, Alhasan, Khalid A., Hashem, Mais, Goncalves, Sara, Ariceta, Gema, Ubetagoyena, Mercedes, Antonin, Wolfram, Baig, Shahid Mahmood, Alkuraya, Fowzan S., Shen, Qian, Xu, Hong, Antignac, Corinne, Lifton, Richard P., Mane, Shrikant, Nuernberg, Peter, Khokha, Mustafa K. and Hildebrandt, Friedhelm
(2018).
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
J. Clin. Invest., 128 (10).
S. 4313 - 4329.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238
Braun, Daniela A., Schueler, Markus, Halbritter, Jan, Gee, Heon Yung ORCID: 0000-0002-8741-6177, 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.
ORCID: 0000-0003-1881-3782, Bockenhauer, Detlef
ORCID: 0000-0001-5878-941X, Soliman, Neveen A., Otto, Edgar A., Lifton, Richard P. and Hildebrandt, Friedhelm
(2016).
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.
Kidney Int., 89 (2).
S. 468 - 476.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
Gee, Heon Yung ORCID: 0000-0002-8741-6177, 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
ORCID: 0000-0002-2480-0171, Fathy, Hanan M., Jeck, Nikola, Klaus, Gunther, Nayir, Ahmet, Rahim, Khawla A., Al Attrach, Ibrahim, Al Hassoun, Ibrahim, Ozturk, Savas
ORCID: 0000-0002-0961-3810, Drozdz, Dorota, Helmchen, Udo, O'Toole, John F., Attanasio, Massimo
ORCID: 0000-0002-1278-3650, Lewis, Richard A., Nuernberg, Gudrun, Nuernberg, Peter, Washburn, Joseph, MacDonald, James, Innis, Jeffrey W., Levy, Shawn
ORCID: 0000-0002-1369-5740 and Hildebrandt, Friedhelm
(2014).
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int., 85 (4).
S. 880 - 888.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755