Area of research
Physiology · Genetics
Research interest
Research interests include Medicine, Biology, Genetics, Genetic enhancement, Disease, and Proband.
An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser
AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice
AAV gene therapy for Tay-Sachs disease
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases
Lysosomal storage diseases
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features
Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients
Functional performance in late-onset GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases), longitudinal data over 3 consecutive years
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
De novo missense variants in <i>HECW2</i> are associated with neurodevelopmental delay and hypotonia
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
<i>GRIN2A</i> mutation and early‐onset epileptic encephalopathy: personalized therapy with memantine
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity
Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia
Detecting false-positive signals in exome sequencing