TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

(2019) Marija Dulovic-Mahlow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TAOK1 negatively regulates IL-17-mediated signaling and inflammation

(2018) Zhaoru Zhang et al.   Cellular & Molecular Immunology

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders

(2018) Caroline F Wright et al.   GENETICS IN MEDICINE

The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function

(2018) Martina Proietti Onori et al.   HUMAN MUTATION

Identifying facial phenotypes of genetic disorders using deep learning

(2018) Yaron Gurovich et al.   NATURE MEDICINE

Emerging genotype–phenotype relationships in patients with large NF1 deletions

(2017) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

(2017) M. R. F. Reijnders et al.   Nature Communications

De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms

(2016) Karin Weiss et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Hippo Pathway Regulates Neuroblasts and Brain Size in Drosophila melanogaster

(2016) Carole L.C. Poon et al.   CURRENT BIOLOGY

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

(2016) Kelly D. Farwell Hagman et al.   GENETICS IN MEDICINE

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

(2016) Stefan H Lelieveld et al.   NATURE NEUROSCIENCE

A novel de novo microdeletion at 17q11.2 adjacent to NF1 gene associated with developmental delay, short stature, microcephaly and dysmorphic features

(2016) Bobo Xie et al.   Molecular Cytogenetics

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability

(2015) Stephen R.F. Twigg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

The 16p11.2 Deletion Mouse Model of Autism Exhibits Altered Cortical Progenitor Proliferation and Brain Cytoarchitecture Linked to the ERK MAPK Pathway

(2015) J. Pucilowska et al.   JOURNAL OF NEUROSCIENCE

I-TASSER server: new development for protein structure and function predictions

(2015) Jianyi Yang et al.   NUCLEIC ACIDS RESEARCH

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Drosophila tao Controls Mushroom Body Development and Ethanol-Stimulated Behavior through par-1

(2011) I. King et al.   JOURNAL OF NEUROSCIENCE

In Utero Electroporation as a Tool For Genetic Manipulation In Vivo to Study Psychiatric Disorders

(2011) Yu Taniguchi et al.   NEUROSCIENTIST

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE