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2023 Citations

Boschann, F., Kosmehl, S., Bloching, M., Grünhagen, J., Hildebrand, G., Horn, D., & Lyutenski, S. (2023). Novel noncanonical splice site variant causes mild chd7‐related disorder with variable intrafamilial expressivity. American Journal of Medical Genetics Part A, 191(4), 1128–1132. https://doi.org/10.1002/ajmg.a.63122

Dana, J., Dorval, G., Martin, C. S., Belhous, K., Levy, R., Marlin, S., De Bie, I., Mautret‐Godefroy, M., Rausell, A., Rio, M., Boucher‐Brischoux, E., Attié‐Bitach, T., Boddaert, N., & Pingault, V. (2023). Investigating genotype‐to‐phenotype correlation in charge syndrome by deep phenotyping and multiparametric clustering. Clinical Genetics, 104(4), 466–471. https://doi.org/10.1111/cge.14363

Donnell, S., Kraemer, M. & Kadakia, S. (2023). Neonatal stridor presents at home – vocal fold paralysis as rare presenting feature of CHARGE syndrome. Case Reports in Perinatal Medicine12(1), 20220033. https://doi.org/10.1515/crpm-2022-0033

Hartshorne, T. S., & Slavin, L. J. (2023). CHARGE syndrome. In M. M. Perfect, C. A. Riccio, & M. A. Bray (Eds.), Health-related disorders in children and adolescents: A guidebook for educators and service providers (pp. 453–459). American Psychological Association. https://doi.org/10.1037/0000349-054

Hodorovich, D. R., Lindsley, P. M., Berry, A. A., Burton, D. F., & Marsden, K. C. (2023). Morphological and sensorimotor phenotypes in a zebrafish charge syndrome model are domain‐dependent. Genes, Brain and Behavior, 22(3). https://doi.org/10.1111/gbb.12839

Krueger, L. A., Bills, J. D., Lim, Z. Y., Skidmore, J. M., Martin, D. M., & Morris, A. C. (2023). Chromatin remodeler CHD7 regulates photoreceptor development and outer segment length. Experimental Eye Research, 226, 109299. https://doi.org/10.1016/j.exer.2022.109299

Lewis, M. A., Juliano, A., Robson, C., Clement, E., Nash, R., Rajput, K., & D’Arco, F. (2023). The spectrum of cochlear malformations in charge syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear. Neuroradiology, 65(4), 819–834. https://doi.org/10.1007/s00234-023-03118-9

Onesimo, R., Sforza, E., Giorgio, V., Rigante, D., Kuczynska, E., Leoni, C., Proli, F., Agazzi, C., Limongelli, D., Cerchiari, A., Tartaglia, M., & Zampino, G. (2023). Predicting the clinical trajectory of feeding and swallowing abilities in CHARGE syndrome. European Journal of Pediatrics, 182(4), 1869–1877. https://doi.org/10.1007/s00431-023-04841-4

Peng, T., Cheng, Y., Xiong, M., & Cheng, G. (2023). Generation of a human ipsc line (FDCHI009-A) from a patient with CHARGE syndrome carrying a novel CHD7 mutation (c.2939 T > C). Stem Cell Research, 66, 102996. https://doi.org/10.1016/j.scr.2022.102996

Polito, M. V., Ferraioli, M., Nocilla, A., Coppola, G., D’Auria, F., Marzano, A., Barnabei, L., Malinconico, M., Bossone, E., & Ferrara, F. (2023). CHARGE syndrome and congenital heart diseases: Systematic review of literature. Monaldi Archives for Chest Disease. https://doi.org/10.4081/monaldi.2023.2661

Sallis, S., Bérubé-Simard, F.-A., Grondin, B., Leduc, E., Azouz, F., Bélanger, C., & Pilon, N. (2023). The CHARGE syndrome-associated protein FAM172A controls AGO2 nuclear import. Life Science Alliance, 6(8). https://doi.org/10.26508/lsa.202302133

Sharifovna, S. N. (2023). CHARGE syndrome classification, etiology . Open Access Repository4(03), 98–100. https://doi.org/10.17605/OSF.IO/CF9GP

Shuto, M., Hirano, N., Oguri, S., Itonaga, T., Inoue, M., Suenobu, S., & Ihara, K. (2022). Acute myeloid leukemia associated with CHARGE syndrome. American Journal of Medical Genetics Part A, 191(3), 878–881. https://doi.org/10.1002/ajmg.a.63087

To learn about the Institute on Movement Studies for Individuals with Visual Impairment or Deafblindness connection to the Foundation watch this video.

Canadian scientists in the laboratory of Dr. Nicolas Pilon have found a new gene, Fam172a, that might be involved in CHARGE syndrome.

The research “Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome”ers discovered that Fam172a mice exhibit many features similar to those observed in CHARGE syndrome.

Authors: Bélanger, Bérubé-Simard, Leduc, Bernas, Campeau, Lalani, Martin, Bielas, Moccia, Srivastava, Silversides, and Pilon
Click Here For The Summary



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



Read More About American Journal of Medical Genetics 2017

“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
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“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

CHARGE Syndrome Research:

The Past and the Future

knowledgeAs first presented on Professional Day at the 2015 CHARGE Syndrome Conference:

Updated clinical diagnostic criteria for CHARGE syndrome have just been published by a team that includes two of our own:  Caitlin Hale, a genetic counselor who attended the 2015 conference as a Davenport Fellow, and Donna Martin, a medical geneticist long interested in CHARGE syndrome and the chair of the Foundation’s scientific advisory board.

This important paper was published online in the American Journal of Medical Genetics.  The proposed updated clinical criteria proposed CHD7 variants as a major feature, along with coloboma, choanal atresia and ear findings. CHARGE remains a complicated condition with lots of variability – no two children are exactly alike and no one feature is required for a diagnosis.

This paper emphasizes the usefulness of CHD7 testing in the clinical diagnostic evaluation of possible CHARGE syndrome.

Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.