Publications by authors named "Conny van Ravenswaaij-Arts"

96Publications

A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin.

Eur J Med Genet 2020 Jun 30;63(6):103922. Epub 2020 Mar 30.

University of Groningen, University Medical Center Groningen, Dept. of Genetics, Groningen, the Netherlands. Electronic address:

View Article and Find Full Text PDF
June 2020

Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach.

J Multidiscip Healthc 2019 1;12:607-620. Epub 2019 Aug 1.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
August 2019

An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.

Am J Med Genet A 2019 08 27;179(8):1459-1465. Epub 2019 May 27.

Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.

View Article and Find Full Text PDF
August 2019

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Neurology 2019 01 12;92(2):e96-e107. Epub 2018 Dec 12.

From the Epilepsy Research Centre (D.R.M.V., B.J.S., R.B., M.F.B., S.F.B., M.S.H., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Departments of Genetics (D.R.M.V., C.M.A.v.R.-A.) and Neurology (D.R.M.V.), University Medical Center Groningen, University of Groningen, the Netherlands; Pediatric Neurology Unit and Laboratories (D.M., M.M.) and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, A. Meyer Children's Hospital, University of Florence, Italy; Department of Pediatrics and Pediatric Epilepsy Centre (H.X., W.X.W., Y.J.), Peking University First Hospital, Beijing, China; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Population Health and Immunity Division (M.F.B.), Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; Department of Medical Biology (M.F.B.), University of Melbourne, Australia; Caulfield (D.W.), Melbourne, Australia; Department of Clinical Genetics (S.M.M.), Academic Medical Centre, Amsterdam, the Netherlands; Department of Clinical Genetics (A.S.B., G.M.S.M., I.M.B.H.v.d.L.), Erasmus University Medical Centre, Rotterdam, the Netherlands; Department of Clinical Genetics (J.M.v.H.), VU University Medical Center, Amsterdam, the Netherlands; Tasmanian Health Service (T.L.W.), Women's and Children's Services, Launceston General Hospital, Tasmania, Australia; TY Nelson Department of Neurology and Neurosurgery (R.I.W.) and Institute of Neuroscience and Muscle Research (R.I.W.), Children's Hospital at Westmead, Sydney, Australia; Department of Neurosciences (S.M.), Lady Cilento Children's Hospital, Brisbane, Australia; Department of Anatomical Pathology (R.M.K.), Austin Hospital, Melbourne, Australia; IRCCS Stella Maris Foundation (F.S., R.G.), Pisa, Italy; Klinikum Oldenburg (G.C.K.), Zentrum für Kinder-und Jugendmedizin, Klinik für Neuropädiatrie u. angeborene Stoffwechselerkrankungen, Oldenburg, Germany; Centre of Epilepsy (Y.J.), Beijing Institute for Brain Disorders, China; Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia; and Florey Institute of Neurosciences and Mental Health (I.E.S.), Parkville, Australia.

View Article and Find Full Text PDF
January 2019

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Am J Hum Genet 2018 07 28;103(1):144-153. Epub 2018 Jun 28.

NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address:

View Article and Find Full Text PDF
July 2018

Copy number variation in a hospital-based cohort of children with epilepsy.

Epilepsia Open 2017 06 8;2(2):244-254. Epub 2017 May 8.

Department of Genetics University Medical Center Groningen University of Groningen Groningen the Netherlands.

View Article and Find Full Text PDF
June 2017

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries.

Am J Med Genet C Semin Med Genet 2017 12 24;175(4):397-406. Epub 2017 Nov 24.

Departments of Human Genetics, The University of Michigan Medical School, Ann Arbor, Michigan.

View Article and Find Full Text PDF
December 2017

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

Am J Med Genet C Semin Med Genet 2017 12 23;175(4):450-464. Epub 2017 Nov 23.

University of Groningen, University Medical Center Groningen, Center of Expertise for CHARGE syndrome, Groningen, The Netherlands.

View Article and Find Full Text PDF
December 2017

Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity.

Int J Cardiol Heart Vasc 2016 Sep 25;12:21-25. Epub 2016 May 25.

Pediatric Cardiology, Dana-Dwek Children's Hospital, Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel.

View Article and Find Full Text PDF
September 2016

Support for the Diagnosis of CHARGE Syndrome.

JAMA Otolaryngol Head Neck Surg 2017 06;143(6):634-635

Departments of Pediatrics and Communicable Diseases and of Human Genetics, University of Michigan Medical School, Ann Arbor.

View Article and Find Full Text PDF
June 2017

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

Am J Med Genet A 2017 Mar 4;173(3):684-691. Epub 2017 Feb 4.

Department of Pediatrics, IWK Health Center, Dalhousie University, Nova Scotia, Canada.

View Article and Find Full Text PDF
March 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article and Find Full Text PDF
January 2017

Suggestions for a Guideline for Cochlear Implantation in CHARGE Syndrome.

Otol Neurotol 2016 10;37(9):1275-83

*Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen†Department of Otorhinolaryngology‡Department of Genetics, University Medical Center Groningen, University of Groningen, The Netherlands.

View Article and Find Full Text PDF
October 2016

Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts.

J Pediatr 2016 09 16;176:150-5. Epub 2016 Jun 16.

Department of Pediatrics, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
September 2016

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

Am J Med Genet A 2016 08 4;170(8):2022-30. Epub 2016 May 4.

Department of ENT, Radboud University Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF
August 2016

Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children.

J Neurodev Disord 2016 26;8:16. Epub 2016 Apr 26.

University of Groningen, University Medical Center Groningen, Department of Genetics, Hanzeplein 1, 9713 GZ Groningen, The Netherlands.

View Article and Find Full Text PDF
April 2016

Duplication 2p25 in a child with clinical features of CHARGE syndrome.

Am J Med Genet A 2016 May 6;170A(5):1148-54. Epub 2016 Feb 6.

Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan.

View Article and Find Full Text PDF
May 2016

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

Eur J Paediatr Neurol 2016 May 8;20(3):489-92. Epub 2016 Jan 8.

University of Groningen, University Medical Centre Groningen, Department of Neurology, Groningen, The Netherlands.

View Article and Find Full Text PDF
May 2016

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

View Article and Find Full Text PDF
August 2016

A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).

Eur J Med Genet 2015 Dec 6;58(12):642-9. Epub 2015 Nov 6.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address:

View Article and Find Full Text PDF
December 2015

Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study.

PLoS One 2015 6;10(11):e0142350. Epub 2015 Nov 6.

University of Groningen, University Medical Centre Groningen, Beatrix Children's Hospital, Department of Paediatrics, Infectious Diseases and Immunology section, Groningen, The Netherlands.

View Article and Find Full Text PDF
June 2016

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome.

Trends Genet 2015 Oct 24;31(10):600-611. Epub 2015 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, PO Box 30.001, 9700RB Groningen, The Netherlands.

View Article and Find Full Text PDF
October 2015

Clinical utility gene card for: CHARGE syndrome - update 2015.

Eur J Hum Genet 2015 Nov 18;23(11). Epub 2015 Feb 18.

Department of Medical Genetics, APHP-Robert DEBRE University Hospital, Paris, France.

View Article and Find Full Text PDF
November 2015

CHARGE syndrome: a review of the immunological aspects.

Eur J Hum Genet 2015 Nov 18;23(11):1451-9. Epub 2015 Feb 18.

University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands.

View Article and Find Full Text PDF
November 2015

A stepped wedge design for testing an effect of intranasal insulin on cognitive development of children with Phelan-McDermid syndrome: A comparison of different designs.

Stat Methods Med Res 2017 04 19;26(2):766-775. Epub 2014 Nov 19.

3 Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
April 2017

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects.

Am J Med Genet A 2014 Dec 24;164A(12):3003-9. Epub 2014 Sep 24.

University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.

View Article and Find Full Text PDF
December 2014

Can Characteristics of Reciprocal Translocations Predict the Chance of Transferable Embryos in PGD Cycles?

J Clin Med 2014 Apr 2;3(2):348-58. Epub 2014 Apr 2.

Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, GZ Groningen 9713, The Netherlands.

View Article and Find Full Text PDF
April 2014

Deregulated FGF and homeotic gene expression underlies cerebellar vermis hypoplasia in CHARGE syndrome.

Elife 2013 Dec 24;2:e01305. Epub 2013 Dec 24.

Department of Craniofacial Development and Stem Cell Biology, King's College London, London, United Kingdom.

View Article and Find Full Text PDF
December 2013

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Eur J Hum Genet 2014 Feb 14;22(2):160-70. Epub 2013 Aug 14.

National Centre for Medical Genetics, School of Medicine & Medical Sciences, University College Dublin, Our Lady's Children's Hospital, Dublin, Ireland.

View Article and Find Full Text PDF
February 2014

Mutation update on the CHD7 gene involved in CHARGE syndrome.

Hum Mutat 2012 Aug 16;33(8):1149-60. Epub 2012 Apr 16.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
August 2012

The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome.

J Clin Endocrinol Metab 2012 May 7;97(5):E858-62. Epub 2012 Mar 7.

Department of Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

View Article and Find Full Text PDF
May 2012

Clinical utility gene card for: CHARGE syndrome.

Eur J Hum Genet 2011 Sep 16;19(9). Epub 2011 Mar 16.

Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.

View Article and Find Full Text PDF
September 2011

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

J Pediatr 2011 Mar;158(3):474-9

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.

View Article and Find Full Text PDF
March 2011

Prevalence of genetic testing in CHARGE syndrome.

J Genet Couns 2011 Feb 28;20(1):49-57. Epub 2010 Sep 28.

Central Michigan University, Mount Pleasant, MI, USA.

View Article and Find Full Text PDF
February 2011

Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion.

Eur J Med Genet 2010 Sep-Oct;53(5):344-6. Epub 2010 May 27.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
January 2011

The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies.

Eur J Med Genet 2010 Jan-Feb;53(1):40-4. Epub 2009 Oct 28.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
April 2010

Study of smell and reproductive organs in a mouse model for CHARGE syndrome.

Eur J Hum Genet 2010 Feb 7;18(2):171-7. Epub 2009 Oct 7.

Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF
February 2010

A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female.

Eur J Med Genet 2009 Mar-Jun;52(2-3):157-60. Epub 2009 Mar 6.

Department of Genetics, University Medical Centre Groningen, University of Groningen, The Netherlands.

View Article and Find Full Text PDF
September 2009

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

Eur J Med Genet 2008 Nov-Dec;51(6):511-9. Epub 2008 Jul 19.

Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

View Article and Find Full Text PDF
March 2009

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome.

Eur J Med Genet 2008 Sep-Oct;51(5):417-25. Epub 2008 Apr 4.

Department of Genetics, University Medical Center Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.

View Article and Find Full Text PDF
November 2008

Congenital aural atresia in 18q deletion or de Grouchy syndrome.

Otol Neurotol 2003 Nov;24(6):900-6

Department of Human Genetics, University Medical Center Nijmegen, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands.

View Article and Find Full Text PDF
November 2003