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The American Journal of Medical Genetics

The December 2017 issue of The American Journal of Medical Genetics, Part C [Seminars in Medical Genetic

s, volume 175C Number 4] is devoted entirely to CHARGE syndrome – 12 papers in all. 

Click below for highlights from each paper, profiles of the authors and their connection to the CHARGE Syndrome Foundation and summaries of their significance to individuals with CHARGE and their families.

“New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries”
Authors: Ravenswaaij-Arts and Martin
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“Genetic Counseling in CHARGE syndrome: Diagnostic evaluation through follow up”
Authors: Hefner and Fassi
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“CHARGEd with neural crest defects”
Authors: Pauli, Bajpai, Borchers
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“Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome”
Authors: Whittaker, Kasah, Donovan, Ellegood, Riegman, Volk, Mcgonnell, Lerch, Basson
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“Clinical and molecular effects of CHD7 in the heart”
Authors: Corsten-Janssen and Scambler
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“Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures”
Authors: Choo, Tawfik, Martin, Raphael
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“Reproductive endocrine phenotypes relating to CHD7 mutations in humans”
Authors: Balasubramanian and Crowley
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“Immunodeficiency in CHARGE syndrome”
Authors: Mehr, Hsu, Campbell
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“Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe”
Authors: Blake and Hudson
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“Behavior in CHARGE syndrome”
Authors: Hartshorne, Stratton, Brown, Madhavan-Brown and Schmittel
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“Guidelines in CHARGE syndrome and the missing link: Cranial Imaging”
Authors: de Geus, Free, Verbist, Sival, Blake, Meiners, van Ravenswaaij-Arts
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“Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome”
Authors: Legendre, Abadie, Gilbert-Dussardier and 44 Others!
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