Electroclinical Features of Epilepsy in Kleefstra's Syndrome

Neuronal network dysfunction in a model for Kleefstra syndrome mediated by enhanced NMDAR signaling

(2019) Monica Frega et al.   Nature Communications

Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome

(2018) Volkan Okur et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

(2010) AJ Dawson et al.   CLINICAL GENETICS

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

(2010) MH Willemsen et al.   CLINICAL GENETICS

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

(2009) T Kleefstra et al.   JOURNAL OF MEDICAL GENETICS