• Publications
  • Influence
Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development
TLDR
The largest clinical cohort to date with DDX3X mutations is reported, demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcomes and showing that Ddx3x controls cortical development by regulating neuronal generation and migration. Expand
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy
TLDR
To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children, an international team of scientists and clinicians are using a novel approach called “big data” to solve the mystery of “why children’s brains are mummified”. Expand
Genomic and phenotypic delineation of congenital microcephaly
TLDR
This study refines the phenotype of CM, expands its genetics heterogeneity, and informs the workup of children born with this developmental brain defect. Expand
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
TLDR
The findings suggest that mutations in RERE cause a genetic syndrome and that haploinsufficiency of RERE might be sufficient to cause many of the phenotypes associated with proximal 1p36 deletions. Expand
Genotype–phenotype correlations in individuals with pathogenic RERE variants
TLDR
It is concluded that mutations affecting RERE result in a spectrum of clinical phenotypes and Genotype–phenotype correlations exist and can be used to guide medical decision making. Expand
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
TLDR
It is proposed that haploinsufficiency of NFIB causes ID with macrocephaly, and a cortex-specific Nfib conditional knockout mouse model, which is postnatally viable, is analyzed. Expand
Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
TLDR
The largest clinical cohort to date with DDX3X mutations is reported, demonstrating a striking correlation between recurrent dominant missense mutations, polymicrogyria, and the most severe clinical outcomes, and it is shown that Ddx3x controls cortical development by regulating neuron generation. Expand
Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions
TLDR
It is suggested that 16p11.2 deletion carriers have fundamental impairments in the basic mechanisms of speech motor control and these impairments may partially explain the deficits in speech and language in these individuals. Expand
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
TLDR
Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation, suggesting that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation. Expand
Effects of eight neuropsychiatric copy number variants on human brain structure
TLDR
Although CNVs mainly showed distinct brain patterns, principal component analysis loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. Expand
...
1
2
...