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Stacked Colorful Books

KEY PUBLICATIONS

EXPANDING THE PHENOTYPIC SPECTRUM OF THE RECURRENT DE NOVO FBXO31 p.Asp334Asn VARIANT: EVIDENCE FOR A NOVEL NEURODEVELOPMENTAL DISORDER (KRUER SYNDROME)

March 20, 2026

PANK2-MEDIATED DE NOVO COA SYNTHESIS IS REQUIRED FOR METABOLIC SWITCHING TO FATTY ACID OXIDATION

November 18, 2025

RECESSIVE GENOMIC AND PHENOTYPIC VARIATION IN CONSANGUINEOUS FAMILIES WITH CEREBRAL PALSY

November 6, 2025

STIMULATION-RELATED INCREASES IN POWER SPECTRAL DENSITY COVARY WITH CLINICAL EVIDENCE OF OVERSTIMULATION DURING DEEP BRAIN STIMULATION FOR PEDIATRIC DYSTONIA

March 7, 2025

LOCAL FIELD POTENTIAL-BASED PROGRAMMING FOR DEEP BRAIN STIMULATION IN DYT1 DYSTONIA

December 3, 2024

TRAPPC6B BIALLELIC VARIANTS CAUSE A NEURODEVELOPMENTAL DISORDER WITH TRAPP II AND TRAFFICKING DISRUPTIONS

September 15, 2023

CLINICAL ACTIONABILITY OF GENETIC FINDINGS IN CEREBRAL PALSY

September 11, 2023

AGAP1-ASSOCIATED ENDOLYSOSOMAL TRAFFICKING ABNORMALITIES LINK GENE-ENVIRONMENT INTERACTIONS IN NEURODEVELOPMENTAL DISORDERS

September 1, 2023

A TRANSPOSASE-DERIVED GENE REQUIRED FOR HUMAN BRAIN DEVELOPMENT

May 23, 2023

BI-ALLELIC VARIANTS IN SPATA5L1 LEAD TO INTELLECTUAL DISABILITY, SPASTIC-DYSTONIC CEREBRAL PALSY, EPILEPSY, AND HEARING LOSS

October, 2021

MUTATIONS DISRUPTING NEURITOGENESIS GENES CONFER RISK FOR CEREBRAL PALSY

September, 2020

MUTATIONS IN GAMMA ADDUCIN ARE ASSOCIATED WITH INHERITED CEREBRAL PALSY

December, 2013

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