Erin Heinzen

About Erin Heinzen

Erin Heinzen, With an exceptional h-index of 51 and a recent h-index of 38 (since 2020), a distinguished researcher at University of North Carolina at Chapel Hill, specializes in the field of neuropsychiatric disease genomics.

His recent articles reflect a diverse array of research interests and contributions to the field:

Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

The role of copy number variants in the genetic architecture of common familial epilepsies

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy

Rare genetic variation and outcome of surgery for mesial temporal lobe epilepsy

Loss of Slc35a2 alters development of the mouse cerebral cortex

Erin Heinzen Information

University

Position

Associate Professor, UNC Eshelman School of Pharmacy

Citations(all)

17686

Citations(since 2020)

6790

Cited By

13991

hIndex(all)

51

hIndex(since 2020)

38

i10Index(all)

89

i10Index(since 2020)

79

Email

University Profile Page

Google Scholar

Erin Heinzen Skills & Research Interests

neuropsychiatric disease genomics

Top articles of Erin Heinzen

Somatic variants as a cause of drug‐resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis

Epilepsia

2024/3/16

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene

European Journal of Human Genetics

2024/2

LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants

BMC genomics

2024/1/26

Contribution of somatic Ras/Raf/mitogen-activated protein kinase variants in the hippocampus in drug-resistant mesial temporal lobe epilepsy

JAMA neurology

2023/5/1

Loss of Slc35a2 alters development of the mouse cerebral cortex

Biorxiv

2023/11/30

Mosaic variants detectable in blood extend the clinico-genetic spectrum of GLI3-related hypothalamic hamartoma

Genetics in Medicine Open

2023/1/1

Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy

Nature Genetics

2023/11

Prophecy or empiricism? Clinical value of predicting versus determining genetic variant functions

Epilepsia

2023/11

Brain mosaicism of hedgehog signalling and other cilia genes in hypothalamic hamartoma

2023/8/12

The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders

Molecular Psychiatry

2022/3

Genomic analysis of “microphenotypes” in epilepsy

American Journal of Medical Genetics Part A

2022/1

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

Brain

2022/8/1

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions

Human molecular genetics

2022/7/15

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

EBioMedicine

2022/7/1

A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam

Epilepsia

2022/6

See List of Professors in Erin Heinzen University(University of North Carolina at Chapel Hill)