0000-0002-1852-2849 Employment
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Children's National Hospital Clinical Geneticist
Education
Education history is unavailable.
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Publications (34)
- A novel homozygous variant causing fatal neonatal adenylosuccinate lyase (ADSL) deficiency presenting with respiratory failure and encephalopathy Save
- Rare heterozygous de novo variants in RAPGEF2 are associated with a neurodevelopmental disorder Save
- Third Patient With Biallelic Variants in SMAD6 With an Overlapping Phenotype: Developmental Delays, Dysmorphic Features, and Cardiovascular Abnormalities Save
- Pure Distal 7q Duplication: Describing a Macrocephalic Neurodevelopmental Syndrome, Case Report and Review of the Literature Save
- Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers. Save
- Extending the phenotypic spectrum of Bohring‐Opitz syndrome: Mild case confirmed by functional studies Save
- Evidence of GMPPA founder mutation in indigenous Guatemalan population associated with alacrima, achalasia, and mental retardation syndrome. Save
- TFE3‐associated neurodevelopmental disorder: A distinct recognizable syndrome Save
- Unique skeletal manifestations in patients with Primrose syndrome. Save
- Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Save