M. Alders

P. Platonov, M. Alders, E. Fernlund, 2013, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Somatic mosaicism contributes to phenotypic variation in Timothy syndrome

A. Wilde, A. Rope, M. Tristani-Firouzi, 2011, American journal of medical genetics. Part A.

Enhancing the Predictive Power of Mutations in the C-Terminus of the KCNQ1-Encoded Kv7.1 Voltage-Gated Potassium Channel

T. Callis, A. Wilde, Jamie D. Kapplinger, 2015, Journal of Cardiovascular Translational Research.

The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

A. Wilde, N. Blom, N. Hofman, 2009, Pediatric Cardiology.

The human Achaete-Scute homologue 2 (ASCL2,HASH2) maps to chromosome 11p15.5, close to IGF2 and is expressed in extravillus trophoblasts.

F. Guillemot, P. Little, A. Hadjantonakis, 1997, Human molecular genetics.

A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity.

M. van der Burg, R. V. van Lier, T. Kuijpers, 2011, The Journal of allergy and clinical immunology.

UvA-DARE ( Digital Academic Repository ) The Role of the Epinephrine Test in the Diagnosis and Management of Children Suspected of Having Congenital Long QT Syndrome

A. Wilde, N. Blom, N. Hofman, 2010 .

Gender differences in the long QT syndrome: effects of beta-adrenoceptor blockade.

A. Wilde, T. Opthof, M. Alders, 2002, Cardiovascular research.

SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?

R. Hennekam, T. Kuijpers, C. Mellink, 2004, Cancer genetics and cytogenetics.

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

H. Waterham, H. van Lenthe, A. Heijboer, 2020, Frontiers in Cell and Developmental Biology.

Sodium Channelopathies: Do We Really Understand What's Going On?

A. Wilde, P. Postema, A. Wilde, 2011, Journal of cardiovascular electrophysiology.

Growth regulation of extraembryonic tissues. The effect of genomic imprinting on development of the placenta.

B. Westerman, M. Alders, M. Mannens, 1997, European journal of obstetrics, gynecology, and reproductive biology.

Gender differences in the long QT syndrome: Effects of β-adrenoceptor blockade

A. Wilde, T. Opthof, M. Alders, 2002 .

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

A. V. van Kuilenburg, R. Hennekam, R. Artuch, 2019, JIMD reports.

Mutations in TBL1X Are Associated With Central Hypothyroidism

W. Dreschler, R. Hennekam, E. Fliers, 2016, The Journal of clinical endocrinology and metabolism.

genotype-phenotype relationship Hematologic abnormalities in Shwachman Diamond syndrome: lack of

T. Kuijpers, C. Mellink, A. Tool, 2013 .

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

R. Hennekam, T. Prescott, L. Al-Gazali, 2009, Nature Genetics.

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

N. Lahrouchi, M. Alders, A. Sefiani, 2017, Journal of Medical Case Reports.

Molecular basis of unilateral condylar hyperplasia?

R. Hennekam, M. Alders, J. Nolte, 2020, International journal of oral and maxillofacial surgery.

Unilateral condylar hyperplasia in hemifacial hyperplasia, is there genetic proof of overgrowth?

R. Hennekam, M. Alders, J. Nolte, 2020, International journal of oral and maxillofacial surgery.

Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9

C. Nichols, M. Alders, I. Christiaans, 2022, European Journal of Human Genetics.

Guidelines for diagnostic next-generation sequencing

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

PTEN hamartoma tumor syndrome and Gorham–Stout phenomenon

R. Hennekam, C. Eng, S. Hopman, 2012, American journal of medical genetics. Part A.

Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia.

R. Pieters, A. Baruchel, D. Reinhardt, 2009, Blood.

myeloid leukemia gene mutations in childhood acute Wilms tumor 1 Clinical relevance of

R. Pieters, D. Reinhardt, C. Zwaan, 2009 .

Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Arjan Bouman, M. Alders, M. V. van Maarle, 2017, American journal of medical genetics. Part A.

No prognostic impact of the WT1 gene single nucleotide polymorphism rs16754 in pediatric acute myeloid leukemia.

R. Pieters, A. Baruchel, D. Reinhardt, 2010, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression

M. Weerts, M. Alders, D. Veenma, 2022, American journal of medical genetics. Part A.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

R. Hennekam, D. Lev, M. Vikkula, 2012, Molecular Syndromology.

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.

R. Hennekam, J. Allanson, D. Lacombe, 2002, American journal of medical genetics.

A genome-wide DNA methylation signature for SETD1B-related syndrome

Hyung-Goo Kim, N. Matsumoto, A. Essen, 2019, Clinical Epigenetics.

A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation

L. Looijenga, H. Stoop, S. White, 2012, PloS one.

Shwachman–Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

L. de Meirleir, A. Kolivras, M. Alders, 2016, American journal of medical genetics. Part A.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Douglas P. Larsen, D. Nickerson, M. Bamshad, 2018, American journal of human genetics.

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

J. Lupski, D. Muzny, S. Jhangiani, 2016, American journal of human genetics.

An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality

R. Sadreyev, J. Denu, R. Mostoslavsky, 2018, Genes & development.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype

R. Pfundt, H. Peeters, D. Horn, 2016, American journal of medical genetics. Part A.

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes

R. Hennekam, L. Garavelli, M. Alders, 2018, American journal of medical genetics. Part A.

Episignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome

S. Julia, D. Wieczorek, H. Van Esch, 2022, International journal of molecular sciences.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Ivan K. Chinn, R. Pfundt, B. D. de Vries, 2021, Genetics in Medicine.

Guidelines for diagnostic next-generation sequencing

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

Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean

L. T. van der Veken, Ginette M Ecury-Goossen, M. Alders, 2022, American journal of medical genetics. Part A.

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.

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

R. Stevenson, C. Schwartz, S. Skinner, 2021, Genetics in Medicine.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Timothy J. Edwards, Ryan J. Dean, H. Peeters, 2018, American journal of human genetics.

Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2.

P F Little, Y. Nakamura, K. Davies, 1997, Genomics.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

J. Towbin, J. Brugada, R. Brugada, 2010, Heart rhythm.

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood.

C. M. van der Horst, M. Alders, M. Mannens, 2014, European journal of medical genetics.

Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS.

J. Ruijter, R. Hennekam, R. Hennekam, 2001, Human molecular genetics.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

F. Rezwan, D. Mackay, M. Alders, 2019, Clinical Epigenetics.

Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors.

A. Feinberg, P. Little, M. Steenman, 1996, Medical and pediatric oncology.

KCNQ1OT1 hypomethylation: A Novel disguised genetic predisposition in sporadic pediatric adrenocortical tumors?

A. Wagner, M. Alders, M. V. D. van den Heuvel-Eibrink, 2012, Pediatric blood & cancer.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, npj Genomic Medicine.

Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood

R. Stevenson, K. Doheny, V. Narayanan, 2021, NPJ genomic medicine.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2020, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) Spermatogenic failure . A genetic

L. Hoefsloot, J. Kremer, M. Alders, 2007 .

Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up.

A. Wilde, H. Tan, N. Hofman, 2014, Heart rhythm.

Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.

A. Wilde, H. Tan, N. Hofman, 2010, Heart rhythm.

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.

Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders

P. Deriziotis, S. Fisher, N. Matsumoto, 2017, Human mutation.

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.

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

Michael J Ackerman, Marielle Alders, A. Wilde, 2012, Circulation. Cardiovascular genetics.

Intellectual Disability and Hemizygous GPD2 Mutation

R. Hennekam, D. Barge-Schaapveld, M. Alders, 2013, American journal of medical genetics. Part A.

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia

Angela C. M. Luyf, S. Lovell, S. Ferdinandusse, 2019, Brain : a journal of neurology.

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

T. Koopmann, C. Bezzina, A. Wilde, 2006, Heart rhythm.

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder

A. MacInnes, T. Kuijpers, R. Houtkooper, 2019, Cold Spring Harbor molecular case studies.

Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.

C. Lelliott, B. Yalcin, P. Grant, 2020, American journal of human genetics.

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

M. Shaw, N. de Leeuw, J. Gécz, 2021, American journal of human genetics.

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

F. Baas, J. Auwerx, H. Waterham, 2017, bioRxiv.

Yield of Molecular and Clinical Testing for Arrhythmia Syndromes: Report of 15 Years’ Experience

Hanno L. Tan, H. Tan, A. Wilde, 2013, Circulation.

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship.

R. Hennekam, T. Kuijpers, C. Mellink, 2005, Blood.

Variable Clinical expressivity of STAT3 Mutation in Hyperimmunoglobulin E Syndrome: Genetic and Clinical Studies of Six Patients

T. Kuijpers, R. Gavrieli, M. Alders, 2014, Journal of Clinical Immunology.

Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome

R. Hennekam, T. Kuijpers, M. Alders, 2004, Pediatrics.

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

T. Kuijpers, M. Alders, A. Bosch, 2017, Front. Pediatr..

Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?

A. V. van Kuilenburg, R. Hennekam, M. Huemer, 2017, JIMD reports.

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome

P. Postema, A. Wilde, N. Hofman, 2010, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome

A. Wilde, M. Alders, R. Jongbloed, 2003, Journal of medical genetics.

Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

A. Wilde, D. Tester, B. Salisbury, 2010, Heart rhythm.

Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?

H. Tan, A. Wilde, N. Hofman, 2010, Journal of the American College of Cardiology.

Genetic Testing for Long-QT Syndrome: Distinguishing Pathogenic Mutations From Benign Variants

Michael J Ackerman, Suraj Kapa, Marielle Alders, 2009, Circulation.

Exclusion of multiple candidate genes and large genomic rearrangements in SCN5A in a Dutch Brugada syndrome cohort.

A. Moorman, T. Koopmann, C. Bezzina, 2007, Heart rhythm.

Cloning of candidate genes involved in the Beckwith-Wiedemann syndrome and childhood tumors.

A. Feinberg, P. Little, A. Westerveld, 1996, Medical and pediatric oncology.

Genomic imprinting: concept and clinical consequences.

M. Alders, M. Mannens, 1999, Annals of medicine.

Prenatal NeuN+ neurons of Down syndrome display aberrant integrative DNA methylation and gene expression profiles.

M. Alders, M. Mannens, A. Mul, 2022, Epigenomics.

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome

R. Pfundt, Philippe M. Campeau, B. Isidor, 2022, International journal of molecular sciences.

Clues for Polygenic Inheritance of Pituitary Stalk Interruption Syndrome From Exome Sequencing in 20 Patients

R. Hennekam, E. Fliers, A. Jongejan, 2018, The Journal of clinical endocrinology and metabolism.

Wilms’ Tumor 1 Gene Mutations in Childhood Acute Myeloid Leukemia: A New Prognostic factor with Implications for MRD Detection

R. Pieters, A. Baruchel, D. Reinhardt, 2008 .

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

D. Barge-Schaapveld, I. B. Mathijssen, M. Alders, 2012, Molecular Cytogenetics.

Aberrant humoral immune reactivity in DOCK8 deficiency with follicular hyperplasia and nodal plasmacytosis.

R. V. van Lier, T. Kuijpers, M. Alders, 2013, Clinical immunology.

Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

D. Barge-Schaapveld, I. B. Mathijssen, M. Alders, 2012, Molecular Cytogenetics.

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

K., Lin, H., 2020, European Journal of Human Genetics.

A Mutation in CALM 1 Encoding Calmodulin in Familial Idiopathic Ventricular Fibrillation in Childhood and Adolescence

J. Barc, C. Bezzina, A. Wilde, 2022 .

Expanding Spectrum of Human RYR2-Related Disease: New Electrocardiographic, Structural, and Genetic Features

A. Wilde, M. P. van den Berg, A. Wilde, 2007, Circulation.

Mortality of Inherited Arrhythmia Syndromes: Insight Into Their Natural History

A. Wilde, E. Sijbrands, M. Alders, 2012, Circulation. Cardiovascular genetics.

Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.

A. Wilde, S. Kääb, B. Beckmann, 2017, Forensic science international.

Haplotype-sharing analysis implicates chromosome 7q36 harboring DPP6 in familial idiopathic ventricular fibrillation.

P. Postema, K. Zeppenfeld, K. Koch, 2009, American journal of human genetics.

Characterization of SEMA3A-Encoded Semaphorin as a Naturally Occurring Kv4.3 Protein Inhibitor and its Contribution to Brugada Syndrome

J. Nerbonne, P. Schwartz, A. Wilde, 2014, Circulation research.

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Jørgen K. Kanters, E. Kaufman, A. Moss, 2016, Circulation.

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

S. Robertson, P. Tarpey, C. Skinner, 2022, European Journal of Human Genetics.

Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

R. Stevenson, C. Schwartz, S. Skinner, 2021, Genetics in Medicine.

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

F. Baas, S. Ferdinandusse, R. Wanders, 2018, European Journal of Human Genetics.

Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.

K. Sliwa, D. J. Veldhuisen, R. Sinke, 2014, European heart journal.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant

S. Robertson, J. Saris, M. V. van Slegtenhorst, 2021, American journal of medical genetics. Part A.

Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal

A. Moorman, M. Alders, A. Postma, 2013, Journal of Medical Genetics.

A genome-wide DNA methylation signature for SETD1B-related syndrome

N. Matsumoto, H. Saitsu, B. Sadikovic, 2019, Clinical epigenetics.

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

F. Rezwan, D. Mackay, M. Alders, 2019, Clinical Epigenetics.

Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

Katherine L Hill-Harfe, C. Angelini, G. Ferrero, 2019, Genetics in Medicine.

Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6

A. Wilde, P. Postema, K. Zeppenfeld, 2011, Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation.

Contribution of Inherited Heart Disease to Sudden Cardiac Death in Childhood

A. Wilde, H. Tan, N. Hofman, 2007, Pediatrics.

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Jill A. Madden, J. Rosenfeld, J. R. Younce, 2023, medRxiv.

Increase in central striatal dopamine transporters in patients with Shwachman–Diamond syndrome: Additional evidence of a brain phenotype

L. Reneman, T. Kuijpers, J. Booij, 2013, American journal of medical genetics. Part A.

Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?

H. Tan, A. Wilde, N. Hofman, 2010, Journal of the American College of Cardiology.

Mutations in TBL1X Are Associated With Central Hypothyroidism

W. Dreschler, R. Hennekam, E. Fliers, 2016, The Journal of clinical endocrinology and metabolism.

Human MASH2 (HASH2) maps to chromosome 11p15 and is expressed in extravillus trophoblast

P. Little, A. Hadjantonakis, J. Postmus, 1996 .

Understanding cardiac electrical phenotypes in the genomic era

A. Wilde, P. Lichtner, T. Koopmann, 2015 .

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Derick R. Peterson, Jørgen K. Kanters, E. Kaufman, 2016, Circulation.

clinical aspects of type 3 long-Qt syndrome an international Multicenter study