עקוב אחר
Erin Heinzen
Erin Heinzen
Associate Professor, Eshelman School of Pharmacy
כתובת אימייל מאומתת בדומיין unc.edu
כותרת
צוטט על ידי
צוטט על ידי
שנה
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance
D Ge, J Fellay, AJ Thompson, JS Simon, KV Shianna, TJ Urban, ...
Nature 461 (7262), 399-401, 2009
45102009
De novo mutations in epileptic encephalopathies
Nature 501 (7466), 217-221, 2013
1474*2013
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13672018
HLA-A* 3101 and carbamazepine-induced hypersensitivity reactions in Europeans
M McCormack, A Alfirevic, S Bourgeois, JJ Farrell, D Kasperavičiūtė, ...
New England Journal of Medicine 364 (12), 1134-1143, 2011
10822011
Genic intolerance to functional variation and the interpretation of personal genomes
S Petrovski, Q Wang, EL Heinzen, AS Allen, DB Goldstein
PLoS genetics 9 (8), e1003709, 2013
10132013
A genome-wide investigation of SNPs and CNVs in schizophrenia
AC Need, D Ge, ME Weale, J Maia, S Feng, EL Heinzen, KV Shianna, ...
PLoS genetics 5 (2), e1000373, 2009
5582009
Somatic activation of AKT3 causes hemispheric developmental brain malformations
A Poduri, GD Evrony, X Cai, PC Elhosary, R Beroukhim, MK Lehtinen, ...
Neuron 74 (1), 41-48, 2012
4882012
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood
EL Heinzen, KJ Swoboda, Y Hitomi, F Gurrieri, S Nicole, B de Vries, ...
Nature genetics 44 (9), 1030-1034, 2012
4032012
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
3172014
Tissue-specific genetic control of splicing: implications for the study of complex traits
EL Heinzen, D Ge, KD Cronin, JM Maia, KV Shianna, WN Gabriel, ...
PLoS biology 6 (12), e1000001, 2008
3082008
Rare deletions at 16p13. 11 predispose to a diverse spectrum of sporadic epilepsy syndromes
EL Heinzen, RA Radtke, TJ Urban, GL Cavalleri, C Depondt, AC Need, ...
The American Journal of Human Genetics 86 (5), 707-718, 2010
2792010
De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ...
The American Journal of Human Genetics 99 (2), 287-298, 2016
2512016
Distinct neurological disorders with ATP1A3 mutations
EL Heinzen, A Arzimanoglou, A Brashear, SJ Clapcote, F Gurrieri, ...
The Lancet Neurology 13 (5), 503-514, 2014
2362014
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ...
The American Journal of Human Genetics 105 (2), 267-282, 2019
2302019
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome
MC Manzini, DE Tambunan, RS Hill, WY Tim, TM Maynard, EL Heinzen, ...
The American Journal of Human Genetics 91 (3), 541-547, 2012
2082012
A roadmap for precision medicine in the epilepsies
EpiPM Consortium
The Lancet Neurology 14 (12), 1219-1228, 2015
2052015
The characterization of twenty sequenced human genomes
K Pelak, KV Shianna, D Ge, JM Maia, M Zhu, JP Smith, ET Cirulli, J Fellay, ...
PLoS genetics 6 (9), e1001111, 2010
1982010
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu, P Krithivasan, ...
Nature genetics 51 (1), 117-127, 2019
1942019
Genome-wide mRNA expression correlates of viral control in CD4+ T-cells from HIV-1-infected individuals
M Rotger, KK Dang, J Fellay, EL Heinzen, S Feng, P Descombes, ...
PLoS pathogens 6 (2), e1000781, 2010
1922010
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study
D Kasperavičiūtė, CB Catarino, EL Heinzen, C Depondt, GL Cavalleri, ...
Brain 133 (7), 2136-2147, 2010
1812010
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מאמרים 1–20