H. Yntema

发表

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

L. Vissers, J. Schuurs-Hoeijmakers, A. Hoischen, 2016, European Journal of Human Genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

B. V. van Bon, A. V. Vulto-van Silfhout, L. Vissers, 2012, The New England journal of medicine.

Genome sequencing identifies major causes of severe intellectual disability

L. Vissers, A. Hoischen, R. Pfundt, 2014, Nature.

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects

R. Mägi, C. Tyler-Smith, A. Metspalu, 2020, bioRxiv.

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

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

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype

J. Schuurs-Hoeijmakers, B. Ceulemans, T. Kleefstra, 2016, Journal of Medical Genetics.

Beta-propeller protein-associated neurodegeneration (BPAN), a rare form of NBIA: novel mutations and neuropsychiatric phenotype in three adult patients.

W. Verhoeven, B. P. Van de Warrenburg, H. Yntema, 2014, Parkinsonism & related disorders.

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.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in Medicine.

Update on Kleefstra Syndrome

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

Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome

M. Nelen, H. Bokhoven, T. Kleefstra, 2011, Human Mutation.

The fragile X‐associated tremor ataxia syndrome (FXTAS) in Indonesia

R. Hagerman, A. Ediati, B. Hamel, 2013, Clinical genetics.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

H. Ropers, T. Degrauw, J. Fryns, 2004, American journal of human genetics.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

Christian Gilissen, Ilse Feenstra, Nienke Wieskamp, 2013, Human mutation.

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.

Mutation frequencies of X‐linked mental retardation genes in families from the EuroMRX consortium

J. Gécz, B. D. de Vries, S. Lenzner, 2007, Human mutation.

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals

L. Vissers, H. Brunner, I. Feenstra, 2021, European journal of human genetics : EJHG.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

R. Pfundt, J. Verhoeven, H. Brunner, 2018, Epilepsia.

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

M. Tekin, H. Kremer, I. Feenstra, 2017, Hearing Research.

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

P. Møller, D. Evans, A. Spigelman, 2013, Familial Cancer.

Genotype and phenotype spectrum of NRAS germline variants

H. Cavé, M. Ahmadian, M. Tartaglia, 2017, European Journal of Human Genetics.

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

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

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield

L. Vissers, C. Gilissen, E. Kamsteeg, 2020, medRxiv.

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

H. Scheffer, I. B. Mathijssen, B. Faas, 2013, European Journal of Human Genetics.

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.

Sander B Nabuurs, Lionel Willatt, Jamel Chelly, 2006, American journal of human genetics.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

C. Cremers, A. Beynon, H. Kremer, 2020, Journal of Medical Genetics.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

C. Cremers, A. Beynon, H. Kremer, 2019, Journal of Medical Genetics.

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy

Wei Chen, S. Nabuurs, J. T. Dunnen, 2013, European Journal of Human Genetics.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Phenotypic and molecular insights into CASK-related disorders in males

R. Pfundt, D. Steinemann, B. Menten, 2015, Orphanet Journal of Rare Diseases.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

L. Vissers, R. Pfundt, M. Nelen, 2022, Genome medicine.

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

L. Vissers, M. V. van Gerven, C. Gilissen, 2021, bioRxiv.

Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3

Patrick J. Short, M. Hurles, L. Vissers, 2020 .

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.

MECP 2 is highly mutated in X-linked mental retardation

H. Ropers, J. Fryns, A. Verloes, 2001 .

The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study

H. Brunner, H. Yntema, A. Oerlemans, 2021, European Journal of Human Genetics.

Recommendations for whole genome sequencing in diagnostics for rare diseases

N. de Leeuw, J. Belmont, J. Clayton-Smith, 2022, European Journal of Human Genetics.

EuroGentest guidelines for diagnostic next generation sequencing

P. Bauer, M. Sturm, G. Matthijs, 2014 .

Low frequency of MECP2 mutations in mentally retarded males

H. Brunner, H. Bokhoven, T. Kleefstra, 2002, European Journal of Human Genetics.

Clinical exome sequencing—Mistakes and caveats

R. Pfundt, S. Smeekens, M. Nelen, 2022, Human mutation.

Cardiac evaluation in children with Prader–Willi syndrome

C. D. de Korte, H. Yntema, B. Otten, 2012, Acta paediatrica.

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

R. Hennekam, M. Weiss, H. Yntema, 2014, European journal of medical genetics.

A gene for nonsyndromic X‐linked mental retardation (MRX77) maps to Xq12‐Xq21.33

H. Bokhoven, C. Sismani, J. Chelly, 2003, American journal of medical genetics. Part A.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

H. Brunner, H. van Bokhoven, B. Hamel, 2002, American journal of medical genetics.

Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

H. Brunner, A. Paulussen, C. Gilissen, 2021, Genetics in Medicine.

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

R. Pfundt, N. de Leeuw, C. Gilissen, 2019, Genetics in Medicine.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders

L. Vissers, R. Pfundt, N. de Leeuw, 2022, European Journal of Human Genetics.

Clinical Phenotype of 5 Females With a CDKL5 Mutation

H. Yntema, A. Verrips, L. Spruijt, 2012, Journal of child neurology.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

L. Vissers, R. Pfundt, N. de Leeuw, 2016, Genetics in medicine : official journal of the American College of Medical Genetics.

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

R. Pfundt, L. Hoefsloot, N. Knoers, 2011, European Journal of Human Genetics.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

L. Vissers, S. Cheung, J. Veltman, 2012, Nature Genetics.

In-frame deletion in MECP2 causes mild nonspecific mental retardation.

J. Fryns, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

B. Ceulemans, E. Sistermans, A. Groffen, 2014, European Journal of Human Genetics.

Leopard Syndrome. Familial cases

H. Brunner, H. Yntema, S. Iurian, 2014, Romanian Journal of Pediatrics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2016, European Journal of Human Genetics.

Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8

T. Degrauw, J. Fryns, T. Kleefstra, 2004 .

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation

H. Ropers, J. Fryns, J. Schaffer, 2002, Nature Genetics.

Mutations in the human TBX4 gene cause small patella syndrome.

E. Bongers, L. Hoefsloot, A. van Kampen, 2004, American journal of human genetics.

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.

Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing: “A great technology creating new dilemmas”

H. Brunner, H. Yntema, A. Oerlemans, 2022, Journal of genetic counseling.

A lethal course of hypertrophic cardiomyopathy in Noonan syndrome due to a novel germline mutation in the KRAS gene: case study

H. Yntema, D. Paro-Panjan, S. Vesel, 2013, Croatian medical journal.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

Clinical and molecular analysis of Noonan syndrome in Indonesia: a case report

H. Yntema, W. Nillesen, S. Faradz, 2016 .

The etiological evaluation of sensorineural hearing loss in children

S. T. Goverts, M. Engel, J. M. van de Kamp, 2019, European Journal of Pediatrics.

Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations

A. Vanderver, L. Medne, A. Gropman, 2014, American journal of medical genetics. Part A.

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

H. Ropers, H. Bokhoven, J. Fryns, 2000, Nature Genetics.

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

A. Beynon, H. Kremer, C. Hoyng, 2018, Clinical genetics.

Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer–Saldino syndrome diagnosis

E. Bongers, S. Letteboer, R. Roepman, 2018, Cilia.

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression.

J. Kremer, H. Yntema, A. Oudakker, 2002, Fertility and sterility.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

Lisa T. Emrick, Michael F. Wangler, J. Rosenfeld, 2019, Nature Communications.

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

P. Robinson, H. Brunner, T. Roscioli, 2012, American journal of medical genetics. Part A.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

A. Hoischen, H. Kremer, F. Cremers, 2021, Human genetics.

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

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

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Adam P. DeLuca, Matthew S. Lebo, Janeen L Andorf, 2014, Genome Biology.

Kali T. Witherspoon, Bradley P. Coe, B. Coe, 2014, Nature Genetics.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Daniel Nilsson, Peter Szolovits, Karen Eilbeck, 2014, Genome Biology.

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

B. V. van Bon, L. Vissers, B. D. de Vries, 2013, Journal of Medical Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

MECP2 gene mutations in non‐syndromic X‐linked mental retardation: Phenotype–genotype correlation

A. Toutain, A. Verloes, V. Kalscheuer, 2003, American journal of medical genetics. Part A.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

T. Wieland, T. Strom, J. Veltman, 2014, Human Genetics.

Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

S. Letteboer, L. Hetterschijt, R. Roepman, 2017, Journal of Medical Genetics.

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

H. Kremer, D. Keegan, M. Damme, 2022, Human Genetics.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

T. Strom, H. Kremer, S. Riazuddin, 2015, European Journal of Human Genetics.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

E. van Wijk, H. Kremer, F. Cremers, 2021, International journal of molecular sciences.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

J. Shendure, A. Hoischen, J. Hehir-Kwa, 2017, Clinical chemistry.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

Cancer risk and genotype–phenotype correlations in PTEN hamartoma tumor syndrome

P. Møller, D. Evans, A. Spigelman, 2014, Familial Cancer.

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Helger Yntema, Erika Souche, 2015, European Journal of Human Genetics.

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

L. Vissers, R. Pfundt, N. de Leeuw, 2020, Prenatal diagnosis.

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.

Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

A. Green, W. Reardon, E. Bongers, 2011, European Journal of Human Genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Gert Jan van der Wilt, Janneke Grutters, Han G Brunner, 2017, Genetics in Medicine.

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

L. Vissers, T. Wieland, T. Strom, 2014, Human Genetics.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

B. V. van Bon, N. de Leeuw, H. Brunner, 2014, European Journal of Human Genetics.

Mutations in MED12 cause X-linked Ohdo syndrome.

B. V. van Bon, A. V. Vulto-van Silfhout, A. Hoischen, 2013, American journal of human genetics.

Presence of Genetic Variants Among Young Men With Severe COVID-19.

J. Schuurs-Hoeijmakers, A. Hoischen, M. Jaeger, 2020, JAMA.

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

R. Pfundt, N. de Leeuw, J. Hehir-Kwa, 2012, European journal of medical genetics.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

A. Beynon, P. Lichtner, E. van Wijk, 2018, American journal of human genetics.

Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia

R. Pfundt, J. Hurst, A. V. D. van den Ouweland, 2017, European Journal of Human Genetics.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

R. Pfundt, J. Hehir-Kwa, M. Nelen, 2016, European Journal of Human Genetics.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

B. V. van Bon, N. de Leeuw, H. Brunner, 2015, European Journal of Human Genetics.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

B. Knoppers, A. Clarke, K. Sénécal, 2017, European Journal of Human Genetics.

A cytogenetic study in a large population of intellectually disabled Indonesians.

B. V. van Bon, B. Hamel, D. Smeets, 2012, Genetic testing and molecular biomarkers.

Neuropeptide Y inhibits Ca2+ oscillations, cyclic AMP, and secretion in melanotrope cells of Xenopus laevis via a Y1 receptor

B. Jenks, E. Roubos, P. Willems, 1995, Peptides.

Reflecting on Earlier Experiences with Unsolicited Findings: Points to Consider for Next-Generation Sequencing and Informed Consent in Diagnostics

Q. Waisfisz, M. Cornel, P. Borry, 2013, Human mutation.

Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma

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

X‐linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA‐binding site mutations

M. Fleming, D. Swinkels, C. Niemeyer, 2014, American journal of hematology.

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

J. Gécz, A. Green, B. Echenne, 2009, European Journal of Human Genetics.

1 in 38 individuals at risk of a dominant medically actionable disease

A. V. Vulto-van Silfhout, L. Vissers, H. Brunner, 2018, European Journal of Human Genetics.

Functional Characterization of Human RSK4, a New 90-kDa Ribosomal S6 Kinase, Reveals Constitutive Activation in Most Cell Types*

J. Silber, D. Alessi, B. Hemmings, 2005, Journal of Biological Chemistry.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

D. MacArthur, L. Vissers, M. Reijnders, 2016, American journal of human genetics.

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

S. Dib-Hajj, S. Waxman, P. Praamstra, 2015, Journal of Medical Genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, B. D. de Vries, 2014, American journal of human genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

R. Pfundt, H. Brunner, C. Gilissen, 2016, Genome Medicine.

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.

Variants in CUL4B are Associated with Cerebral Malformations

A. V. Vulto-van Silfhout, L. Vissers, S. Haas, 2015, Human mutation.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

A. V. van Kessel, A. Smits, T. Feuth, 2010, American journal of medical genetics. Part A.

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.

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics

H. Bokhoven, T. Kleefstra, B. Hamel, 2004, European Journal of Human Genetics.

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

C. Cremers, E. van Wijk, H. Kremer, 2004, American journal of human genetics.

MECP2 is highly mutated in X-linked mental retardation.

H. Ropers, J. Fryns, A. Verloes, 2001, Human molecular genetics.

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

A. Beynon, H. Kremer, R. Pennings, 2023, Genes.

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

A. Beynon, H. Kremer, J. M. van de Kamp, 2018, Human Genetics.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

R. Pfundt, J. Hehir-Kwa, C. Klaver, 2017, European Journal of Human Genetics.

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Steffen Lenzner, Constance Scharff, Kirsten Hoffmann, 2003, Nature Genetics.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA

L. Vissers, M. Nelen, K. Neveling, 2022, npj Genomic Medicine.

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.

Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

M. van der Burg, M. Wentink, J. V. van Dongen, 2016, The Journal of allergy and clinical immunology.

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss

D. Meyer, H. Yntema, K. Nunes, 2021, European Journal of Human Genetics.

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss

D. Meyer, H. Yntema, K. Nunes, 2021, European Journal of Human Genetics.

Nonsyndromic X-linked mental retardation: where are the missing mutations?

J. Gécz, H. Ropers, M. Partington, 2003, Trends in genetics : TIG.

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

B. V. van Bon, R. Pfundt, B. Hamel, 2013, Indian journal of human genetics.

Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion.

B. V. van Bon, N. de Leeuw, B. Hamel, 2012, Gene.

Survey of brain-expressed genes in a 7.3 mb region on proximal xp involved in non-syndromic X-linked mental retardation

J. Gécz, C. Scharff, S. Haas, 2003 .

Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.

D. Hannequin, D. Wallon, A. Laquérriere, 2010, Clinical neuropathology.

High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome

R. Stevenson, C. Schwartz, T. Degrauw, 2005 .

Localization of a gene for nonspecific X-linked mental retardation (MRX 76) to Xp22.3-Xp21.3.

B. D. de Vries, T. Kleefstra, H. van Bokhoven, 2002, American journal of medical genetics.

Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.

A. V. van Kessel, A. Smits, T. Feuth, 2011, Human reproduction.

Reproductive endocrinology Intra-individual stability over time of standardized anti-Müllerian hormone in FMR 1 premutation carriers

A. Smits, T. Feuth, H. Yntema, 2011 .

Predictors and risk model development for menopausal age in fragile X premutation carriers

A. Smits, T. Feuth, H. Yntema, 2011, Genetics in Medicine.

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.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

B. D. de Vries, J. Veltman, H. Bokhoven, 2005, Journal of Medical Genetics.

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I

S. Nabuurs, H. van Bokhoven, J. Christodoulou, 2012, American journal of medical genetics. Part A.

Accurate detection of clinically relevant uniparental disomy from exome sequencing data

R. Pfundt, N. de Leeuw, C. Gilissen, 2019, Genetics in Medicine.

A newborn with overlapping features of AEC and EEC syndromes

S. Ersoy-Evans, H. Yntema, P. Simsek-Kiper, 2011, American journal of medical genetics. Part A.

Xenopus laevis via a Y t Receptor

B. Jenks, E. Roubos, P. Willems, 1995 .

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation

P. D. de Jong, K. Osoegawa, J. Veltman, 2004, Journal of Medical Genetics.

Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I

S. Nabuurs, H. van Bokhoven, J. Christodoulou, 2012, American journal of medical genetics. Part A.

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

H. Brunner, F. Cremers, H. Ropers, 1999, Genomics.

The fragile X‐associated tremor ataxia syndrome (FXTAS) in Indonesia

R. Hagerman, A. Ediati, H. Yntema, 2013, Clinical genetics.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Kayserili, H. Venselaar, H. Yntema, 2015, Clinical genetics.

Cardiac evaluation in children with Prader–Willi syndrome

C. D. de Korte, H. Yntema, B. Otten, 2012, Acta paediatrica.

Exploring uncertainties regarding unsolicited findings in genetic testing.

M. Hillen, H. Yntema, Vyne van der Schoot, 2023, Patient education and counseling.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

A. Hoischen, N. de Leeuw, J. Tolmie, 2011, Clinical genetics.

NR2F1 mutations cause optic atrophy with intellectual disability.

L. Vissers, R. Pfundt, R. Gibbs, 2014, American journal of human genetics.

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

A. Hoischen, R. Pfundt, C. Gilissen, 2023, Nature communications.