Publications on CHARGE syndrome

News

2014: NVAVG and Platform VG guidelines on "T he medical care of people with CHARGE syndrome. Information and advice for physicians, general practitioners and dentists ",  available here

Feb. 2014: The cause of brain defects in CHARGE syndrome identified.

Papers

Clinical utility gene card for: CHARGE syndrome - update 2015.
Van Ravenswaaij-Arts CM, Blake K, Hoefsloot L, Verloes A.
Eur J Hum Genet. 2015 Feb 18. doi: 10.1038/ejhg.2015.15.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.
Corsten-Janssen N, Saitta SC, Hoefsloot LH, McDonald-McGinn DM, Driscoll DA, Derks R, Dickinson KA, Kerstjens-Frederikse WS, Emanuel BS, Zackai EH, vanRavenswaaij-Arts CM.
Mol Syndromol. 2013 Jun;4(5):235-45. doi: 10.1159/000351127. Free PMC Article

The cardiac phenotype in patients with a CHD7 mutation
Corsten-Janssen N, Kerstjens-Frederikse WS, du Marchie Sarvaas GJ, Baardman ME, Bakker MK, Bergman JEH, Hove HD, Heimdal KR, Rustad CF, Hennekam RCM, Hofstra RMW, Hoefsloot LH, van Ravenswaaij-Arts CMA, Kapusta L
Circ Cardiovasc Genet. 2013;6:248-254

Molecular genetics of CHARGE syndrome ( Abstract & key concepts)
Van Ravenswaaij-Arts CMA, Hoefsloot LH
Nov 2012. In: eLS. John Wiley & Sons, Ltd: Chichester. DOI: 10.1002/9780470015902.a0024289.

Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes
Hoefsloot LH, Corsten-Janssen N, van Ravenswaaij-arts CM
Expert Rev. Mol. Diagn. 2012;12(8), 795–797

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome
Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM.
Hum Mutat. 2012 Aug;33(8):1251-60.

Mutation update on the CHD7 gene involved in CHARGE syndrome
Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH.
Hum Mutat. 2012 Aug;33(8):1149-60. Abstract

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome
Bergman JEH, de Ronde W, JongmansMCJ, Wolffenbuttel BHR, Drop SLS, Hermus A, Bocca G, Hoefsloot LH,van Ravenswaaij-Arts CMA.
J Clin Endocrinol Metab. 2012;97(5):E858-62.

CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
Batsukh T, Pieper L, Koszucka AM, von Velsen N, Hoyer-Fender S, Elbracht M, Bergman JE, Hoefsloot LH, Pauli S.
Hum Mol Genet 2012;19:2858-2866

CHARGE syndrome: molecular diagnosis, clinical aspects and its overlap with Kallmann syndrome
Van Kammen-Bergman JEH.
PhD thesis, University of Groningen, 2 November 2011

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
Bergman JEH, Janssen N, Jongmans M, Hoefsloot LH, van Ravenswaaij-Arts CMA.
J Med Genet 2011; 48(5):334-342

Clinical utility gene card for: CHARGE syndrome
Blake K, van Ravenswaaij-Arts CMA, Hoefsloot L, Verloes A.
Eur J Hum Genet 2011;19(9):1016 / 2011:e1-e3 full text

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
Bergman JEH, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CMA.
J Pediatr 2011;158(3):474-479

Prevalence of genetic testing in CHARGE syndrome
Hartshorne TS, Stratton KK, van Ravennswaaij-Arts CMA.
J of Genet Counsel 2011;20:49-57

Death in CHARGE syndrome after the neonatal period: a report of seven patients and review of the literature
Bergman JEH, Blake KD, Bakker MK, Free RH, van Ravenswaaij-Arts CMA.
Clin Genet 2010;77(3):232-240

Study of smell and reproductive organs in a mouse model for CHARGE syndrome
Bergman JEH, Bosman EA, van Ravenswaaij-Arts CMA, Steel KP.
Eur J Hum Genet 2010;18(2):171-177

Parenting stress in CHARGE syndrome and the relationship with child characteristcs.
Wulffaert J, Scholte EM, Dijkxhoorn YM, Bergman JEH, van Ravenswaaij-Arts CMA, van Berckelaer-Onnes IA.
J Dev Phys Disabil. 2009;21(4):301-313

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
Jongmans MCJ, van Ravenswaaij-Arts CMA, Pitteloud N, Ogata T, Sato N, Claahsenvan der Grinten HL, van der Donk K, Seminara S, Bergman JEH, Brunner HG, Crowley Jr WF, Hoefsloot LH.
Clin Genet 2009;75(1):65-71

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.
Bergman JEH, de Wijs I, Jongmans MCJ, Admiraal RJ, Hoefsloot LH, van Ravenswaaij-Arts CMA.
Eur J Med Genet 2008;51(45):417-425

CHARGE syndrome: Relations between behavioral characteristics and medical conditions.
Vervloed MPJ, Hoevenaars-van den Boom MAA, Knoors H, van Ravenswaaij CMA, Admiraal RJC.
Am J Med Genet A 2006;140A(8):851-862

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Jongmans MCJ, Admiraal RJ, van der Donk KP, Vissers LELM, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, de Vries BBA, Brunner HG, Hoefsloot LH, van Ravenswaaij CMA.
J Med Genet 2006;43(4):306-314

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Vissers LELM, van Ravenswaaij CMA, Admiraal R, Hurst JA, de Vries BBA, Janssen IM, van der Vliet WA, Huys EHLPG, de Jong PJ, Hamel BCJ, Schoenmakers EFPM, Brunner HG, Veltman JA, Geurts van Kessel A.
Nat Genet 2004;36(9):955-957