CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly
Hussain, Muhammad S, Baig, Shahid M, Neumann, Sascha, Peche, Vivek S, Szczepanski, Sandra, Nürnberg, Gudrun, Tariq, Muhammad, Jameel, Muhammad, Khan, Tahir N, Fatima, Ambrin, Malik, Naveed A, Ahmad, Ilyas, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Höhne, Wolfgang, Yigit, Gökhan, Wollnik, Bernd, Neubauer, Bernd A, Nürnberg, Peter, Noegel, Angelika A
Published in Human molecular genetics (20.12.2013)
Published in Human molecular genetics (20.12.2013)
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Skeletal dysplasia in a consanguineous clan from the island of Nias/Indonesia is caused by a novel mutation in B3GAT3
Budde, Birgit S., Mizumoto, Shuji, Kogawa, Ryo, Becker, Christian, Altmüller, Janine, Thiele, Holger, Rüschendorf, Franz, Toliat, Mohammad R., Kaleschke, Gerrit, Hämmerle, Johannes M., Höhne, Wolfgang, Sugahara, Kazuyuki, Nürnberg, Peter, Kennerknecht, Ingo
Published in Human genetics (01.07.2015)
Published in Human genetics (01.07.2015)
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Biallelic SYNE2 Missense Mutations Leading to Nesprin-2 Giant Hypo-Expression Are Associated with Intellectual Disability and Autism
Young, Natalie, Asif, Maria, Jackson, Matthew, Fernández-Mayoralas, Daniel Martín, de la Peña, Mar Jimenez, Calleja-Pérez, Beatriz, Álvarez, Sara, Hunter-Featherstone, Eve, Noegel, Angelika A, Höhne, Wolfgang, Nürnberg, Peter, Obara, Boguslaw, Hussain, Muhammad Sajid, Karakesisoglou, Iakowos, Fernández-Jaén, Alberto
Published in Genes (24.08.2021)
Published in Genes (24.08.2021)
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Mutations of KIF14 cause primary microcephaly by impairing cytokinesis
Moawia, Abubakar, Shaheen, Ranad, Rasool, Sajida, Waseem, Syeda Seema, Ewida, Nour, Budde, Birgit, Kawalia, Amit, Motameny, Susanne, Khan, Kamal, Fatima, Ambrin, Jameel, Muhammad, Ullah, Farid, Akram, Talia, Ali, Zafar, Abdullah, Uzma, Irshad, Saba, Höhne, Wolfgang, Noegel, Angelika Anna, Al‐Owain, Mohammed, Hörtnagel, Konstanze, Stöbe, Petra, Baig, Shahid Mahmood, Nürnberg, Peter, Alkuraya, Fowzan Sami, Hahn, Andreas, Hussain, Muhammad Sajid
Published in Annals of neurology (01.10.2017)
Published in Annals of neurology (01.10.2017)
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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
Nitschke, Yvonne, Baujat, Geneviève, Botschen, Ulrike, Wittkampf, Tanja, du Moulin, Marcel, Stella, Jacqueline, Le Merrer, Martine, Guest, Geneviève, Lambot, Karen, Tazarourte-Pinturier, Marie-Frederique, Chassaing, Nicolas, Roche, Olivier, Feenstra, Ilse, Loechner, Karen, Deshpande, Charu, Garber, Samuel J., Chikarmane, Rashmi, Steinmann, Beat, Shahinyan, Tatevik, Martorell, Loreto, Davies, Justin, Smith, Wendy E., Kahler, Stephen G., McCulloch, Mignon, Wraige, Elizabeth, Loidi, Lourdes, Höhne, Wolfgang, Martin, Ludovic, Hadj-Rabia, Smaïl, Terkeltaub, Robert, Rutsch, Frank
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1
Stella, Jacqueline, Buers, Insa, van de Wetering, Koen, Höhne, Wolfgang, Rutsch, Frank, Nitschke, Yvonne
Published in Human mutation (01.11.2016)
Published in Human mutation (01.11.2016)
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R
Published in Nature genetics (01.10.2012)
Published in Nature genetics (01.10.2012)
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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family
Khan, Muzammil A, Rupp, Verena M, Orpinell, Meritxell, Hussain, Muhammad S, Altmüller, Janine, Steinmetz, Michel O, Enzinger, Christian, Thiele, Holger, Höhne, Wolfgang, Nürnberg, Gudrun, Baig, Shahid M, Ansar, Muhammad, Nürnberg, Peter, Vincent, John B, Speicher, Michael R, Gönczy, Pierre, Windpassinger, Christian
Published in Human molecular genetics (15.11.2014)
Published in Human molecular genetics (15.11.2014)
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Structural Basis for Catalytic Activity and Enzyme Polymerization of Phospholipid Hydroperoxide Glutathione Peroxidase-4 (GPx4)
Scheerer, Patrick, Borchert, Astrid, Krauss, Norbert, Wessner, Helga, Gerth, Christa, Höhne, Wolfgang, Kuhn, Hartmut
Published in Biochemistry (Easton) (07.08.2007)
Published in Biochemistry (Easton) (07.08.2007)
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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism
Rutsch, Frank, Gailus, Susann, Miousse, Isabelle R, Suormala, Terttu, Sagné, Corinne, Toliat, Mohammad Reza, Nürnberg, Gudrun, Wittkampf, Tanja, Buers, Insa, Sharifi, Azita, Stucki, Martin, Becker, Christian, Baumgartner, Matthias, Robenek, Horst, Marquardt, Thorsten, Höhne, Wolfgang, Gasnier, Bruno, Rosenblatt, David S, Fowler, Brian, Nürnberg, Peter
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia
Voit, Thomas, Weterman, Marian A J, Krägeloh-Mann, Ingeborg, Stoets, Loes M E, Wollnik, Bernd, Kyllerman, Marten, Becker, Christian, van der Knaap, Marjo S, van Ruissen, Fred, Aronica, Eleonora, T te Beek, Erik, Brockmann, Knut, Basel-Vanagaite, Lina, Battini, Roberta, Grillo, Eugenio, Sztriha, Laszlo, Barth, Peter G, Nürnberg, Peter, Roelens, Filip, Boltshauser, Eugen, Fluiter, Kees, Ferrie, Colin D, Poll-The, Bwee Tien, Nürnberg, Gudrun, Budde, Birgit S, Crow, Yanick J, Brussel, Wim, Beemer, Frits A, Muntoni, Francesco, Steinlin, Maja, Willemsen, Michèl, Toliat, Mohammad Reza, Namavar, Yasmin, Hammersen, Gerhard, de Vries, Linda S, Höhne, Wolfgang, Hennekam, Raoul C M, Baas, Frank
Published in Nature genetics (01.09.2008)
Published in Nature genetics (01.09.2008)
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Changing the Antigen Binding Specificity by Single Point Mutations of an Anti-p24 (HIV-1) Antibody
Winkler, Karsten, Kramer, Achim, Kuttner, Gabriele, Seifert, Martina, Scholz, Christa, Wessner, Helga, Schneider-Mergener, Jens, Hohne, Wolfgang
Published in The Journal of immunology (1950) (15.10.2000)
Published in The Journal of immunology (1950) (15.10.2000)
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Journal Article
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
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Journal Article
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Rutsch, Frank, Suk, Anita, Ferre, Merry, Höhne, Wolfgang, Knisely, Alex, Hinrichs, Bernd, Lehmann, Mandy, Epplen, Jörg T, Ruf, Nico, Vallance, Hillary, Terkeltaub, Robert, Schnabel, Dirk, Schauer, Galen, Smith, Wendy, Sinaiko, Alan R, Roscioli, Tony, Filippone, Marco, Vaingankar, Sucheta, McGill, James, Toliat, Mohammad R, Superti-Furga, Andrea, Nürnberg, Peter
Published in Nature genetics (01.08.2003)
Published in Nature genetics (01.08.2003)
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Journal Article
Congenital Glutamine Deficiency with Glutamine Synthetase Mutations
Häberle, Johannes, Görg, Boris, Rutsch, Frank, Schmidt, Eva, Toutain, Annick, Benoist, Jean-François, Gelot, Antoinette, Suc, Annie-Laure, Höhne, Wolfgang, Schliess, Freimut, Häussinger, Dieter, Koch, Hans G
Published in The New England journal of medicine (03.11.2005)
Published in The New England journal of medicine (03.11.2005)
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Loss of Chondroitin 6-O-Sulfotransferase-1 Function Results in Severe Human Chondrodysplasia with Progressive Spinal Involvement
Thiele, Holger, Sakano, Masahiro, Kitagawa, Hiroshi, Sugahara, Kazuyuki, Rajab, Anna, Höhne, Wolfgang, Ritter, Heide, Leschik, Gundula, Nürnberg, Peter, Mundlos, Stefan, McKusick, Victor A.
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (06.07.2004)
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