American Journal of Medical Genetics Part A

Cover image for Vol. 167 Issue 2

Early View (Online Version of Record published before inclusion in an issue)

Edited By: John C. Carey

Impact Factor: 2.048

ISI Journal Citation Reports © Ranking: 2013: 107/164 (Genetics & Heredity)

Online ISSN: 1552-4833

Associated Title(s): American Journal of Medical Genetics Part B: Neuropsychiatric Genetics


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  1. Clinical Reports

    1. Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome

      Mindy H. Li, Moriah Eberhard, Pamela Mudd, Luv Javia, Robert Zimmerman, Nahla Khalek and Elaine H. Zackai

      Article first published online: 21 JAN 2015 | DOI: 10.1002/ajmg.a.36915

    2. CRTAP mutation in a patient with Cole-Carpenter syndrome

      Meena Balasubramanian, Rebecca C. Pollitt, Kate E. Chandler, M. Z. Mughal, Michael J. Parker, Ann Dalton, Paul Arundel, Amaka C. Offiah and Nicholas J. Bishop

      Article first published online: 21 JAN 2015 | DOI: 10.1002/ajmg.a.36916

  2. Research Articles

    1. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

      Paulien A. Terhal, Rutger Jan A. J. Nievelstein, Eva J. J. Verver, Vedat Topsakal, Paula van Dommelen, Kristien Hoornaert, Martine Le Merrer, Andreas Zankl, Marleen E. H. Simon, Sarah F. Smithson, Carlo Marcelis, Bronwyn Kerr, Jill Clayton-Smith, Esther Kinning, Sahar Mansour, Frances Elmslie, Linda Goodwin, Annemarie H. van der Hout, Hermine E. Veenstra-Knol, Johanna C. Herkert, Allan M. Lund, Raoul C. M. Hennekam, André Mégarbané, Melissa M. Lees, Louise C. Wilson, Alison Male, Jane Hurst, Yasemin Alanay, Göran Annerén, Regina C. Betz, Ernie M. H. F. Bongers, Valerie Cormier-Daire, Anne Dieux, Albert David, Mariet W. Elting, Jenneke van den Ende, Andrew Green, Johanna M. van Hagen, Niels Thomas Hertel, Muriel Holder-Espinasse, Nicolette den Hollander, Tessa Homfray, Hanne D. Hove, Susan Price, Annick Raas-Rothschild, Marianne Rohrbach, Barbara Schroeter, Mohnish Suri, Elizabeth M. Thompson, Edward S. Tobias, Annick Toutain, Maaike Vreeburg, Emma Wakeling, Nine V. Knoers, Paul Coucke and Geert R. Mortier

      Article first published online: 21 JAN 2015 | DOI: 10.1002/ajmg.a.36922

    2. ADAM “sequence” part II: Hypothesis and speculation

      John M. Opitz, Dennis R. Johnson and Enid F. Gilbert-Barness

      Article first published online: 21 JAN 2015 | DOI: 10.1002/ajmg.a.36937

    3. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients

      Guillaume Jedraszak, Bénédicte Demeer, Michèle Mathieu-Dramard, Joris Andrieux, Aline Receveur, Astrid Weber, Una Maye, Nicola Foulds, IK Temple, John Crolla, Marie-Pierre Alex-Cordier, Damien Sanlaville, Lisa Ewans, Meredith Wilson, Ruth Armstrong, Amanda Clarkson, Henri Copin and Gilles Morin

      Article first published online: 8 JAN 2015 | DOI: 10.1002/ajmg.a.36882

  3. Correspondences

    1. Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

      Katy Phelan, Luigi Boccuto, R. Curtis Rogers, Sara M. Sarasua and Heather E. McDermid

      Article first published online: 25 SEP 2014 | DOI: 10.1002/ajmg.a.36788

  4. Clinical Reports

    1. Oculo-Auriculo-Vertebral Spectrum, Cat Eye, and Distal 22q11 Microdeletion Syndromes: A Unique Double Rearrangement

      Erin E. Torti, Stephen R. Braddock, Kristen Bernreuter and Jacqueline R. Batanian

      Article first published online: 29 MAR 2013 | DOI: 10.1002/j.1552-4833.2013.35918.x


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