Hope A. Northrup

Electroencephalographic Transient Beta Event Rates in Autism and Related Neurogenetic Conditions.

Journal: medRxiv : the preprint server for health sciences

Published: August 20, 2026

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

Journal: Research square

Published: July 10, 2026

From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex.

Journal: Pediatric neurology

Published: May 07, 2026

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features.

Journal: American journal of medical genetics. Part A

Published: March 05, 2026

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.

Journal: Pediatric neurology

Published: December 29, 2025

Expanding the Phenotype of SETD5-Related Disorder Through a Facebook Support Group.

Journal: Pediatric neurology

Published: December 19, 2025

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

Journal: Orphanet journal of rare diseases

Published: December 15, 2025

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.

Journal: Computers in biology and medicine

Published: November 17, 2025

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Journal: Human molecular genetics

Published: November 07, 2025

Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin.

Journal: BMC neurology

Published: November 03, 2025

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.

Journal: Annals of the Child Neurology Society

Published: September 07, 2025

Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.

Journal: American journal of medical genetics. Part A

Published: August 27, 2025

Electroencephalographic Transient Beta Event Rates in Autism and Related Neurogenetic Conditions.

Electroencephalographic Transient Beta Event Rates in Autism and Related Neurogenetic Conditions.

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.

From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex.

From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex.

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features.

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features.

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study.

Expanding the Phenotype of SETD5-Related Disorder Through a Facebook Support Group.

Expanding the Phenotype of SETD5-Related Disorder Through a Facebook Support Group.

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

Development of a face-validated conceptual model structure for economic evaluation in phenylketonuria, through expert elicitation.

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

SUPT16H-associated neurodevelopmental disorder and neurocristopathy: genetic and phenotypic spectrum.

Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin.

Early neurodevelopmental outcomes in a child with tuberous sclerosis complex treated with everolimus and vigabatrin.

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex.

Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.

Refining Domain-Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant.

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.