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