University of Texas Health Science Center at Houston Medical Genetics and Genomics/Pediatrics

Residency · Houston, TX

20112026

Topics

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Pediatric neurology · 2021 · 553 citations · Hope Northrup
Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.
Annals of neurology · 2023 · 72 citations · Hope Northrup
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Molecular genetics and metabolism reports · 2024 · 30 citations · Hope Northrup
An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.
Science translational medicine · 2023 · 77 citations · Paul Hillman
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Journal of inherited metabolic disease · 2025 · 22 citations · Heather Saavedra
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.
Nature metabolism · 2023 · 61 citations · Hope Northrup
Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin.
Molecular genetics and metabolism · 2026 · 6 citations · Paige Roberts
Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.
Epilepsia · 2025 · 12 citations · Hope Northrup

Topics

Tuberous Sclerosis Complex Research 83

Folate and B Vitamins Research 19

Metabolism and Genetic Disorders 16

BRCA gene mutations in cancer 15

Spinal Dysraphism and Malformations 12

Genomic variations and chromosomal abnormalities 11

Prenatal Screening and Diagnostics 11

Genetics and Neurodevelopmental Disorders 9

Genomics and Rare Diseases 6

Glycogen Storage Diseases and Myoclonus 6

Genetic Syndromes and Imprinting 5

Fetal and Pediatric Neurological Disorders 4

Most cited

Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.

Pediatric neurology · 2021 · 553 citations · Hope Northrup

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.

Annals of neurology · 2023 · 72 citations · Hope Northrup

Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.

Molecular genetics and metabolism reports · 2024 · 30 citations · Hope Northrup

An ASO therapy for Angelman syndrome that targets an evolutionarily conserved region at the start of the UBE3A-AS transcript.

Science translational medicine · 2023 · 77 citations · Paul Hillman

Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

Journal of inherited metabolic disease · 2025 · 22 citations · Heather Saavedra

Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trial.

Nature metabolism · 2023 · 61 citations · Hope Northrup

Dietetic guidance for nutritional management of people with phenylketonuria receiving sepiapterin.

Molecular genetics and metabolism · 2026 · 6 citations · Paige Roberts

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex.

Epilepsia · 2025 · 12 citations · Hope Northrup