Christina A. Gurnett

This study characterizes MYT1L-Related Neurodevelopmental Disorder using data from the Brain Gene Registry, identifying cognitive, behavioral, and clinical features in affected individuals.

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

This study identifies consistent clinical and neural correlates of sensory over-responsivity (SOR) across diverse child samples, showing associations with autistic traits, anxiety, and specific brain connectivity patterns.

This study uses whole-genome sequencing to analyze 9p deletion and duplication syndromes, identifying key genes and structural variants, and introduces a machine learning model for syndrome prediction.

This paper reviews US professional society guidelines for genetic testing in neurodevelopmental disorders and highlights the need for unified, updated, and accessible cross-specialty guidelines.

This study investigates the functional role of MyBP-H in developing vertebrate fast-twitch skeletal muscle using zebrafish and rat models, revealing its involvement in myofilament lattice compression and contractility regulation.

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

This study identifies 69 mutated genes in malformations of cortical development using multiomic profiling of 317 brain resections and single-cell sequencing.

This study identifies genetic subforms of non-obstructive azoospermia using exome sequencing and single-cell RNA sequencing, revealing molecular groups of genes involved in spermatogenesis.

This study uses zebrafish to model TPM2 variants associated with musculoskeletal disorders, finding correlations between variant severity and clinical outcomes.

The paper identifies a de novo missense variant in KCNC2 in two affected siblings with autism and epilepsy using long-read sequencing, showing its potential clinical relevance.

The paper identifies ATRAID as a gene critical for the response to nitrogen-containing bisphosphonates, showing its role in drug efficacy and resistance in osteoporosis.

The paper identifies a homozygous KIF6 mutation in a child with neurocranial defects and intellectual disability, showing its role in ependymal cell cilia maintenance and neuro-cranial development through mouse and zebrafish models.