Erin L. Heinzen

University of North Carolina at Chapel Hill

Also affiliated with Structural Genomics Consortium

Biochemistry, Genetics and Molecular BiologyMedicine

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 26 papers. Top paper: “Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals”.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics(2013)10.1371/journal.pgen.1003709

N/A

1.0DataRank · unranked

991 citations

Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, Slavé Petrovski

Correction: Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

PLoS Genetics(2013)10.1371/annotation/32c8d343-9e1d-46c6-bfd4-b0cd3fb7a97e

N/A

0.680DataRank · unranked

92 citations

Quanli Wang, Erin L. Heinzen, Andrew S. Allen, David B. Goldstein, SlavÃ© Petrovski

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.009

N/A

0.617DataRank · unranked

60 citations

Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng +95 more

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

Nature Genetics(2023)10.1038/s41588-023-01547-z

N/A

0.489DataRank · unranked

25 citations

Adithe Rivaldi, Noriyuki Shinagawa, Sahibjot Sran, Jason B. Navarro, Jesse J. Westfall +29 more

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

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

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

Brain(2022)10.1093/brain/awac117

N/A

0DataRank · unranked

78 citations

Meethila Gade, Edward Yang, Hyun Yong Koh, Jinfeng Lü, Nicole M Walley +20 more

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

EBioMedicine(2022)10.1016/j.ebiom.2022.104079

N/A

0DataRank · unranked

41 citations

Colin A. Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G. Sadleir +12 more

Somatic Ras/Raf/MAPK Variants Enriched in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy

medRxiv(2022)10.1101/2022.12.23.22283854

N/A

0DataRank · unranked

5 citations

Yilan Wang, Yasmine Chahine, E. Zeynep Erson‐Omay, Stephanie M. Robert, Emre Kiziltug +36 more

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

European Journal of Human Genetics(2023)10.1038/s41431-023-01489-4

N/A

0DataRank · unranked

8 citations

Francesco Danilo Tiziano, Mohamad A. Mikati, Lisanne S. Vijfhuizen, Sophie Nicole, Gaëtan Lesca +19 more

Loss of Slc35a2 alters development of the mouse cerebral cortex

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.29.569243

N/A

0DataRank · unranked

3 citations

Sahibjot Sran, Hyojung Yoon, Rachel Corrigan, John G. Page, Amanda Ringland +8 more

Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families

EBioMedicine(2024)10.1016/j.ebiom.2024.105404

N/A

0DataRank · unranked

30 citations

Ingrid E Scheffer, Colin A. Ellis, Bronwyn E. Grinton, Zaid Afawi, Dina Amrom +43 more

Loss of Slc35a2 alters development of the mouse cerebral cortex

Neuroscience Letters(2024)10.1016/j.neulet.2024.137881

N/A

0DataRank · unranked

18 citations

Sahibjot Sran, Hyojung Yoon, Rachel Corrigan, John G. Page, Amanda Ringland +8 more

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

Epilepsia(2024)10.1111/epi.17943

N/A

0DataRank · unranked

10 citations

Michael G. Doyle, Hugh Kearney, Charles A. Steward, Nicholas Lench, Anthony S. Rogers +19 more

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

UNC Libraries(2024)10.17615/yhhx-wm40

N/A

0DataRank · unranked

0 citations

Mathew B. Harms, Yuk Yee Leung, Camilo Toro, David R. Adams, Erin L. Heinzen +4 more

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

UNC Libraries(2024)10.17615/8wx3-1a14

N/A

0DataRank · unranked

0 citations

Katherine E. Miller, Diana Thomas, Christopher R. Pierson, Gretchen K. Von Allmen, Edward Yang +29 more

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

UNC Libraries(2024)10.17615/a6yq-ff48

N/A

0DataRank · unranked

0 citations

Francesca Brett, Seamus McDonald, Gianpiero L. Cavalleri, Lacey, Austin, Charles A. Steward +19 more

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

UNC Libraries(2024)10.17615/98hm-r135

N/A

0DataRank · unranked

0 citations

Peter Canoll, Anne F. Buckley, Gretchen K. Von Allmen, Hyun Yong Koh, Gerald A. Grant +20 more

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics

Brain(2025)10.1093/brain/awaf198

N/A

0DataRank · unranked

8 citations

Paulina Sosicka, Damian J. Williams, MaryAnn E Bowyer, Andrew K. Ressler, Sarah E. Kohrt +6 more

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

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

USP25 in genetic generalized epilepsy: a gene under scrutiny

Brain(2025)10.1093/brain/awaf406

N/A

0DataRank · unranked

1 citations

Jill R. Murrell, Anna J. Prentice, Ingo Helbig, Holger Lerche, Patrick May +90 more

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects

Brain(2020)10.1093/brain/awaa171

N/A

0DataRank · unranked

81 citations

Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus +86 more

A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate

Frontiers in Physiology(2020)10.3389/fphys.2020.01040

N/A

0DataRank · unranked

14 citations

Lidia Carotenuto, Vincenzo Barrese, Maria Virginia Soldovieri, Erin L. Heinzen, Arthur M. Mandel +8 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

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

Human Molecular Genetics(2021)10.1093/hmg/ddab366

N/A

0DataRank · unranked

20 citations

Joshua E. Motelow, Mark F. Bennett, Zimeng Ye, Caitlin A. Bennett, Nicole G. Griffin +17 more

Somatic mutation involving diverse genes leads to a spectrum of focal cortical malformations

medRxiv(2021)10.1101/2021.12.22.21267563

N/A

0DataRank · unranked

4 citations

Meethila Gade, Edward Yang, Hyun Yong Koh, Nicole M. Walley, Anne F. Buckley +18 more