C. Marcelis

发表

Hunting for novel disease genes in autosomal dominant cardiomyopathies: elucidating a role for the sarcomeric pathway

R. Sinke, R. Almomani, R. A. Boer, 2016 .

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association

I. V. van Rooij, D. Tibboel, V. Tasic, 2013, Kidney international.

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Sebastian Bauer, Sebastian Köhler, Christian Rödelsperger, 2010, Nature Genetics.

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

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

Arrhythmogenic Right Ventricular Cardiomyopathy in a Pediatric Patient

D. Bosboom, B. Velthuis, A. T. te Riele, 2020, JACC. Case reports.

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.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

E. Bongers, G. Pals, H. Meijers-Heijboer, 2009, European Journal of Human Genetics.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex

M. Nöthen, S. Moebus, A. Brusco, 2016, BMC Medical Genetics.

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy.

H. Smeets, J. Geraedts, R. Jongbloed, 2003, Journal of the American College of Cardiology.

PORCN mutations in focal dermal hypoplasia: coping with lethality

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

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype

J. Timmermans, M. Kempers, D. Micha, 2018, Journal of Medical Genetics.

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

M. Baumgartner, A. Kariminejad, C. Marcelis, 2011, Orphanet journal of rare diseases.

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

K. Devriendt, J. Vermeesch, H. Van Esch, 2010, American journal of medical genetics. Part A.

A single hERG mutation underlying a spectrum of acquired and congenital long QT syndrome phenotypes.

A. Paulussen, J. Aerssens, D. Snyders, 2007, Journal of molecular and cellular cardiology.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

N. Rahman, D. Baralle, C. Mercer, 2018, Wellcome open research.

Two Siblings With a CDKL5 Mutation

M. Alders, A. de Weerd, C. Marcelis, 2015, Journal of child neurology.

High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy

J. Bakker, J. Timmermans, F. Verheugt, 2017, The International Journal of Cardiovascular Imaging.

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome

H. Smeets, J. Geraedts, R. Jongbloed, 2002, Human mutation.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Oesophageal atresia with tracheoesophageal fistula and anal atresia in a patient with a de novo microduplication in 17q12.

N. de Leeuw, H. Brunner, R. Śmigiel, 2014, European journal of medical genetics.

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

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.

AGORA, a data- and biobank for birth defects and childhood cancer.

B. Franke, I. V. van Rooij, A. Kuijpers-Jagtman, 2016, Birth defects research. Part A, Clinical and molecular teratology.

PLS3 mutations in X-linked osteoporosis with fractures

A. Hofman, A. Uitterlinden, B. Wirth, 2014 .

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family

R. Hennekam, H. Tonoki, S. Nampoothiri, 2010, Journal of Medical Genetics.

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.

Obesity Cardiovascular Disease and the Failure of Public Health Education

S. Boekholdt, H. Katus, C. Bezzina, 2022 .

A rare complex malformation of the hand in split hand foot malformation type 3 (SHFM3)

C. Marcelis, D. Koolen, J. Cobben, 2013, Clinical dysmorphology.

Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations.

A. Wilde, S. Boekholdt, H. Katus, 2016, Journal of the American College of Cardiology.

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification

N. Blom, D. Barge-Schaapveld, A. Baas, 2022, Circulation. Genomic and precision medicine.

Chromosomal anomalies in the etiology of anorectal malformations: A review

H. Brunner, C. Marcelis, I. de Blaauw, 2011, American journal of medical genetics. Part A.

Prediction of Extensive Myocardial Fibrosis in Nonhigh Risk Patients With Hypertrophic Cardiomyopathy.

J. Bakker, R. D. de Boer, J. Timmermans, 2018, The American journal of cardiology.

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.

Mosaic telomeric (2;14) association in a child with motor delay.

J. Herbergs, C. Marcelis, J. Engelen, 2000, American journal of medical genetics.

Genotype–phenotype correlations in MYCN‐related Feingold syndrome

H. Brunner, H. van Bokhoven, H. Scheffer, 2008, Human mutation.

Feingold Syndrome 1

C. Marcelis, A. Brouwer, 2012 .

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.

Complete COL1A1 allele deletions in osteogenesis imperfecta

G. Pals, H. Meijers-Heijboer, A. Plomp, 2010, Genetics in Medicine.

Cytoplasmic localization of PML particles in laminopathies

J. Broers, F. Ramaekers, C. Marcelis, 2012, Histochemistry and Cell Biology.

The Currarino Triad: Neurosurgical Considerations

E. Beuls, R. Beets-Tan, G. Kootstra, 2006, Neurosurgery.

The Currarino triad: the variable expression.

E. Beuls, G. Kootstra, P. Emans, 2005, Journal of pediatric surgery.

“This bicycle gives me a headache”, a congenital anomaly

W. Feitz, E. V. van Lindert, C. Marcelis, 2013, BMC Research Notes.

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.

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

Kali T. Witherspoon, B. Coe, K. Witherspoon, 2017, European Journal of Human Genetics.

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

De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

M. Nöthen, B. Herrmann, L. Wittler, 2013, European Journal of Human Genetics.

Neurodevelopmental protein Musashi-1 interacts with the Zika genome and promotes viral replication

C. Woods, F. Gergely, A. Firth, 2017, Science.

Heterozygous Mutations of FREM 1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2019 .

Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

L. Vissers, J. Veltman, K. Sekiguchi, 2011, PLoS genetics.

Title Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

J. Veltman, K. Sekiguchi, M. Passos-Bueno, 2022 .

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

B. V. van Bon, J. Schuurs-Hoeijmakers, R. Pfundt, 2009, Journal of Medical Genetics.

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

M. Nöthen, I. V. van Rooij, T. Becker, 2014, Human molecular 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.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

H. Smeets, H. Brunner, A. Paulussen, 2016, European heart journal.

SLC20A1 Is Involved in Urinary Tract and Urorectal Development

I. V. van Rooij, W. Newman, M. Lacher, 2020, Frontiers in Cell and Developmental Biology.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

Repetitive disruptions of the nuclear envelope invoke temporary loss of cellular compartmentalization in laminopathies.

W. D. De Vos, E. Manders, J. Broers, 2011, Human molecular genetics.

Early presentation of cystic kidneys in a family with a homozygous INVS mutation

B. V. van Bon, A. Hoischen, N. de Leeuw, 2014, American journal of medical genetics. Part A.

High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

A. Wagner, R. Kuiper, M. Ligtenberg, 2018, Clinical Cancer Research.

Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

E. Zackai, A. Guttmacher, M. Bamshad, 2005, American journal of human genetics.

The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies

M. Shinawi, K. Dent, J. Carey, 2017, American journal of medical genetics. Part A.

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress

S. Zinn-Justin, J. Broers, P. Steijlen, 2009, Journal of cellular and molecular medicine.

A. Wilde, M. P. van den Berg, G. T. te Meerman, 2017, Circulation. Cardiovascular genetics.

Cytoplasmic localization of PML particles in laminopathies

W. D. De Vos, J. Broers, C. Marcelis, 2012, Histochemistry and Cell Biology.

Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.

H. Smeets, R. Hennekam, S. Zinn-Justin, 2006, Human molecular 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.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.

Ellen F. Macnamara, L. Vissers, B. D. de Vries, 2019, American journal of human genetics.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

I. Simonic, Soo-Mi Park, D. Mitter, 2018, Annals of neurology.

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.

I. V. van Rooij, H. Brunner, R. Hofstra, 2014, Birth defects research. Part A, Clinical and molecular teratology.

Wolf-Hirschhorn (4P-) syndrome in adults.

N. Philip, J. Fryns, F. Beemer, 2001, Genetic counseling.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

W. Reardon, H. Brunner, A. Mégarbané, 2013, Orphanet Journal of Rare Diseases.

PLS3 mutations in X-linked osteoporosis with fractures.

A. Hofman, A. Uitterlinden, B. Wirth, 2013, The New England journal of medicine.

A mutation update for the FLNC gene in myopathies and cardiomyopathies

S. Heymans, H. Brunner, F. Asselbergs, 2020, Human mutation.

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.

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

V. Sutton, M. Tartaglia, R. Pauli, 2017, American journal of human genetics.

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

Wei Cheng, W. Newman, C. Khor, 2017, Scientific Reports.

Early onset dystonia and parkinsonism with abnormal globus pallidal signal in MRI: A diagnostic challenge

B. P. Warrenburg, F. Meijer, B. Post, 2013, Movement Disorders.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Katherine R. Smith, M. B. Pereira, A. Need, 2021, Brain : a journal of neurology.

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man

E. Bongers, L. Hoefsloot, N. Knoers, 2008, European Journal of Human Genetics.

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

S. Julia, F. Lecoquierre, R. Abou Jamra, 2022, European Journal of Human Genetics.

De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection.

C. Marcelis, C. Pulles-Heintzberger, J. Engelen, 2001, American journal of medical genetics.

Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy.

R. Hauer, D. Atsma, G. Bonsel, 2011, European heart journal.

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

W. Verhoeven, B. Kremer, C. Marcelis, 2011, Neuropsychiatric disease and treatment.

High T2-weighted signal intensity is associated with elevated troponin T in hypertrophic cardiomyopathy

J. Bakker, J. Timmermans, F. Verheugt, 2016, Heart.

Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant

D. Fatkin, M. P. van den Berg, R. N. Eppinga, 2021, medRxiv.

Neuropsychiatric Disease and Treatment Dovepress Recurrent Major Depression, Ataxia, and Cardiomyopathy: Association with a Novel Polg Mutation? Jos Im Egger Boudewijn Jhb De Pont

W. Verhoeven, B. Kremer, C. Marcelis, 2022 .

Severe mental retardation, epilepsy, anal anomalies, and distal phalangeal hypoplasia in siblings

H. Brunner, F. Beemer, C. Marcelis, 2007, Clinical dysmorphology.

Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families

B. D. de Vries, S. Küry, J. Martinez-Agosto, 2023, American journal of medical genetics. Part A.

De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.

Ellen F. Macnamara, E. Eklund, C. Toro, 2021, Brain : a journal of neurology.

Two patients with intellectual disability, overlapping facial features, and overlapping deletions in 6p25.1p24.3

A. V. Vulto-van Silfhout, R. Pfundt, N. de Leeuw, 2013, Clinical Dysmorphology.

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

R. Pfundt, A. V. van Kuilenburg, C. Marcelis, 2013, The Journal of allergy and clinical immunology.

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks

R. Pfundt, J. Howe, H. Brunner, 2023, Human molecular genetics.

A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

L. Vissers, A. Hoischen, N. de Leeuw, 2023, HGG advances.

Duplications of SLC1A3: Associated with ADHD and autism.

J. Schuurs-Hoeijmakers, R. Pfundt, N. de Leeuw, 2016, European journal of medical genetics.

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency

J. Schuurs-Hoeijmakers, M. Lilien, C. Marcelis, 2021, American journal of medical genetics. Part A.

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts

K. Horstman, C. Marcelis, I. Hoyweghen, 2012, European Journal of Human Genetics.

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia

D. Lefeber, S. Tuinier, W. Verhoeven, 2010, Acta psychiatrica Scandinavica.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

H. Mefford, C. Skinner, R. Stevenson, 2023, medRxiv.

Constructing “best interests”: Genetic testing of children in families with hypertrophic cardiomyopathy

K. Horstman, I. van Hoyweghen, C. Marcelis, 2011, American journal of medical genetics. Part A.