TY  - GEN
AU  - Srivastava,Siddharth
AU  - Olson,Heather E
AU  - Cohen,Julie S
AU  - Gubbels,Cynthia S
AU  - Lincoln,Sharyn
AU  - Davis,Brigette Tippin
AU  - Shahmirzadi,Layla
AU  - Gupta,Siddharth
AU  - Picker,Jonathan
AU  - Yu,Timothy W
AU  - Miller,David T
AU  - Soul,Janet S
AU  - Poretti,Andrea
AU  - Naidu,SakkuBai
TI  - BRAT1 mutations present with a spectrum of clinical severity
SN  - 1552-4833
PY  - 2017///1019
KW  - Brain
KW  - pathology
KW  - Cerebellum
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - Comparative Genomic Hybridization
KW  - DNA Mutational Analysis
KW  - Epilepsy
KW  - diagnosis
KW  - Exome
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mutation
KW  - Nuclear Proteins
KW  - genetics
KW  - Pedigree
KW  - Phenotype
KW  - Severity of Illness Index
N1  - Publication Type: Case Reports; Journal Article; Review; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/ajmg.a.37783
ER  -