Research & Literature

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

Hale CL, Niederriter AN, Green GE, Martin DM

American journal of medical genetics. Part A 2016; (170A(2)):344-354 doi:10.1002/ajmg.a.37435.

Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.

Reynaert N, de Zegher F, Francois I, et al.

Hormone research in paediatrics 2016; (85(4)):288-90 doi:10.1159/000443308.

G-Protein α-Subunit Gsα Is Required for Craniofacial Morphogenesis.

Lei R, Zhang K, Wei Y, et al.

PloS one 2016; (11(2)):e0147535 doi:10.1371/journal.pone.0147535.

Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.

Vesseur A, Langereis M, Free R, et al.

American journal of medical genetics. Part A 2016; (170(8)):2022-30 doi:10.1002/ajmg.a.37692.

Quality of life in adolescents and adults with CHARGE syndrome.

Hartshorne N, Hudson A, MacCuspie J, et al.

American journal of medical genetics. Part A 2016; (170(8)):2012-21 doi:10.1002/ajmg.a.37769.

Rescue of neural crest-derived phenotypes in a zebrafish CHARGE model by Sox10 downregulation.

Asad Z, Pandey A, Babu A, et al.

Human molecular genetics 2016; (25(16)):3539-3554 doi:10.1093/hmg/ddw198.

Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

Wineland A, Menezes MD, Shimony JS, et al.

JAMA otolaryngology-- head & neck surgery 2017; (143(2)):168-177 doi:10.1001/jamaoto.2016.3175.

Treatment of Congenital Choanal Atresia via Transnasal Endoscopic Method.

Gulşen S, Baysal E, Celenk F, et al.

The Journal of craniofacial surgery 2017; (28(2)):338-342 doi:10.1097/SCS.0000000000003247.

Coronal clival cleft in CHARGE syndrome.

Mahdi E, Whitehead MT

The neuroradiology journal 2017; (30(6)):574-577 doi:10.1177/1971400916678248.

CHARGE syndrome gastrointestinal involvement: from mouth to anus.

Hudson A, Macdonald M, Friedman JN, Blake K

Clinical genetics 2017; (92(1)):10-17 doi:10.1111/cge.12892.

Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K

American journal of medical genetics. Part A 2017; (173(3)):684-691 doi:10.1002/ajmg.a.38085.

A Rare Case of Vascular Ring and Coarctation of the Aorta in Association with CHARGE Syndrome.

Wagner JB, Knowlton JQ, Pastuszko P, Shah SS

Texas Heart Institute journal 2017; (44(2)):138-140 doi:10.14503/THIJ-16-5819.

Experiences in feeding and gastrointestinal dysfunction in children with CHARGE syndrome.

Macdonald M, Hudson A, Bladon A, et al.

American journal of medical genetics. Part A 2017; (173(11)):2947-2953 doi:10.1002/ajmg.a.38458.

Behavior in CHARGE syndrome.

Hartshorne TS, Stratton KK, Brown D, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):431-438 doi:10.1002/ajmg.c.31588.

Gastrointestinal and feeding difficulties in CHARGE syndrome: A review from head-to-toe.

Blake KD, Hudson AS

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):496-506 doi:10.1002/ajmg.c.31586.

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

Legendre M, Abadie V, Attié-Bitach T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):417-430 doi:10.1002/ajmg.c.31591.

Dealing a Neonate with CHARGE Syndrome:Anaesthesia perspective of perioperative care.

Siddiqui KM, Asghar MA, Nadeem A

Pakistan journal of medical sciences 2017; (33(6)):1534-1537 doi:10.12669/pjms.336.13558.

Clival Malformations in CHARGE Syndrome.

Mahdi ES, Whitehead MT

AJNR. American journal of neuroradiology 2018; (39(6)):1153-1156 doi:10.3174/ajnr.A5612.

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related processes.

Bérubé-Simard FA, Pilon N

Transcription 2019; (10(1)):21-28 doi:10.1080/21541264.2018.1521213.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study.

de Geus CM, Bergman JEH, van Ravenswaaij-Arts CMA, Meiners LC

AJNR. American journal of neuroradiology 2018; (39(10)):1938-1942 doi:10.3174/ajnr.A5810.

Prognostic Factors and Management of Patients with Choanal Atresia.

Moreddu E, Rossi ME, Nicollas R, Triglia JM

The Journal of pediatrics 2019; (204()):234-239.e1 doi:10.1016/j.jpeds.2018.08.074.

A novel CHD7 mutation in an adolescent presenting with growth and pubertal delay.

Antoniou MC, Bouthors T, Xu C, et al.

Annals of pediatric endocrinology & metabolism 2019; (24(1)):49-54 doi:10.6065/apem.2019.24.1.49.

Evaluation of gonadotropin-replacement therapy in male patients with hypogonadotropic hypogonadism.

Ortac M, Hidir M, Salabas E, et al.

Asian journal of andrology 2019; (21(6)):623-627 doi:10.4103/aja.aja_6_19.

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X, Yan K, Gao Y, et al.

BMC medical genetics 2019; (20(1)):93 doi:10.1186/s12881-019-0813-z.

Gross motor skill performance in children with and without CHARGE syndrome: Research to practice.

Haibach-Beach P, Perreault M, Foster E, Lieberman L

Research in developmental disabilities 2019; (91()):103423 doi:10.1016/j.ridd.2019.05.002.

Systematic review of cochlear implantation in CHARGE syndrome.

Amin N, Sethukumar P, Pai I, et al.

Cochlear implants international 2019; (20(5)):266-280 doi:10.1080/14670100.2019.1634857.

Auditory Skills following Cochlear Implantation in Children with the Charge Syndrome.

Aragón-Ramos P, Pedrero-Escalas MF, Gavilán J, et al.

Audiology & neuro-otology 2019; (24(3)):139-146 doi:10.1159/000500659.

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes.

Meisner JK, Martin DM

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(1)):81-89 doi:10.1002/ajmg.c.31761.

Phenotypic spectrum of neonatal CHARGE syndrome.

Sánchez N, Hernández M, Cruz JP, Mellado C

Revista chilena de pediatria 2019; (90(5)):533-538 doi:10.32641/rchped.v90i5.1080.

Establishment of an induced pluripotent stem cell line from a patient with CHARGE syndrome carrying a CHD7 (p.L1151Gfs*17) mutation.

He S, Hu J, Zheng Z, et al.

Stem cell research 2020; (45()):101774 doi:10.1016/j.scr.2020.101774.

A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Bedeschi MF, Crippa BL, Colombo L, et al.

Italian journal of pediatrics 2020; (46(1)):53 doi:10.1186/s13052-020-0806-8.

Phenotypic spectrum of typical CHARGE syndrome in a Chinese male neonate: a case report.

Sun Y, Sun J, Li N, et al.

Translational pediatrics 2020; (9(2)):180-186 doi:10.21037/tp.2020.03.09.

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.

Abadie V, Hamiaux P, Ragot S, et al.

Orphanet journal of rare diseases 2020; (15(1)):136 doi:10.1186/s13023-020-01421-9.

CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

Lau CL, Chee YY, Chung BHY, Wong MSR

BMJ case reports 2020; (13(7)) doi:10.1136/bcr-2019-233037.

CHD7 regulates cardiovascular development through ATP-dependent and -independent activities.

Yan S, Thienthanasit R, Chen D, et al.

Proceedings of the National Academy of Sciences of the United States of America 2020; (117(46)):28847-28858 doi:10.1073/pnas.2005222117.

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

Simpson BN, Khattar D, Saal H, et al.

European journal of medical genetics 2021; (64(1)):104103 doi:10.1016/j.ejmg.2020.104103.

Antenatal diagnosis of CHARGE syndrome: Prenatal ultrasound findings and crucial role of fetal dysmorphic signs. About a series of 10 cases and review of literature.

Biard JM, Payrat S, Clapuyt P, et al.

European journal of medical genetics 2021; (64(4)):104189 doi:10.1016/j.ejmg.2021.104189.

Otopathologic Abnormalities in CHARGE Syndrome.

da Costa Monsanto R, Knoll RM, de Oliveira Penido N, et al.

Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2022; (166(2)):363-372 doi:10.1177/01945998211008911.

Advances in Chromodomain Helicase DNA-Binding (CHD) Proteins Regulating Stem Cell Differentiation and Human Diseases.

Liu C, Kang N, Guo Y, Gong P

Frontiers in cell and developmental biology 2021; (9()):710203 doi:10.3389/fcell.2021.710203.

Stenting versus stentless repair for bilateral choanal atresia: A systematic review of the literature.

Gundle L, Ojha S, Hendry J, Rosen H

International journal of pediatric otorhinolaryngology 2021; (151()):110926 doi:10.1016/j.ijporl.2021.110926.

Corifollitropin Alfa Combined With Human Chorionic Gonadotropin in Adolescent Boys With Hypogonadotropic Hypogonadism.

Shankar RR, Shah S, Joeng HK, et al.

The Journal of clinical endocrinology and metabolism 2022; (107(7)):2036-2046 doi:10.1210/clinem/dgac145.

Surgical Management of Choanal Atresia: Two Classic Cases and Review of the Literature.

Rossi NA, Benavidez M, Pine HS, et al.

Cureus 2022; (14(4)):e24259 doi:10.7759/cureus.24259.

Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

Thomas AT, Waite J, Williams CA, et al.

Journal of neurodevelopmental disorders 2022; (14(1)):49 doi:10.1186/s11689-022-09459-5.

Phenotypic variability in RERE-related disorders and the first report of an inherited variant.

Niehaus AD, Kim J, Manning MA

American journal of medical genetics. Part A 2022; (188(11)):3358-3363 doi:10.1002/ajmg.a.62952.

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics.

Guimaraes TAC, Arram E, Shakarchi AF, et al.

The British journal of ophthalmology 2023; (107(10)):1403-1414 doi:10.1136/bjo-2022-321790.

The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.

Lewis MA, Juliano A, Robson C, et al.

Neuroradiology 2023; (65(4)):819-834 doi:10.1007/s00234-023-03118-9.

A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.

Petrov S, Babadzhanova E, Orbetzova M, Ivanov H

Clinical case reports 2023; (11(6)):e7492 doi:10.1002/ccr3.7492.

Detailed analysis of inner ear malformations in CHARGE syndrome patients - correlation with audiological results and proposal for computed tomography scans evaluation methodology.

Szleper A, Lachowska M, Wojciechowski T, Pronicka-Iwanicka K

Brazilian journal of otorhinolaryngology 2024; (90(2)):101383 doi:10.1016/j.bjorl.2023.101383.

Factors that influence performance in pediatric cochlear implant recipients with cochlear nerve deficiency.

Thompson NJ, Park LR, O'Connell BP, et al.

Cochlear implants international 2024; (25(3)):191-196 doi:10.1080/14670100.2024.2316457.

The International Classification of Functioning, Disability and Health (ICF) core sets for deafblindness, part II of the systematic review: linking data to the ICF categories.

Jaiswal A, Paramasivam A, Budhiraja S, et al.

European journal of physical and rehabilitation medicine 2024; (60(5)):893-902 doi:10.23736/S1973-9087.24.07984-X.

Neonatal stridor presents at home - vocal fold paralysis as rare presenting feature of CHARGE syndrome.

Donnell SS, Kraemer MK, Kadakia SM

Case reports in perinatal medicine 2023; (12(1)):20220033 doi:10.1515/crpm-2022-0033.

Development of the International Classification of Functioning, Disability and Health Core Sets for children and youth with deafblindness: protocol for a multistudy collaboration across regions of WHO.

Dumassais S, Wittich W

BMJ open 2025; (15(4)):e100155 doi:10.1136/bmjopen-2025-100155.

[Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2025; (39(5)):396-406 doi:10.13201/j.issn.2096-7993.2025.05.002.

Coronal Clival Cleft in CHARGE Syndrome: Fetal MRI Series.

Teixeira SR, Cerron-Vela C, Khalek N, et al.

AJNR. American journal of neuroradiology 2025; (46(5)):1022-1028 doi:10.3174/ajnr.A8609.

Phoneme discrimination and localization performance in children with cochlear implants and contralateral auditory brainstem implants with inner ear malformations.

Uzun ED, Batuk MO, Sennaroglu G, Sennaroglu L

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2025; (282(11)):5581-5595 doi:10.1007/s00405-025-09474-x.

Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study.

Castro S, Ng Yin K, d'Aniello F, et al.

Human reproduction open 2025; (2025(2)):hoaf026 doi:10.1093/hropen/hoaf026.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

El Ouassifi K, Douami A, Ouair H, et al.

Cureus 2025; (17(5)):e84181 doi:10.7759/cureus.84181.

Comparison of FSH Pre-treatment Versus Upfront hCG and FSH Regimens for Inducing Spermatogenesis in Congenital Hypogonadotropic Hypogonadism: A Pilot Study.

Kaur J, Singhania N, Adhikari U, et al.

Indian journal of endocrinology and metabolism 2025; (29(3)):332-336 doi:10.4103/ijem.ijem_307_24.

Stented and non-stented endoscopic techniques in bilateral choanal atresia repair: A systematic review and meta-analysis.

Chowdhury R, Almutawa D, Almutairi NK, et al.

International journal of pediatric otorhinolaryngology 2025; (196()):112494 doi:10.1016/j.ijporl.2025.112494.

A Systematic Review of Intraoperative X-Ray Images in Cochlear Implant.

Abbasi Z, Khoshsirat S, Khajavi M

Ear, nose, & throat journal 2025; 1455613251366053 doi:10.1177/01455613251366053.

Esophageal Atresia and Intrathoracic Stomach in a Complex Case of Congenital Anomalies.

Köhler PC, Staubach R, Glosse H, et al.

Children (Basel, Switzerland) 2025; (12(9)) doi:10.3390/children12091244.

Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome.

Blake K, Morrison J, Burge L, et al.

American journal of medical genetics. Part A 2026; (200(2)):419-425 doi:10.1002/ajmg.a.64273.

Lacrimal drainage system involvement in CHARGE syndrome: a two-case report.

Alnuman R, Alhumaid F, Diab MM

Orbit (Amsterdam, Netherlands) 2026; (45(3)):456-460 doi:10.1080/01676830.2026.2632699.