1.
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
by Reijnders, Margot R.F
American journal of human genetics, 2017-09-07, Vol.101 (3), p.466-477
2.
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
by Lamers, Ideke J.C
American journal of human genetics, 2017-11-02, Vol.101 (5), p.824-832
3.
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
by Reijnders, Margot R.F
American journal of human genetics, 2016-02-04, Vol.98 (2), p.373-381
4.
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
by Olson, Heather E
American journal of human genetics, 2018-10-04, Vol.103 (4), p.631-631
5.
Erratum : A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis (The A...
American journal of human genetics, 2018-10-04, Vol.103 (4)
6.
De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
by Reijnders, Margot R.F
American journal of human genetics, 2018-06-07, Vol.102 (6), p.1195
