Susan M. Hiatt

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From a GeneMatcher-enabled international collaboration, we identified ten individuals affected by intellectual disability, speech delay, ataxia, and facial dysmorphism and carrying a deleterious EBF3 variant detected by whole-exome sequencing. One 9-bp duplication and one splice-site, five missense, and two nonsense variants in EBF3 were found; the(More)
OBJECTIVE To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD) and of germline MTOR mutations in a broad range of epilepsies. METHODS We collected 20 blood-brain paired samples from patients with FCD and searched for somatic variants using deep-targeted gene panel sequencing. Germline mutations in MTOR were assessed in a(More)
Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios. Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated for 612(More)
76 From a GeneMatcher-enabled international collaboration, we identified ten individuals with 77 intellectual disability, speech delay, ataxia and facial dysmorphism and a mutation in EBF3, 78 encoding a transcription factor required for neuronal differentiation. Structural assessments, 79 transactivation assays, in situ fractionation, RNA-seq and ChIP-seq(More)
Michelle L. Thompson, PhD, Candice R. Finnila, PhD, Kevin M. Bowling, PhD, Kyle B. Brothers, MD, PhD, Matthew B. Neu, BS, Michelle D. Amaral, PhD, Susan M. Hiatt, PhD, Kelly M. East, MS, CGC, David E. Gray, MS, James M.J. Lawlor, MS, Whitley V. Kelley, MS, CGC, Edward J. Lose, MD, Carla A. Rich, MA, Shirley Simmons, RN, Shawn E. Levy, PhD1, Richard M.(More)
Truncating mutations including frameshift mutations and nonsense mutations contribute to ~45% of all mutations leading to NF1. However, the extent to which specific mechanisms are involved in causing these mutations has not been well explored yet. Here, we analyzed the frequency and characteristics of 1,924 and 1,731 NF1 individuals carrying frameshift and(More)
Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS)(More)
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