Table of contents

Genotype-phenotype correlations

• Original article:

  Phenotypic spectrum associated with CASK loss-of-function mutations

  (27 September, 2011)

  Ute Moog, Kerstin Kutsche, Fanny Kortüm, Bettina Chilian, Tatjana Bierhals, Neophytos Apeshiotis, Stefanie Balg, Nicolas Chassaing, Christine Coubes, Soma Das, Hartmut Engels, Hilde Van Esch, Ute Grasshoff, Marisol Heise, Bertrand Isidor, Joanna Jarvis, Udo Koehler, Thomas Martin, Barbara Oehl-Jaschkowitz, Els Ortibus, Daniela T Pilz, Prab Prabhakar, Gudrun Rappold, Isabella Rau, Günther Rettenberger, Gregor Schlüter, Richard H Scott, Moonef Shoukier, Eva Wohlleber, Birgit Zirn, William B Dobyns, Gökhan Uyanik
• Original article: New findings for phenotype–genotype correlations in a large European series of holoprosencephaly cases (22 September, 2011)

  Sandra Mercier, Christèle Dubourg, Nicolas Garcelon, Boris Campillo-Gimenez, Isabelle Gicquel, Marion Belleguic, Leslie Ratié, Laurent Pasquier, Philippe Loget, Claude Bendavid, Sylvie Jaillard, Lucie Rochard, Chloé Quélin, Valérie Dupé, Véronique David, Sylvie Odent
• Original article: Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome) (7 October, 2011)

  Sara M Sarasua, Alka Dwivedi, Luigi Boccuto, Jonathan D Rollins, Chin-Fu Chen, R Curtis Rogers, Katy Phelan, Barbara R DuPont, Julianne S Collins
• Original article:

  Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

  (22 September, 2011)

  Julie M Schultz, Rashid Bhatti, Anne C Madeo, Amy Turriff, Julie A Muskett, Christopher K Zalewski, Kelly A King, Zubair M Ahmed, Saima Riazuddin, Nazir Ahmad, Zawar Hussain, Muhammad Qasim, Shaheen N Kahn, Meira R Meltzer, Xue Z Liu, Murali Munisamy, Manju Ghosh, Heidi L Rehm, Ekaterini T Tsilou, Andrew J Griffith, Wadih M Zein, Carmen C Brewer, Sheikh Riazuddin, Thomas B Friedman