C. V. van Ravenswaaij-Arts

发表

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

J. Shendure, J. Rosenfeld, B. V. van Bon, 2012, Nature Genetics.

H. V. van Geijn, C. V. van Ravenswaaij-Arts, L. Kollée, 1993, Annals of Internal Medicine.

A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature.

K. Kok, C. V. van Ravenswaaij-Arts, M. Boeve, 2009, European journal of medical genetics.

Towards a European consensus for reporting incidental findings during clinical NGS testing

Gabrielle M. Christenhusz, Peter N. Robinson, J. Hehir-Kwa, 2015, European Journal of Human Genetics.

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

Borut Peterlin, David E Barton, Jayne Y Hehir-Kwa, 2013, European Journal of Human Genetics.

MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions

C. V. van Ravenswaaij-Arts, E. Smeets, S. Stevens, 2011, American journal of medical genetics. Part A.

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

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2017, Epilepsia open.

Diagnostic genome profiling in mental retardation.

Ton Feuth, Martijn A. R. Leisink, Erik A Sistermans, 2005, American journal of human genetics.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, Molecular Syndromology.

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Birgit Sikkema-Raddatz, Morris A Swertz, Yvonne J Vos, 2019, Nature Communications.

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Birgit Sikkema-Raddatz, Kristin M. Abbott, Morris A. Swertz, 2018, Nature Communications.

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

Edwin Cuppen, Claire Redin, Ryan L. Collins, 2016, Nature Genetics.

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

C. V. van Ravenswaaij-Arts, A. Garg, H. K. Ploos van Amstel, 2021, The Journal of clinical endocrinology and metabolism.

Cerebellar Vermis and Midbrain Hypoplasia Upon Conditional Deletion of Chd7 from the Embryonic Mid-Hindbrain Region

J. Lerch, J. Ellegood, M. Basson, 2017, Front. Neuroanat..

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.

L. Vissers, R. Pfundt, C. Cremers, 2011, American journal of human genetics.

Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer.

L. Vreede, R. Kuiper, C. V. van Ravenswaaij-Arts, 2013, Gastroenterology.

3p14 deletion is a rare contiguous gene syndrome: Report of 2 new patients and an overview of 14 patients

D. Wieczorek, C. V. van Ravenswaaij-Arts, B. Sikkema-Raddatz, 2015, American journal of medical genetics. Part A.

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

L. Looijenga, M. Kempers, C. V. van Ravenswaaij-Arts, 2020, Journal of Medical Genetics.

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

R. Pfundt, M. Reijnders, J. Gécz, 2016, American journal of human genetics.

Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature

N. de Leeuw, T. Kleefstra, C. V. van Ravenswaaij-Arts, 2010, American journal of medical genetics. Part A.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

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

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

E. R. van den Heuvel, C. V. van Ravenswaaij-Arts, R. J. Zwanenburg, 2017, Statistical methods in medical research.

Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities.

N. de Leeuw, D. Weghuis, C. V. van Ravenswaaij-Arts, 2008, European journal of medical genetics.

Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach

C. V. van Ravenswaaij-Arts, G. Bocca, D. R. Dijk, 2019, Journal of multidisciplinary healthcare.

The phenotypic spectrum of Schaaf-Yang syndrome – 18 new affected individuals from 14 families

J. Rosenfeld, A. Hamosh, Yaping Yang, 2016, Genetics in Medicine.

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

B. D. de Vries, M. P. van den Berg, Patrick Deelen, 2021, European Journal of Human Genetics.

Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes

M. Hurles, C. Lelliott, B. Yalcin, 2022, bioRxiv.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

P. Marynen, T. Bose, M. Roselló, 2012, American journal of human genetics.

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

E. R. van den Heuvel, C. V. van Ravenswaaij-Arts, B. Flapper, 2016, Journal of Neurodevelopmental Disorders.

Central 22q11.2 deletions

N. de Leeuw, W. Reardon, D. Lev, 2014, American journal of medical genetics. Part A.

SYNGAP1 encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2018, Neurology.

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

R. Pfundt, B. D. de Vries, M. Shinawi, 2021, Genetics in Medicine.

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

C. V. van Ravenswaaij-Arts, T. Frebourg, S. Coutant, 2020, Human mutation.

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

C. V. van Ravenswaaij-Arts, L. Zimmermann, W. Gerver, 2019, American journal of medical genetics. Part A.

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

C. V. van Ravenswaaij-Arts, K. Blake, Carrie-Lee Trider, 2017, American journal of medical genetics. Part A.

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

A. Snik, E. Mylanus, C. V. van Ravenswaaij-Arts, 2016, American journal of medical genetics. Part A.

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

D. M. Martin, C. V. van Ravenswaaij-Arts, G. Green, 2016, American journal of medical genetics. Part A.

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

C. V. van Ravenswaaij-Arts, C. Munns, S. Mehr, 2016, The Journal of pediatrics.

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

L. Hoefsloot, C. V. van Ravenswaaij-Arts, G. J. du Marchie Sarvaas, 2014, American journal of medical genetics. Part A.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

R. Pfundt, M. Fichera, C. Romano, 2014, American journal of medical genetics. Part A.

Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics

C. V. van Ravenswaaij-Arts, J. Bergman, E. Scholte, 2009, Journal of developmental and physical disabilities.

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

L. Hoefsloot, C. V. van Ravenswaaij-Arts, M. Jongmans, 2008, European journal of medical genetics.

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

R. Pfundt, B. D. de Vries, J. Veltman, 2008, American journal of medical genetics. Part A.

Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis

C. V. van Ravenswaaij-Arts, M. Cunningham, Jonas A Gustafson, 2022, Case reports in genetics.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

K. Devriendt, A. Coppola, J. Vermeesch, 2017, European Journal of Human Genetics.

Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, J. Land, 2012, Human reproduction.

The role of TBX18 in congenital heart defects in humans not confirmed

C. V. van Ravenswaaij-Arts, K. Abbott, W. S. Kerstjens-Frederikse, 2022, European Journal of Human Genetics.

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

N. de Leeuw, C. V. van Ravenswaaij-Arts, T. Dijkhuizen, 2009, European journal of medical genetics.

Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2

O. Patat, N. Chassaing, C. V. van Ravenswaaij-Arts, 2013, Molecular Syndromology.

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

L. Meiners, C. V. van Ravenswaaij-Arts, D. Sival, 2010, European journal of medical genetics.

CT findings of the temporal bone in CHARGE syndrome: aspects of importance in cochlear implant surgery

E. Mylanus, C. V. van Ravenswaaij-Arts, B. Verbist, 2016, European Archives of Oto-Rhino-Laryngology.

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

R. Pfundt, T. Strom, H. Brunner, 2016, Nature Genetics.

Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD.

C. V. van Ravenswaaij-Arts, C. D. de Die-Smulders, E. Coonen, 2015, Human reproduction.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

Chromosomal abnormalities in 1663 infertile men with azoospermia: the clinical consequences

C. V. van Ravenswaaij-Arts, H. Tournaye, H. Groen, 2017, Human reproduction.

Who should be screened for chromosomal abnormalities before ICSI treatment?

C. V. van Ravenswaaij-Arts, H. Groen, J. Land, 2010, Human reproduction.

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

R. Sinke, Jianguo Zhang, C. V. van Ravenswaaij-Arts, 2015, European journal of medical genetics.

The prevalence of chromosomal abnormalities in subgroups of infertile men.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, J. Land, 2012, Human reproduction.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

John Hutson, Alicia Oshlack, Tiong Yang Tan, 2016, Genome Biology.

Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis.

C. V. van Ravenswaaij-Arts, E. Coonen, R. Suijkerbuijk, 2013, Human reproduction.

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

C. V. van Ravenswaaij-Arts, E. Coonen, H. Groen, 2014, Journal of clinical medicine.

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

R. Pfundt, A. Fasano, A. Lozano, 2021, EMBO molecular medicine.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

K. Kok, C. V. van Ravenswaaij-Arts, M. Breuning, 2009, European journal of medical genetics.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Ton Feuth, Kazutoyo Osoegawa, Han G Brunner, 2003, American journal of human genetics.

Mutation update on the CHD7 gene involved in CHARGE syndrome

M. Swertz, L. Hoefsloot, R. Hofstra, 2012, Human mutation.

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

M. Swertz, R. Sinke, B. Alizadeh, 2015, BMC Medical Genomics.

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

B. V. van Bon, R. Pfundt, B. D. de Vries, 2010, Journal of Medical Genetics.

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, N. Corsten-Janssen, 2022, Orphanet Journal of Rare Diseases.

Sema3a plays a role in the pathogenesis of CHARGE syndrome

C. V. van Ravenswaaij-Arts, A. Tzschach, C. Neuhofer, 2018, Human molecular genetics.

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

D. M. Martin, C. V. van Ravenswaaij-Arts, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Functional Insights into Chromatin Remodelling from Studies on CHARGE Syndrome

M. Basson, C. V. van Ravenswaaij-Arts, 2015, Trends in genetics : TIG.

CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype

R. Hofstra, L. Hoefsloot, R. Hofstra, 2011, Journal of Medical Genetics.

Telomeres: a diagnosis at the end of the chromosomes

B. D. de Vries, C. V. van Ravenswaaij-Arts, A. Schinzel, 2003, Journal of medical genetics.

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

R. Pfundt, H. Peeters, D. Horn, 2016, American journal of medical genetics. Part A.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

L. Hoefsloot, R. Hofstra, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, E. Brilstra, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

C. V. van Ravenswaaij-Arts, B. Sikkema-Raddatz, T. Dijkhuizen, 2009, European journal of medical genetics.

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt–Hopkins syndrome

H. Ropers, C. V. van Ravenswaaij-Arts, D. Smeets, 2008, American journal of medical genetics. Part A.

The introduction of arrays in prenatal diagnosis: A special challenge

D. Ledbetter, J. Vermeesch, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.

J. Veltman, J. Vermeesch, I. Janssen, 2003, American journal of human genetics.

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux.

S. Mundlos, G. Mortier, Y. Crow, 2004, American journal of human genetics.

The Cardiac Phenotype in Patients With a CHD7 Mutation

K. Heimdal, R. Hennekam, L. Hoefsloot, 2013, Circulation. Cardiovascular genetics.

Genotype–phenotype mapping of chromosome 18q deletions by high‐resolution array CGH: An update of the phenotypic map

J. Veltman, H. Brunner, A. V. van Kessel, 2007, American journal of medical genetics. Part A.

An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2.

C. V. van Ravenswaaij-Arts, T. Dijkhuizen, P. A. van der Zwaag, 2010, European journal of medical genetics.

Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: a comparison with autism spectrum disorder

S. van Rijn, C. V. van Ravenswaaij-Arts, H. Swaab, 2014, Genes, brain, and behavior.

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.

T. Bourgeron, R. Delorme, T. Rolland, 2023, European journal of medical genetics.

Guidelines in CHARGE syndrome and the missing link: Cranial imaging

L. Meiners, C. V. van Ravenswaaij-Arts, D. Sival, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Diagnostic interpretation of array data using public databases and internet sources

L. Feuk, N. Carter, N. de Leeuw, 2012, Human mutation.

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

M. Swertz, R. Sinke, J. Karjalainen, 2019, Nature Communications.

CHARGE syndrome and related disorders: A mechanistic link.

C. V. van Ravenswaaij-Arts, Roser Ufartes, G. Salinas, 2021, Human molecular genetics.

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

D. Reinberg, P. Scambler, M. A. Basson, 2013, eLife.

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

E. Zackai, L. Hoefsloot, B. Emanuel, 2013, Molecular Syndromology.

Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome.

L. Hoefsloot, L. Meiners, C. V. van Ravenswaaij-Arts, 2011, The Journal of pediatrics.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

S. Antonarakis, S. Gimelli, F. Béna, 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

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

C. V. van Ravenswaaij-Arts, R. Suijkerbuijk, M. McGregor-Schuerman, 2020, European journal of medical genetics.

Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines

C. V. van Ravenswaaij-Arts, H. K. V. van Amstel, A. van den Wijngaard, 2019, Orphanet Journal of Rare Diseases.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

M. Swertz, C. V. van Ravenswaaij-Arts, T. Dijkhuizen, 2022, Orphanet Journal of Rare Diseases.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms

R. Pfundt, T. Kleefstra, C. V. van Ravenswaaij-Arts, 2018, Clinical genetics.

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

C. V. van Ravenswaaij-Arts, A. Verloes, L. Faivre, 2020, Clinical genetics.

Rapid Targeted Genomics in Critically Ill Newborns

Birgit Sikkema-Raddatz, Pieter B. T. Neerincx, Morris A Swertz, 2017, Pediatrics.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

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

L. Hoefsloot, B. Wolffenbuttel, C. V. van Ravenswaaij-Arts, 2012, The Journal of clinical endocrinology and metabolism.

L. Feuk, B. V. van Bon, R. Pfundt, 2021, Genetics in Medicine.

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

C. V. van Ravenswaaij-Arts, L. Kapusta, N. Corsten-Janssen, 2016, International journal of cardiology. Heart & vasculature.

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

M. van der Burg, C. V. van Ravenswaaij-Arts, S. la Bastide-van Gemert, 2015, PloS one.

MISINTERPRETATION OF TRISOMY 18 AS A PSEUDOMOSAICISM AT THIRD‐TRIMESTER AMNIOCENTESIS OF A CHILD WITH A MOSAIC 46,XY/47,XY,+3/48,XXY,+18 KARYOTYPE

C. V. van Ravenswaaij-Arts, D. Smeets, J. Nijhuis, 1997, Prenatal diagnosis.

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

J. Ganesh, P. Robinson, S. Mundlos, 2015, American journal of human genetics.

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

C. V. van Ravenswaaij-Arts, D. Smeets, A. F. van der Kevie-Kersemaekers, 2010, European journal of medical genetics.

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

K. Steel, C. V. van Ravenswaaij-Arts, J. Bergman, 2009, European Journal of Human Genetics.

Craniosynostosis associated with ectopia lentis in monozygotic twin sisters.

J. Cruysberg, H. Brunner, C. V. van Ravenswaaij-Arts, 1999, American journal of medical genetics.

Phelan-McDermid syndrome: a classification system after 30 years of experience

W. E. Bennett, T. Bourgeron, T. Boeckers, 2022, Orphanet Journal of Rare Diseases.

Dysmorphology and mental retardation: molecular cytogenetic studies in dysmorphic mentally retarded patients.

H. Brunner, J. Fryns, C. V. van Ravenswaaij-Arts, 2001, Annales de genetique.

Emerging microdeletion and microduplication syndromes; the counseling paradigm.

T. Kleefstra, C. V. van Ravenswaaij-Arts, 2009, European journal of medical genetics.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

T. Bourgeron, R. Hennekam, C. V. van Ravenswaaij-Arts, 2023, European journal of medical genetics.

Understanding Behavior in Phelan-McDermid Syndrome

C. V. van Ravenswaaij-Arts, B. Flapper, L. Visser, 2022, Frontiers in Psychiatry.

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome.

C. V. van Ravenswaaij-Arts, S. Jesse, M. Bonaglia, 2023, European journal of medical genetics.

Dynamics of vasomotor thermoregulation of the skin in term and preterm neonates.

C. V. van Ravenswaaij-Arts, J. Jalonen, I. Välimäki, 1993, Early human development.

Influences on heart rate variability in spontaneously breathing preterm infants.

H. van Geijn, C. V. van Ravenswaaij-Arts, J. Hopman, 1991, Early human development.

The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

S. van Rijn, C. V. van Ravenswaaij-Arts, K. Hansson, 2013, Journal of Autism and Developmental Disorders.

The del(2)(q32.2q33) deletion syndrome defined by clinical and molecular characterization of four patients.

J. Vermeesch, J. Fryns, C. V. van Ravenswaaij-Arts, 2005, European journal of medical genetics.

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

L. Meiners, C. V. van Ravenswaaij-Arts, A. Lin, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial

E. R. van den Heuvel, C. V. van Ravenswaaij-Arts, B. Flapper, 2016, European Journal of Human Genetics.

Support for the Diagnosis of CHARGE Syndrome.

C. V. van Ravenswaaij-Arts, K. Blake, Donna M. Martin, 2017, JAMA Otolaryngology - Head and Neck Surgery.

Congenital Aural Atresia in 18q Deletion or de Grouchy Syndrome

C. Cremers, C. V. van Ravenswaaij-Arts, D. Smeets, 2003, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

M. Swertz, C. V. van Ravenswaaij-Arts, A. Ranchor, 2022, Orphanet Journal of Rare Diseases.

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

C. V. van Ravenswaaij-Arts, E. Coonen, H. Groen, 2014, Journal of clinical medicine.

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

L. Meiners, C. V. van Ravenswaaij-Arts, D. Sival, 2010, European journal of medical genetics.

The influence of physiological parameters on long term heart rate variability in healthy preterm infants

C. V. van Ravenswaaij-Arts, J. Hopman, G. Stoelinga, 1990, Journal of perinatal medicine.

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

M. Hurles, C. Lelliott, B. Yalcin, 2023, Brain : a journal of neurology.

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

J. Gécz, A. Sinclair, C. Kimber, 2016, Genome Biology.