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Practical matters How to find us drs. E.H. (Erica) Gerkes


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

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma

A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria

Genome sequencing in families with congenital limb malformations

A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

Germline AGO2 mutations impair RNA interference and human neurological development

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum

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