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Cover Image

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Cover Image, Volume 175C, Number 4, December 2017

  • Page: i
  • First Published: 12 December 2017
Cover Image, Volume 175C, Number 4, December 2017

The cover image, by Conny Van Ravenswaaij-Arts and Donna M. Martin, is based on the Introduction New Insights and Advances in CHARGE Syndrome: Diagnosis, Etiologies, Treatments, and Research Discoveries, DOI: 10.1002/ajmg.c.31592.

Issue Information

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Table of Contents, Volume 175C, Number 4, December 2017

  • Pages: 393-394
  • First Published: 12 December 2017
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Publication schedule for 2017

  • Page: 395
  • First Published: 12 December 2017

INTRODUCTION

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New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries

Conny van Ravenswaaij-Arts,  Donna M. Martin, 
  • Pages: 397-406
  • First Published: 24 November 2017

RESEARCH REVIEW

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Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up

Margaret A. Hefner,  Emily Fassi, 
  • Pages: 407-416
  • First Published: 31 October 2017

RESEARCH ARTICLE

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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

Marine Legendre,  Véronique Abadie,  Tania Attié-Bitach,  Nicole Philip,  Tiffany Busa,  Dominique Bonneau,  Estelle Colin,  Hélène Dollfus,  Didier Lacombe,  Annick Toutain,  Sophie Blesson,  Sophie Julia,  Dominique Martin-Coignard,  David Geneviève,  Bruno Leheup,  Sylvie Odent,  Pierre-Simon Jouk,  Sandra Mercier,  Laurence Faivre,  Catherine Vincent-Delorme,  Christine Francannet,  Sophie Naudion,  Michèle Mathieu-Dramard,  Marie-Ange Delrue,  Alice Goldenberg,  Delphine Héron,  Philippe Parent,  Renaud Touraine,  Valérie Layet,  Damien Sanlaville,  Chloé Quélin,  Sébastien Moutton,  Mélanie Fradin,  Aurélia Jacquette,  Sabine Sigaudy,  Lucile Pinson,  Pierre Sarda,  Anne-Marie Guerrot,  Massimiliano Rossi,  Alice Masurel-Paulet,  Salima El Chehadeh,  Xavier Piguel,  Montserrat Rodriguez-Ballesteros,  Stéphanie Ragot,  Stanislas Lyonnet,  Frédéric Bilan,  Brigitte Gilbert-Dussardier, 
  • Pages: 417-430
  • First Published: 27 November 2017

RESEARCH REVIEWS

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Behavior in CHARGE syndrome

Timothy S. Hartshorne,  Kasee K. Stratton,  David Brown,  Shanti Madhavan-Brown,  Megan C. Schmittel, 
  • Pages: 431-438
  • First Published: 30 October 2017
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Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures

Daniel I. Choo,  Kareem O. Tawfik,  Donna M. Martin,  Yehoash Raphael, 
  • Pages: 439-449
  • First Published: 30 October 2017
Open Access

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Christa M. de Geus,  Rolien H. Free,  Berit M. Verbist,  Deborah A. Sival,  Kim D. Blake,  Linda C. Meiners,  Conny M. A. van Ravenswaaij-Arts, 
  • Pages: 450-464
  • First Published: 23 November 2017

RESEARCH ARTICLE

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Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

Danielle E. Whittaker,  Sahrunizam Kasah,  Alex P. A. Donovan,  Jacob Ellegood,  Kimberley L. H. Riegman,  Holger A. Volk,  Imelda McGonnell,  Jason P. Lerch,  M. Albert Basson, 
  • First Published: 23 November 2017

RESEARCH REVIEWS

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CHARGEd with neural crest defects

Silke Pauli,  Ruchi Bajpai,  Annette Borchers, 
  • Pages: 478-486
  • First Published: 30 October 2017
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Clinical and molecular effects of CHD7 in the heart

Nicole Corsten-Janssen,  Peter J. Scambler, 
  • Pages: 487-495
  • First Published: 31 October 2017
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Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe

Kim D. Blake,  Alexandra S. Hudson, 
  • Pages: 496-506
  • First Published: 30 October 2017
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Reproductive endocrine phenotypes relating to CHD7 mutations in humans

Ravikumar Balasubramanian,  William F. Crowley Jr., 
  • Pages: 507-515
  • First Published: 20 November 2017
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Immunodeficiency in CHARGE syndrome

Sam Mehr,  Peter Hsu,  Dianne Campbell, 
  • Pages: 516-523
  • First Published: 21 November 2017