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Publications by Tjitske Kleefstra
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay
American Journal of Human Genetics
Genetics
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
American Journal of Human Genetics
Genetics
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
American Journal of Human Genetics
Genetics
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
Cell Reports
Biochemistry
Genetics
Molecular Biology
Cover Image, Volume 39, Issue 12
Human Mutation
Genetics
Characterization of Novel SLC6A8 Variants With the Use of Splice-Site Analysis Tools and Implementation of a Newly Developed LOVD Database
European Journal of Human Genetics
Genetics
Platelet Defects in Congenital Variant of Rett Syndrome Patients With FOXG1 Mutations or Reduced Expression Due to a Position Effect at 14q12
European Journal of Human Genetics
Genetics
3-Methylglutaconic Aciduria—lessons From 50 Genes and 977 Patients
Journal of Inherited Metabolic Disease
Genetics
Structural Variation in Xq28: MECP2 Duplications in 1% of Patients With Unexplained XLMR and in 2% of Male Patients With Severe Encephalopathy
European Journal of Human Genetics
Genetics
