I. van der Burgt

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Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, Nature Neuroscience.

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

R. Pfundt, M. Reijnders, B. D. de Vries, 2017, American journal of human genetics.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Bruce D Gelb, Andrew Crosby, Han G Brunner, 2002, American journal of human genetics.

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

M. Patton, A. Shaw, B. Gelb, 2004, American journal of human genetics.

Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature

M. Patton, M. Tartaglia, R. Tamminga, 2005, American journal of medical genetics. Part A.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Top-down or bottom-up: Contrasting perspectives on psychiatric diagnoses

S. Tuinier, W. Verhoeven, I. van der Burgt, 2008, Biologics : targets & therapy.

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

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

First‐year growth in children with Noonan syndrome: Associated with feeding problems?

N. Roeleveld, C. Noordam, J. Draaisma, 2018, American journal of medical genetics. Part A.

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

A. Snik, E. Mylanus, J. Draaisma, 2017, International journal of pediatric otorhinolaryngology.

Noonan syndrome

I. van der Burgt, 2007, Orphanet journal of rare diseases.

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

M. Loh, A. Carè, H. Cavé, 2014, Human molecular genetics.

SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome

D. Horn, S. Mundlos, J. Allanson, 2007, Journal of Medical Genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

J. den Hertog, B. Burgering, J. Overvoorde, 2011, Disease Models & Mechanisms.

PORCN mutations in focal dermal hypoplasia: coping with lethality

K. Grzeschik, K. Prescott, R. Happle, 2009, Human Mutation.

A 2‐bp deletion in the GJA1 gene is associated with oculo‐dento‐digital dysplasia with palmoplantar keratoderma

M. Geel, P. Steijlen, I. van der Burgt, 2005, American journal of medical genetics. Part A.

Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients

J. Cruysberg, C. Noordam, J. Draaisma, 2018, European Journal of Pediatrics.

External ear anomalies and hearing impairment in Noonan Syndrome.

J. Draaisma, I. van der Burgt, Dorothée C van Trier, 2015, International journal of pediatric otorhinolaryngology.

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

H. Scheffer, W. Nillesen, H. Yntema, 2013, Molecular Syndromology.

Mutation and phenotypic spectrum in patients with cardio‐facio‐cutaneous and Costello syndrome

D. Horn, S. Uhrig, B. Tüysüz, 2007, Clinical genetics.

Electrocardiography in Noonan syndrome PTPN11 gene mutation—phenotype characterization

J. Draaisma, L. Kapusta, I. van der Burgt, 2008, American journal of medical genetics. Part A.

Perceived motor problems in daily life: Focus group interviews with people with Noonan syndrome and their relatives

M. N. D. Nijhuis-van der Sanden, J. Draaisma, I. van der Burgt, 2016, American journal of medical genetics. Part A.

Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

R. Pfundt, M. Reijnders, S. Küry, 2018, Clinical genetics.

A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome

Y. Elgersma, H. Yntema, B. Distel, 2020, Molecular genetics & genomic medicine.

BRIT1/MCPH1 Links Chromatin Remodeling to DNA Damage Response

G. Peng, M. Pan, Shiaw-Yih Lin, 2009, Nature Cell Biology.

Xeroderma pigmentosum--Cockayne syndrome complex: a further case.

B. Hamel, B. Hamel, N. Jaspers, 1996 .

Multiplex Ligation‐dependent Probe Amplification (MLPA) as a stand‐alone test for rapid aneuploidy detection in amniotic fluid cells

A. Smits, A. Kooper, B. Faas, 2008, Prenatal diagnosis.

Effects of Growth Hormone Treatment on Left Ventricular Dimensions in Children with Noonan’s Syndrome

C. Noordam, B. Otten, I. van der Burgt, 2002, Hormone Research in Paediatrics.

Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism

N. de Leeuw, H. van Bokhoven, I. van der Burgt, 2020, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form.

H. Brunner, I. van der Burgt, H. Brunner, 2000, American journal of medical genetics.

Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.

J. Oosterwijk, B. Hamel, I. van der Burgt, 1991, American journal of medical genetics.

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome

E. Zackai, M. Patton, A. Shaw, 2002, Human Genetics.

Genetics and Variation in Phenotype in Noonan Syndrome

B. Otten, I. van der Burgt, K. Noordam, 2004, Hormone Research in Paediatrics.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review

B. V. van Bon, R. Pfundt, N. de Leeuw, 2008, American journal of medical genetics. Part A.

Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment

C. Sweep, H. Delemarre-van de Waal, R. Sengers, 2001, Clinical endocrinology.

Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era

H. Meijers-Heijboer, T. Rinne, K. Stuurman, 2019, Journal of Medical Genetics.

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

L. Hoefsloot, A. Smits, A. Kooper, 2012, Molecular Cytogenetics.

Further Delineation of the Critical Region for Noonan Syndrome on the Long Arm of Chromosome 12

E. Mariman, M. Patton, H. Kremer, 1997, European journal of human genetics : EJHG.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

A. Hoischen, A. Reymond, W. Reardon, 2013, Clinical genetics.

Nijmegen breakage syndrome in a Dutch patient not resulting from a defect in NBS1

F. Gabreëls, K. Cerosaletti, M. Ligtenberg, 2001, Journal of medical genetics.

Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis

N. de Leeuw, J. Hehir-Kwa, A. Smits, 2010, Journal of Medical Genetics.

Isolated sulfite oxidase deficiency: mutation analysis and DNA‐based prenatal diagnosis

K. Rajagopalan, J. Johnson, I. van der Burgt, 2002, Prenatal diagnosis.

Further delineation of the branchio-oculo-facial syndrome.

H. Brunner, R. Gorlin, A. Lin, 1995, American journal of medical genetics.

Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

J. Cruysberg, J. Draaisma, I. van der Burgt, 2016, Ophthalmology.

Meta-analysis of 2,104 trios provides support for 10 novel candidate genes for intellectual disability

L. Vissers, R. Pfundt, M. Reijnders, 2016, bioRxiv.

Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

Bradley P. Coe, B. Coe, J. Schuurs-Hoeijmakers, 2016, American journal of human 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.

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

D. Page, E. Mariman, R. Kucherlapati, 2000, Journal of medical genetics.

Variable phenotypic expression in a large Noonan syndrome family segregating a novel SOS1 mutation

T. Rinne, J. Draaisma, I. van der Burgt, 2017, American journal of medical genetics. Part A.

Noonan syndrome: Psychological and psychiatric aspects

S. Tuinier, W. Verhoeven, J. Egger, 2008, American journal of medical genetics. Part A.

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

L. Kiemeney, A. V. van Kessel, R. Kuiper, 2011, European Journal of Human Genetics.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Localization of the ICF syndrome to chromosome 20 by homozygosity mapping.

C. Wijmenga, J. V. van Dongen, E. Strengman, 1998, American journal of human genetics.

Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification.

A. V. van Kessel, A. Smits, A. Kooper, 2009, The Journal of molecular diagnostics : JMD.

Genotype-Phenotype Correlation in Patients Suspected of Having Sotos Syndrome

R. Hennekam, S. le Cessie, B. Hamel, 2004, Hormone Research in Paediatrics.

3-M syndrome: description of six new patients with review of the literature.

B. Otten, I. van der Burgt, H. Brunner, 2001, Clinical dysmorphology.

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development

R. Pfundt, N. de Leeuw, B. D. de Vries, 2007, Developmental medicine and child neurology.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

A. V. van Kessel, R. Kuiper, M. Ligtenberg, 2010, Genes, chromosomes & cancer.

Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation

M. Ahmadian, M. Zenker, C. Kratz, 2007, Journal of Medical Genetics.

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

L. Vissers, J. Veltman, H. Brunner, 2014, European Journal of Human Genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2

H. Brunner, J. Hurst, M. Digilio, 2021, Genetics in Medicine.

Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation

B. V. van Bon, I. van der Burgt, K. Noordam, 2008, American journal of medical genetics. Part A.

Nijmegen breakage syndrome.

K. Chrzanowska, D. Smeets, I. van der Burgt, 1996, Journal of medical genetics.

Motor performance in children with Noonan syndrome

C. Noordam, J. Draaisma, I. van der Burgt, 2017, American journal of medical genetics. Part A.

Clinical and molecular studies in a large Dutch family with Noonan syndrome.

E. Mariman, B. Hamel, S. V. van Beersum, 1994, American journal of medical genetics.

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

J. Opitz, K. Devriendt, H. Firth, 2005, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

B. V. van Bon, B. Hamel, H. Yntema, 2012, Case reports in genetics.

Patient with a neurofibromatosis type 1 mutation but a clinical diagnosis of Noonan syndrome

A. V. D. van den Ouweland, H. Yntema, I. van der Burgt, 2012, Clinical dysmorphology.

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

E. Mariman, H. Kremer, H. van Bokhoven, 1999, American journal of medical genetics.

Neuropsychological and Behavioral Aspects of Noonan Syndrome

W. Verhoeven, J. Egger, I. van der Burgt, 2009, Hormone Research in Paediatrics.

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

H. Cavé, M. Digilio, M. Tartaglia, 2020, European Journal of Human Genetics.

Affective functioning and social cognition in Noonan syndrome

W. Verhoeven, R. Kessels, J. Egger, 2011, Psychological Medicine.

Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression.

F. Gabreëls, H. Brunner, B. Otten, 1999, The Journal of pediatrics.

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

H. Yntema, H. Yntema, I. van der Burgt, 2010, Prenatal diagnosis.

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

W. Reardon, H. Brunner, F. Luyten, 1997, Nature Genetics.

Growth Hormone Treatment in Cartilage-Hair Hypoplasia: Effects on Growth and the Immune System

B. Otten, I. van der Burgt, C. Weemaes, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

Mapping a gene for Noonan syndrome to the long arm of chromosome 12

E. Mariman, M. Patton, A. Brady, 1994, Nature Genetics.

De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

R. Pfundt, J. Ganesh, B. Menten, 2018, Nature Genetics.

The Relationship between Clinical Severity of Noonan's Syndrome and Growth, Growth Hormone (GH) Secretion and Response to GH Treatment

B. Otten, I. van der Burgt, K. Noordam, 2002, Journal of pediatric endocrinology & metabolism : JPEM.

Denys–Drash syndrome and congenital diaphragmatic hernia: Another case with the 1097G > A(Arg366His) mutation

B. V. van Bon, I. van der Burgt, K. Noordam, 2008, American journal of medical genetics. Part A.

BRIT1/MCPH1 Links Chromatin Remodeling to DNA Damage Response

G. Peng, Shiaw-Yih Lin, E. Yim, 2009, Nature Cell Biology.