I. M. van de Laar

发表

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

B. Oostra, E. Brilstra, G. Breedveld, 2012, Neurology.

Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.

Mahshid S. Azamian, J. Rosenfeld, S. Lalani, 2020, American journal of human genetics.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series

E. Kamsteeg, J. F. de Rijk-van Andel, I. M. van de Laar, 2021, Child neurology open.

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

G. Pals, S. Bierma-Zeinstra, J. Timmermans, 2011, Journal of Medical Genetics.

European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants

E. Arbustini, J. Timmermans, B. Mulder, 2019, Orphanet Journal of Rare Diseases.

Aggressive Cardiovascular Phenotype of Aneurysms-osteoarthritis Syndrome Caused by Pathogenic Smad3 Variants

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2022 .

Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

A. Evangelista, G. Jondeau, P. Gallego, 2019, European journal of preventive cardiology.

Abnormal Aortic Wall Properties in Women with Turner Syndrome

A. E. van den Bosch, J. McGhie, J. Roos‐Hesselink, 2020, AORTA.

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

J. G. Post, J. Roos‐Hesselink, B. Bouma, 2018, International Journal of Cardiology.

Pregnancy in Women With SMAD3 Mutation.

J. Roos‐Hesselink, D. van der Linde, I. M. van de Laar, 2017, Journal of the American College of Cardiology.

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants

L. Hoefsloot, G. Geeven, G. Mancini, 2022, medRxiv.

ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype

P. Bauer, A. Bertoli-Avella, C. Beetz, 2020, Clinical genetics.

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms.

I. van Herzeele, H. Dietz, J. Roos‐Hesselink, 2013, Journal of vascular surgery.

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

B. Oostra, M. Lequin, A. Bertoli-Avella, 2009, European heart journal.

SYNGAP1 encephalopathy

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

Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype

K. Devriendt, L. Hoefsloot, I. M. van de Laar, 2007, American journal of medical genetics. Part A.

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort.

J. Roos‐Hesselink, J. Bekkers, M. Kempers, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.

A. Moorman, I. B. Mathijssen, P. Rump, 2010, Cardiovascular research.

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.

Aortic Dimensions and Clinical Outcome in Patients With SMAD3 Mutations

J. Roos‐Hesselink, J. Bekkers, S. Baart, 2018, Circulation. Genomic and precision medicine.

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).

M. Kempers, A. Baas, B. Loeys, 2022, European journal of medical genetics.

Phenotype of COL3A1/COL5A2 deletion patients.

N. de Leeuw, M. Kempers, B. Loeys, 2022, European journal of medical genetics.

RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis

H. Smeets, R. Rodenburg, P. Bonnen, 2022, The Journal of clinical investigation.

HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD) a statement from the HTAD working group of VASCERN.

J. Timmermans, M. Groenink, A. Evangelista, 2022, European journal of medical genetics.

O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

A. O’Donnell-Luria, N. Chassaing, C. Schaaf, 2021, Journal of Medical Genetics.

De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.

Marni J. Falk, Donna M. Martin, R. Pfundt, 2019, American journal of human genetics.

Diploid/triploid mosaicism in dysmorphic patients

R. Hochstenbach, J. Giltay, I. M. van de Laar, 2002, Clinical genetics.

Mapping of 5q35 chromosomal rearrangements within a genomically unstable region

F. Antonacci, J. Veltman, K. Buysse, 2008, Journal of Medical Genetics.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human Genetics.

A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques.

R. Hochstenbach, A. de Klein, B. Eussen, 2007, European journal of medical genetics.

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

P. Fergelot, M. Tartaglia, G. Merla, 2022, International journal of molecular sciences.

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy

R. Hofstra, R. Oldenburg, R. L. Lekanne Deprez, 2018, European Journal of Human Genetics.

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

A. Wilde, W. Shimizu, M. Ackerman, 2019, Heart rhythm.

SETBP1 variants outside the degron disrupt DNA-binding and transcription independent of protein abundance to cause a heterogeneous neurodevelopmental disorder

I. Scheffer, B. D. de Vries, S. Fisher, 2022, medRxiv.

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

L. Hoefsloot, E. Korpershoek, J. Saris, 2022, Human mutation.

Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

H. Brunner, L. Hoefsloot, A. Magee, 2008, American journal of medical genetics. Part A.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor

Emmanuel Messas, Luc Mertens, Dmytro Zerbino, 2017, Front. Physiol..

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left‐ventricular outflow tract obstruction

B. D. de Vries, J. Roos‐Hesselink, A. Bertoli-Avella, 2009, American journal of medical genetics. Part A.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2020, Nature Genetics.

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON

A. V. Vulto-van Silfhout, L. Vissers, B. D. de Vries, 2021, European Journal of Human Genetics.

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

L. Hoefsloot, G. Geeven, G. Mancini, 2023, American journal of human genetics.

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

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

J. Belmont, K. Devriendt, Z. Rahimi, 2012, Circulation research.

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

M. Lyons, C. Depienne, R. Person, 2021, Human genetics.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies.

M. Simoons, F. T. ten Cate, K. Caliskan, 2007, European heart journal.

Familial gigantism caused by an NSD1 mutation

N. Rahman, P. Scambler, S. Drop, 2005, American journal of medical genetics. Part A.

Multi-Omics Profiling in Marfan Syndrome: Further Insights into the Molecular Mechanisms Involved in Aortic Disease

Myrthe van den Born, J. Roos‐Hesselink, J. Bekkers, 2021, International journal of molecular sciences.

Blood biomarkers in patients with bicuspid aortic valve disease.

M. Goumans, J. Roos‐Hesselink, M. DeRuiter, 2020, Journal of cardiology.

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

M. Knapen, R. Galjaard, M. Srebniak, 2012, Molecular Cytogenetics.

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

R. Hegde, Myrthe van den Born, A. Bertoli-Avella, 2019, Circulation. Genomic and precision medicine.

Psychological well‐being in patients with aneurysms‐osteoarthritis syndrome

J. Roos‐Hesselink, R. Budde, L. Bons, 2019, American journal of medical genetics. Part A.

Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2013, The Annals of thoracic surgery.

Growth charts for Marfan syndrome in the Netherlands and analysis of genotype–phenotype relationships

Floor A. M. Postema, A. Zwinderman, G. Pals, 2022, American journal of medical genetics. Part A.

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families

R. Hofstra, J. Roos‐Hesselink, K. Lichtenbelt, 2016, Genetics in Medicine.

The (non)Protective Role of Self-Compassion in Internalizing Symptoms: Two Empirical Studies in Adolescents Demonstrating Unwanted Effects of Using the Self-Compassion Scale Total Score

P. Muris, H. Otgaar, I. M. van de Laar, 2020, Mindfulness.

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

L. Hoefsloot, G. Mancini, M. Wilke, 2020, Acta obstetricia et gynecologica Scandinavica.

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Michael A. Burke, N. Brown, P. Lockhart, 2020, American heart journal.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

R. Sinke, R. Hofstra, J. Saffitz, 2016, Journal of the American College of Cardiology.

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.

J. Howe, J. Buxbaum, B. Wirth, 2022, Brain : a journal of neurology.

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome

A. Bertoli-Avella, L. Reynard, I. M. van de Laar, 2014, Osteoarthritis and cartilage.

Variants in DOCK3 cause developmental delay and hypotonia

M. Shinawi, D. Babovic‐Vuksanovic, R. Schnur, 2019, European Journal of Human Genetics.

Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome.

Myrthe van den Born, M. V. van Slegtenhorst, J. H. von der Thüsen, 2018, Circulation. Genomic and precision medicine.

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

Michael T. Zimmermann, Rebecca C. Spillmann, Q. K. Tan, 2021, Nature Genetics.

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

M. Goumans, K. Devriendt, J. Timmermans, 2015, Journal of the American College of Cardiology.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

J. Roos‐Hesselink, B. Bouma, M. Kempers, 2018, International journal of cardiology.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.