Table of contents

Genotype-phenotype correlations

• Original article:

  Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype–phenotype correlations in a large cohort of patients

  (30 September, 2015)

  Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Domenica Battaglia, Ilaria Contaldo, Eugenio Mercuri, Maria Chiara Stefanini, Roseline Caumes, Patrick Edery, Massimiliano Rossi, Maria Piccione, Giovanni Corsello, Matteo Della Monica, Francesca Scarano, Manuela Priolo, Mattia Gentile, Giuseppe Zampino, Raymon Vijzelaar, Omar Abdulrahman, Anita Rauch, Beatrice Oneda, Matthew A Deardorff, Sulagna C Saitta, Marni J Falk, Holly Dubbs, Elaine Zackai
• Original article: Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins (25 September, 2015)

  Ho Tin Wong, Deborah L McCartney, Julia C Lewis, Julian R Sampson, Christopher J Howe, Petrus J de Vries
• Original article: Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran (7 October, 2015)

  Christina M Sloan-Heggen, Mojgan Babanejad, Maryam Beheshtian, Allen C Simpson, Kevin T Booth, Fariba Ardalani, Kathy L Frees, Marzieh Mohseni, Reza Mozafari, Zohreh Mehrjoo, Leila Jamali, Saeideh Vaziri, Tara Akhtarkhavari, Niloofar Bazazzadegan, Nooshin Nikzat, Sanaz Arzhangi, Farahnaz Sabbagh, Hasan Otukesh, Seyed Morteza Seifati, Hossein Khodaei, Maryam Taghdiri, Nicole C Meyer, Ahmad Daneshi, Mohammad Farhadi, Kimia Kahrizi, Richard JH Smith, Hela Azaiez, Hossein Najmabadi