Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot.
Human genome variation
Authors:
Sheetal Kumar, Sohail Ahmed, Pietro Incardona, Nicole Cesarato, Yue Zhang, Monica Ines Natale, Muhammad Javed Khan, Laura Valinotto, Kifayat Ullah, Wasim Ahmad, Ines Irurzun, Peter M Krawitz, Bo Liang, Regina C Betz
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
Movement disorders : official journal of the Movement Disorder Society
Authors:
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M Stehr, Peter M Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G Christoph Korenke, Michael Zech
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism.
American journal of human genetics
Authors:
Debora Tibbe, Marie Ronja Vogt, Tess Holling, Lea Dewi Schlieben, Fanny Kortüm, Moneef Shoukier, Christoph Bagowski, Felix Distelmaier, Luisa Averdunk, Alexej Knaus, Peter Krawitz, Alma Kuechler, Elke Lainka, Amelie Stalke, Sandra von Hardenberg, Bernd Auber, Eva-Doreen Pfister, Bruno Reversade, Anthony Sabbagh, Aida M Bertoli-Avella, Salem Alawbathani, Elizabeth E Palmer, Manisha Chauhan, Rocio Rius, Yoonji Kim, Dzhoy Papingi, Deborah Bartholdi, Dominique Braun, Oliver Maier, April Dinwiddie, Elisabeth Steichen-Gersdorf, Andreas R Janecke, Anatoly Tiulpakov, Nikolay Zernov, Maria Izabel Arismendi, Alexander A L Jorge, Himanshu Goel, Lauren Dreyer, Lily Loughman, Holger Prokisch, Kerstin Borgmann, Kerstin Kutsche