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Tjitske Kleefstra

Professor

Radboud University Medical Center

Netherlands

Research Interests

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Articles (20)

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2024

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Collaborators (23)

Frank Kooy

Professor

University of Antwerp

BELGIUM

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Kornelia Neveling

Radboud University Medical Center

NETHERLANDS

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Katrin Õunap

ESTONIA

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Christiane Zweier

Head

Inselspital Universitätsspital Bern

SWITZERLAND

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Richard H. van Jaarsveld

NETHERLANDS

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Víctor Faundes

profesor/a

Universidad de Chile

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J. R. Harris

UNITED STATES

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M. E. Suzanne Lewis

CANADA

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Tuomo Mantere

Scientific researcher

University of Oulu

FINLAND

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Sally Ann Lynch

IRELAND

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Heiko M. Reutter

University Hospital Bonn

GERMANY

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Bekim Sadikovic

Western University

CANADA

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Philippe Campeau

Professor

faculty of medicine university of montréal montréal canada

CANADA

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Christina Ringmann Fagerberg

Clinical Associate Professor

University of Southern Denmark

DENMARK

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Hieab Adams

university medical center rotterdam

NETHERLANDS

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Frederique Liegeois

University College London

UNITED KINGDOM

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Paul Fisher

Professor and Vice Chair

Stanford University

UNITED STATES

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Alan Beggs

Sir Edwin & Lady Manton Professor

Harvard Medical School

UNITED STATES

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Joseph Buxbaum

Professor

Mount Sinai Hospital

UNITED STATES

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Paul Kruszka

Chief Medical Officer

UNITED STATES

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Tess Levy

Icahn School of Medicine at Mount Sinai

UNITED STATES

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Thomas Smol

FRANCE

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Lottie Morison

Lecturer

University of Melbourne

AUSTRALIA

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Tjitske Kleefstra

Research Interests

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Articles (20)

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

A Genotype/Phenotype Study of <i>KDM5B</i>-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

EHMT2 LOSS-OF-FUNCTION ALTERATIONS CAUSE A KLEEFSTRA-LIKE SYNDROME

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies

Neuropsychological functioning of adults with <i>PTEN</i> hamartoma tumor syndrome

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile

DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care

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

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

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

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency

GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

Collaborators (23)

Frank Kooy

Kornelia Neveling

Katrin Õunap

Christiane Zweier

Richard H. van Jaarsveld

Víctor Faundes

J. R. Harris

M. E. Suzanne Lewis

Tuomo Mantere

Sally Ann Lynch

Heiko M. Reutter

Bekim Sadikovic

Philippe Campeau

Christina Ringmann Fagerberg

Hieab Adams

Frederique Liegeois

Paul Fisher

Alan Beggs

Joseph Buxbaum

Paul Kruszka

Tess Levy

Thomas Smol

Lottie Morison

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