Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy by Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke

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Further delineation of SLC9A3‐related congenital sodium diarrhea by Ema Bogdanic, Thomas Müller, Peter Heinz‐Erian, Dorota Garczarczyk‐Asim, Andreas R. Janecke, Aline Rückel

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Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely by Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R. Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian

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Three Novel <i>EPCAM</i> Variants Causing Tufting Enteropathy in Three Families by Hasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, Anna-Maria Schneider, Malte Cremer, Johannes A. Mayr, Rainer Rossi, Thomas Müller, Andreas R. Janecke

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Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation by Anna M. Kavallar, Franka Messner, Stefan Scheidl, Rupert Oberhuber, Stefan Schneeberger, Denise Aldrian, Valeria Berchtold, Murat Sanal, Andreas Entenmann, Simon Straub, Anna Gasser, Andreas R. Janecke, Thomas Müller, Georg F. Vogel

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Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN. by Petra Seemann, Anja Brehm, Jana König, Carsten Reissner, Sigmar Stricker, Pia Kuss, Julia Haupt, Stephanie Renninger, Joachim Nickel, Walter Sebald, Jay C Groppe, Frank Plöger, Jens Pohl, Mareen Schmidt-von Kegler, Maria Walther, Ingmar Gassner, Cristina Rusu, Andreas R Janecke, Katarina Dathe, Stefan Mundlos

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MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta by Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk

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UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking by Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu de Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato

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Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies by Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

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