Rare Copy Number Variants Are a Common Cause of Short Stature

od Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B., Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T.
Wydane 2013

SOS1 is the second most common Noonan gene but plays no major role in cardio‐facio‐cutaneous syndrome

od Zenker, Martin, Horn, Denise, Wieczorek, Dagmar, Allanson, Judith, Pauli, Silke, van der Burgt, Ineke, Doerr, Helmuth‐Guenther, Gaspar, Harald, Hofbeck, Michael, Gillessen‐Kaesbach, Gabriele, Koch, Andreas, Meinecke, Peter, Mundlos, Stefan, Nowka, Anja, Rauch, Anita, Reif, Silke, von Schnakenburg, Christian, Seidel, Heide, Wehner, Lars‐Erik, Zweier, Christiane, Bauhuber, Susanne, Matejas, Verena, Kratz, Christian P, Thomas, Christoph, Kutsche, Kerstin
Wydane 2007

Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

od Hauer, Nadine N., Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S., Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B., De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R., Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T.
Wydane w Eur J Hum Genet (2019)