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.
The Diverse Genetic Landscape of Neurodevelopmental Disorders
by Hu, Wen F
Annual review of genomics and human genetics, 2014-08-31, Vol.15 (1), p.195-213
3.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
by O’Rawe, Jason A
American journal of human genetics, 2015-12-03, Vol.97 (6), p.922-932
4.
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
5.
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
by Ivanova, Ekaterina L
American journal of human genetics, 2017-09-07, Vol.101 (3), p.428-440
6.
Developmental Dysfunction of VIP Interneurons Impairs Cortical Circuits
by Batista-Brito, Renata
Neuron (Cambridge, Mass.), 2017-08-16, Vol.95 (4), p.884-895.e9
7.
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
by Petrovski, Slavé
American journal of human genetics, 2016-05-05, Vol.98 (5), p.1001-1010
8.
Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6
by Masotti, Andrea
American journal of human genetics, 2015-02-05, Vol.96 (2), p.295-300
9.
The Genetics of Microdeletion and Microduplication Syndromes: An Update
by Watson, Corey T
Annual review of genomics and human genetics, 2014-08-31, Vol.15 (1), p.215-244
10.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway
by Enns, Gregory M
Genetics in medicine, 2014-10, Vol.16 (10), p.751-758
11.
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
by Windpassinger, Christian
American journal of human genetics, 2017-09-07, Vol.101 (3), p.391-403
12.
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
by Boyle, Lia
American journal of human genetics, 2016-06-02, Vol.98 (6), p.1235-1242
13.
In-utero triple antiretroviral exposure associated with decreased growth among HIV-exposed uninfected infants in Botswana
by Powis, Kathleen M
AIDS (London), 2016-01, Vol.30 (2), p.211-220
14.
Early Cognitive Experience Prevents Adult Deficits in a Neurodevelopmental Schizophrenia Model
by Lee, Heekyung
Neuron (Cambridge, Mass.), 2012-08-23, Vol.75 (4), p.714-724
15.
Laron Syndrome (Primary Growth Hormone Resistance or Insensitivity): The Personal Experience 1958–2003
by Laron, Zvi
The journal of clinical endocrinology and metabolism, 2004-03, Vol.89 (3), p.1031-1044
16.
Neural Correlates of Symbolic Number Comparison in Developmental Dyscalculia
by Mussolin, Christophe
Journal of cognitive neuroscience, 2010-05-01, Vol.22 (5), p.860-874
17.
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan–McDermid syndrome (22q13 deletion syndrome)
by Sarasua, Sara M
Journal of medical genetics, 2011-11, Vol.48 (11), p.761-766
18.
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy
by Yin, Xiaomeng
Journal of human genetics, 2018-09, Vol.63 (9), p.971-980
19.
Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
by Kolehmainen, Juha
American journal of human genetics, 2003, Vol.72 (6), p.1359-1369
20.
Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping
by Bruno, D L
Journal of medical genetics, 2011-12, Vol.48 (12), p.831-839
