J. M. van Hagen

发表

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.

A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies

K. Devriendt, G. Mortier, J. Hurst, 2007, American journal of medical genetics. Part A.

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

J. Ragoussis, W. Foulkes, S. Hopman, 2015, Journal of Medical Genetics.

A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal Cancer

G. Meijer, K. Claes, F. Menko, 2004, Familial Cancer.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

SYNGAP1 encephalopathy

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

upd(20)mat is a rare cause of the Silver‐Russell‐syndrome‐like phenotype: Two unrelated cases and screening of large cohorts

Z. Tümer, T. Eggermann, M. Finken, 2019, Clinical genetics.

Rapid detection of microdeletions using fluorescence in situ hybridisation (FISH) on buccal smears

J. M. van Hagen, A. Nieuwint, L. T. ten Kate, 2000, Journal of medical genetics.

A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

R. Veenhoven, J. M. van de Kamp, E. Sistermans, 2009, Journal of Medical Genetics.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology.

J. Gille, J. M. van Hagen, H. Evenhuis, 2007, Journal of intellectual disability research : JIDR.

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

J. Mulliken, M. Vikkula, F. Forzano, 2013, Molecular Syndromology.

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

E. Zackai, H. Hakonarson, H. Brunner, 2022, HGG advances.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

L. Vissers, B. D. de Vries, E. Eichler, 2022, Translational Psychiatry.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes

D. Koboldt, T. Kleefstra, H. van Bokhoven, 2022, American journal of medical genetics. Part A.

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures.

R. Person, Y. Weber, M. Weiss, 2020, European journal of medical genetics.

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

Bba, L. Vissers, B. D. de Vries, 2005, Journal of Medical Genetics.

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

R. Pfundt, V. Shashi, T. Kleefstra, 2021, American journal of medical genetics. Part A.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling.

P. Jeggo, W. Dobyns, M. O’Driscoll, 2007, American journal of human genetics.

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

R. Hennekam, A. Latos-Bieleńska, A. Shaw, 2015, European journal of medical genetics.

Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.

T. Pandita, I. Thiffault, G. B. Schaefer, 2019, The Journal of clinical investigation.

Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

R. L. Lekanne Deprez, M. Alders, J. M. van Hagen, 2006, Journal of Medical Genetics.

Results of next‐generation sequencing gene panel diagnostics including copy‐number variation analysis in 810 patients suspected of heritable thoracic aortic disorders

M. Groenink, M. Kempers, K. Yeung, 2018, Human mutation.

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.

Jennifer M. Gardner, A. C. van der Wal, J. Miner, 2005, The Journal of investigative dermatology.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.

A clustering of missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

H. Hakonarson, J. A. Taylor, H. Brunner, 2021, medRxiv.

Further delineation of Malan syndrome

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2018, Human mutation.

Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature

H. Basart, C. M. van der Horst, M. H. van den Boogaard, 2015, American journal of medical genetics. Part A.

Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation

R. Wolthuis, M. Speicher, Q. Waisfisz, 2022, Science advances.

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

J. Gille, A. Houweling, J. M. van Hagen, 2009, Clinical dysmorphology.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

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

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

R. Hennekam, C. Shaw-Smith, F. Alkuraya, 2020, Journal of intellectual disability research : JIDR.

Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification.

C. D. De Zeeuw, J. N. van der Geest, J. Gille, 2007, Genetic testing.

Increased Prevalences of Left-handedness and Left-eye Sighting Dominance in Individuals with Williams-Beuren Syndrome

M A Frens, M. Frens, J. N. van der Geest, 2005, Journal of clinical and experimental neuropsychology.

NCEN 27(8).book(NCEN_A_50999.fm)

M. Frens, J. N. van der Geest, J. V. Van Strien, 2005 .

Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

J. M. van Hagen, J. B. Bijlsma, A. Nieuwint, 2005, American journal of medical genetics. Part A.

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

R. Person, C. Stevens, E. Marsh, 2021, Brain : a journal of neurology.

Clinical presentations of patients with polyol abnormalities.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2004, Neuropediatrics.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

V. Verhoeven, A. B. Mink van der Molen, J. K. Ploos van Amstel, 2023, Molecular Syndromology.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

Successful naltrexone-bupropion treatment after several treatment failures in a patient with severe monogenic obesity

E. V. van Rossum, J. M. van Hagen, E. S. van der Valk, 2023, iScience.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2021, American journal of human genetics.

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome.

P. Striano, B. Wirth, Q. Waisfisz, 2018, American journal of human genetics.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

B. V. van Bon, L. Vissers, R. Pfundt, 2024, American journal of human genetics.

Birth prevalence of Robin sequence in the Netherlands from 2000‐2010: a retrospective population‐based study in a large Dutch cohort and review of the literature

H. Basart, C. M. van der Horst, M. H. van den Boogaard, 2015, American journal of medical genetics. Part A.