1.
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
2.
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
3.
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
4.
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
5.
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
by Lessel, Davor
American journal of human genetics, 2018-01-04, Vol.102 (1), p.196-196
6.
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
7.
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
8.
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
9.
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.1195-1203
10.
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, 2018-05-03, Vol.102 (5), p.995-1007
11.
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, Vol.102 (5), p.995
12.
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
13.
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
14.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
by Kim, Jung-Hyun
American journal of human genetics, 2016-09-01, Vol.99 (3), p.711-719
15.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
by Snijders Blok, Lot
American journal of human genetics, 2015-08-06, Vol.97 (2), p.343
16.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
by Blok, Lot Snijders
American journal of human genetics, 2015-08-06, Vol.97 (2), p.343-352
17.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
by Blok, Lot Snijders
American journal of human genetics, 2015-08-06, Vol.97 (2), p.343-352
18.
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, 2018-05-03, Vol.102 (5), p.995-1007
