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De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
2016
99
3
711-719

Weber, Stefanie;Strasser, Katja;Rath, Sabine;Kittke, Achim;Beicht, Sonja;Alberer, Martin;Lange-Sperandio, Bärbel;Hoyer, Peter F;Benz, Marcus R;Ponsel, Sabine;Weber, Lutz T;Klein, Hanns-Georg;Hoefele, Julia
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Pediatr Nephrol
2016
31
6
941-55

Lamina, Claudia;Friedel, Salome;Coassin, Stefan;Rueedi, Rico;Yousri, Noha A;Seppälä, Ilkka;Gieger, Christian;Schönherr, Sebastian;Forer, Lukas;Erhart, Gertraud;Kollerits, Barbara;Marques-Vidal, Pedro;Ried, Janina;Waeber, Gerard;Bergmann, Sven;Dähnhardt, Doreen;Stöckl, Andrea;Kiechl, Stefan;Raitakari, Olli T;Kähönen, Mika;Willeit, Johann;Kedenko, Ludmilla;Paulweber, Bernhard;Peters, Annette;Meitinger, Thomas;Strauch, Konstantin;Lehtimäki, Terho;Hunt, Steven C;Vollenweider, Peter;Kronenberg, Florian
A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.
Hum Mol Genet
2016
25
16
3635-3646

Koch, Johannes;Feichtinger, René G;Freisinger, Peter;Pies, Mechthild;Schrödl, Falk;Iuso, Arcangela;Sperl, Wolfgang;Mayr, Johannes A;Prokisch, Holger;Haack, Tobias B
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy.
J Med Genet
2016
53
4
270-8

Kurth, Ingo;Baumgartner, Manuela;Schabhüttl, Maria;Tomni, Cecilia;Windhager, Reinhard;Strom, Tim M;Wieland, Thomas;Gremel, Kurt;Auer-Grumbach, Michaela
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
Am J Med Genet B Neuropsychiatr Genet
2016
171
6
875-8

Staufner, Christian;Haack, Tobias B;Feyh, Patrik;Gramer, Gwendolyn;Raga, Deepthi Ediga;Terrile, Caterina;Sauer, Sven;Okun, Jürgen G;Fang-Hoffmann, Junmin;Mayatepek, Ertan;Prokisch, Holger;Hoffmann, Georg F;Kölker, Stefan
Genetic cause and prevalence of hydroxyprolinemia.
J Inherit Metab Dis
2016
39
5
625-632

Franko, Andras;Huypens, Peter;Neschen, Susanne;Irmler, Martin;Rozman, Jan;Rathkolb, Birgit;Neff, Frauke;Prehn, Cornelia;Dubois, Guillaume;Baumann, Martina;Massinger, Rebecca;Gradinger, Daniel;Przemeck, Gerhard K H;Repp, Birgit;Aichler, Michaela;Feuchtinger, Annette;Schommers, Philipp;Stöhr, Oliver;Sanchez-Lasheras, Carmen;Adamski, Jerzy;Peter, Andreas;Prokisch, Holger;Beckers, Johannes;Walch, Axel K;Fuchs, Helmut;Wolf, Eckhard;Schubert, Markus;Wiesner, Rudolf J;Hrab? de Angelis, Martin
Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice.
Diabetes
2016
65
9
2540-52

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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Nat Genet
2016
48
8
856-66

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Genome-wide association study identifies 74 loci associated with educational attainment.
Nature
2016
533
7604
539-42

Colin, Estelle;Daniel, Jens;Ziegler, Alban;Wakim, Jamal;Scrivo, Aurora;Haack, Tobias B;Khiati, Salim;Denommé, Anne-Sophie;Amati-Bonneau, Patrizia;Charif, Majida;Procaccio, Vincent;Reynier, Pascal;Aleck, Kyrieckos A;Botto, Lorenzo D;Herper, Claudia Lena;Kaiser, Charlotte Sophia;Nabbout, Rima;N'Guyen, Sylvie;Mora-Lorca, José Antonio;Assmann, Birgit;Christ, Stine;Meitinger, Thomas;Strom, Tim M;Prokisch, Holger;Miranda-Vizuete, Antonio;Hoffmann, Georg F;Lenaers, Guy;Bomont, Pascale;Liebau, Eva;Bonneau, Dominique
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
2016
99
3
695-703