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Comparison of predicted and actual consequences of missense mutations
Miosge, Lisa A., Field, Matthew A., Sontani, Yovina, Cho, Vicky, Johnson, Simon, Palkova, Anna, Balakishnan, Bhavani, Liang, Rong, Zhang, Yafei, Lyon, Stephen, Beutler, Bruce, Whittle, Belinda, Bertram, Edward M., Enders, Anselm, Goodnow, Christopher C., Andrews, T. Daniel
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (15.09.2015)
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Journal Article
An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders
Chen, Siwei, Fragoza, Robert, Klei, Lambertus, Liu, Yuan, Wang, Jiebiao, Roeder, Kathryn, Devlin, Bernie, Yu, Haiyuan
Published in Nature genetics (01.07.2018)
Published in Nature genetics (01.07.2018)
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Journal Article
Rare missense mutations in P2RY11 in narcolepsy with cataplexy
Degn, Matilda, Dauvilliers, Yves, Dreisig, Karin, Lopez, Régis, Pfister, Corinne, Pradervand, Sylvain, Rahbek Kornum, Birgitte, Tafti, Mehdi
Published in Brain (London, England : 1878) (01.06.2017)
Published in Brain (London, England : 1878) (01.06.2017)
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Journal Article
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects
Walsh, Meghan T., Di Leo, Enza, Okur, Ilyas, Tarugi, Patrizia, Hussain, M. Mahmood
Published in Biochimica et biophysica acta (01.11.2016)
Published in Biochimica et biophysica acta (01.11.2016)
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Journal Article
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect
Ferese, Rosangela, Bonetti, Monica, Consoli, Federica, Guida, Valentina, Sarkozy, Anna, Lepri, Francesca Romana, Versacci, Paolo, Gambardella, Stefano, Calcagni, Giulio, Margiotti, Katia, Piceci Sparascio, Francesca, Hozhabri, Hossein, Mazza, Tommaso, Digilio, Maria Cristina, Dallapiccola, Bruno, Tartaglia, Marco, Marino, Bruno, Hertog, Jeroen den, Luca, Alessandro
Published in Human mutation (01.10.2018)
Published in Human mutation (01.10.2018)
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Journal Article
Common Pathogenic Effects of Missense Mutations in the P-Type ATPase ATP13A2 (PARK9) Associated with Early-Onset Parkinsonism
Podhajska, Agata, Musso, Alessandra, Trancikova, Alzbeta, Stafa, Klodjan, Moser, Roger, Sonnay, Sarah, Glauser, Liliane, Moore, Darren J.
Published in PloS one (29.06.2012)
Published in PloS one (29.06.2012)
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Journal Article
Six Novel Missense Mutations in the LDL Receptor-Related Protein 5 ( LRP5) Gene in Different Conditions with an Increased Bone Density
Van Wesenbeeck, Liesbeth, Cleiren, Erna, Gram, Jeppe, Beals, Rodney K., Bénichou, Olivier, Scopelliti, Domenico, Key, Lyndon, Renton, Tara, Bartels, Cindy, Gong, Yaoqin, Warman, Matthew L., de Vernejoul, Marie-Christine, Bollerslev, Jens, Van Hul, Wim
Published in American journal of human genetics (01.03.2003)
Published in American journal of human genetics (01.03.2003)
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Journal Article
Two families with novel missense mutations in COL4A1: When diagnosis can be missed
Giorgio, Elisa, Vaula, Giovanna, Bosco, Giovanni, Giacone, Sara, Mancini, Cecilia, Calcia, Alessandro, Cavalieri, Simona, Di Gregorio, Eleonora, Rigault De Longrais, Roberta, Leombruni, Sabrina, Pinessi, Lorenzo, Cerrato, Paolo, Brusco, Alfredo, Brussino, Alessandro
Published in Journal of the neurological sciences (15.05.2015)
Published in Journal of the neurological sciences (15.05.2015)
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Journal Article
Two Novel Missense Mutations in G Protein-Coupled Receptor 54 in a Patient with Hypogonadotropic Hypogonadism
Semple, R. K., Achermann, J. C., Ellery, J., Farooqi, I. S., Karet, F. E., Stanhope, R. G., O’Rahilly, S., Aparicio, S. A.
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
Published in The journal of clinical endocrinology and metabolism (01.03.2005)
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Journal Article
Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype
Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, Digilio, Cristina, Palleschi, Antonio, Pizzuti, Antonio, Grammatico, Paola, Zampino, Giuseppe, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Published in American journal of human genetics (01.07.2006)
Published in American journal of human genetics (01.07.2006)
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Journal Article
Hypoxia-Inducible Factor 1 α Protein Expression Is Controlled by Oxygen-Regulated Ubiquitination That Is Disrupted by Deletions and Missense Mutations
Sutter, Carrie Hayes, Laughner, Erik, Semenza, Gregg L.
Published in Proceedings of the National Academy of Sciences - PNAS (25.04.2000)
Published in Proceedings of the National Academy of Sciences - PNAS (25.04.2000)
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Journal Article
VP.22 Dystrophin transcript profile in urinary stem cells allows to study the impact of missense mutations
Mietto, M., Neri, M., Ricci, F., Rossi, R., Margutti, A., Nagliati, V., Selvatici, R., Ferlini, A., Falzarano, M.
Published in Neuromuscular disorders : NMD (01.10.2022)
Published in Neuromuscular disorders : NMD (01.10.2022)
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Journal Article
Abstract 192: Characterization of Microsomal Triglyceride Transfer Protein Missense Mutations Found in Abetalipoproteinemia and Hybobetalipoproteinemia Subjects
Walsh, Meghan T, Di Leo, Enza, Tarugi, Patrizia, Hussain, M. Mahmood
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2016)
Published in Arteriosclerosis, thrombosis, and vascular biology (01.05.2016)
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Journal Article
Novel connexin40 missense mutations in patients with familial atrial fibrillation
Yang, Y.-Q., Liu, X., Zhang, X.-L., Wang, X.-H., Tan, H.-W., Shi, H.-F., Jiang, W.-F., Fang, W.-Y.
Published in Europace (London, England) (01.10.2010)
Published in Europace (London, England) (01.10.2010)
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Journal Article