1.
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
by Wright, Caroline F, Dr
The Lancet (British edition), 2015, Vol.385 (9975), p.1305-1314
2.
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
by Tatton-Brown, Katrina
American journal of human genetics, 2017-05-04, Vol.100 (5), p.725-736
3.
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
by Faundes, Víctor
American journal of human genetics, 2018-01-04, Vol.102 (1), p.175-187
4.
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
by Kearney, Hutton M.
Genetics in medicine, 2011-07, Vol.13 (7), p.680-685
5.
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
6.
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
by Miller, David T
American journal of human genetics, 2010-05-14, Vol.86 (5), p.749-764
7.
ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013
by South, Sarah T.
Genetics in medicine, 2013-11, Vol.15 (11), p.901-909
8.
A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
by Jacquemont, Sébastien
American journal of human genetics, 2014-03-06, Vol.94 (3), p.415-425
9.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
by Machol, Keren Keren
American journal of human genetics, 2018-12-20, Vol.104 (1), p.164-178
10.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
by Cuvertino, Sara
American journal of human genetics, 2017-12-07, Vol.101 (6), p.1021-1033
11.
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
12.
The GABAA Receptor as a Therapeutic Target for Neurodevelopmental Disorders
by Braat, Sien
Neuron (Cambridge, Mass.), 2015-06-03, Vol.86 (5), p.1119-1130
13.
Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems
by Williams, Stephen R
American journal of human genetics, 2010, Vol.87 (2), p.219-228
14.
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
by Davids, Mariska
American journal of human genetics, 2017-01-05, Vol.100 (1), p.128-137
15.
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
by Arboleda, Valerie A
American journal of human genetics, 2015-03-05, Vol.96 (3), p.498-506
16.
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
17.
Large, rare chromosomal deletions associated with severe early-onset obesity
by Bochukova, Elena G.
Nature (London), 2009-12-06, Vol.463 (7281), p.666-670
18.
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
19.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
by Zufferey, Flore
Journal of medical genetics, 2012-10, Vol.49 (10), p.660-668
20.
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
by Lederer, Damien
American journal of human genetics, 2012-01-13, Vol.90 (1), p.119-124
