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2016
Angius, Andrea ORCID: 0000-0003-2596-6461, Uva, Paolo
ORCID: 0000-0002-9524-8492, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana
ORCID: 0000-0001-9946-1509, Loi, Angela, Marcia, Loredana, Hoehne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara
ORCID: 0000-0002-7321-2384, Atalay, Hatice Tuba
ORCID: 0000-0002-1847-615X, Inan, Sibel, El Assy, Osama, Smit, Leo M. E., Okur, Ilyas, Boduroglu, Koray
ORCID: 0000-0001-6260-1942, Utine, Gulen Eda, Kilic, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura
ORCID: 0000-0001-9128-8537 and Rutsch, Frank
(2016).
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Am. J. Hum. Genet., 99 (1).
S. 236 - 246.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Stella, Jacqueline, Buers, Insa, van de Wetering, Koen, Hoehne, Wolfgang, Rutsch, Frank and Nitschke, Yvonne (2016). Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1. Hum. Mutat., 37 (11). S. 1190 - 1202. HOBOKEN: WILEY-BLACKWELL. ISSN 1098-1004
2015
Koenig, Jens C., Rutsch, Frank, Bockmeyer, Clemens, Baumgartner, Matthias, Beck, Bodo B., Kranz, Brigitta and Konrad, Martin (2015). Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency. Pediatr. Nephrol., 30 (7). S. 1203 - 1207. NEW YORK: SPRINGER. ISSN 1432-198X
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd ORCID: 0000-0002-6555-8174, Thiele, Holger, Nuernberg, Peter, Hoehne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette and Hennekam, Raoul C.
(2015).
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome.
Am. J. Hum. Genet., 96 (2).
S. 275 - 283.
CAMBRIDGE:
CELL PRESS.
ISSN 1537-6605
2012
Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R.
ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R.
(2012).
Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism.
Nature Genet., 44 (10).
S. 1152 - 1158.
NEW YORK:
NATURE PUBLISHING GROUP.
ISSN 1061-4036
2010
Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nuernberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nuernberg, Peter and Rutsch, Frank (2010). Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutieres Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression. Hum. Mutat., 31 (11). S. E1836 - 15. MALDEN: WILEY-BLACKWELL. ISSN 1059-7794