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Erin L. Heinzen

University of North Carolina at Chapel Hill
H指数:53
被引数:1.6万

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Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B Gene

长读长测序揭示了一名神经发育障碍患者的复杂重排,涉及ARID1B基因

2025-09-010
PRE
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
2023-12-142
OA
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy
2023-10-238
OA
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构

2023-08-3143
OAAI
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy

内侧颞叶癫痫的罕见遗传变异和手术结果

2023-01-025
OAAI
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery

癫痫的常见风险变异在先前针对罕见单基因变异发现的家庭中富集

2022-07-0112
OAAI
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations

不同基因的体细胞变异导致一系列局灶性皮质畸形

BRAIN
IF11.7
2022-04-2042
OA
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam

左乙拉西坦精神科药物不良反应的药物基因组学评估

2022-04-0114
OAAI
Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions
2022-02-0810
OA
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
2021-11-1912
PREAI
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration

儿童交替性偏瘫: 随时间的演变和小鼠模型的佐证

2021-06-0410
OAAI
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

亚基因不耐受,ClinVar和癫痫: 29,165个人的全外显子组测序研究

2021-06-0143
OAAI
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B: 广泛的神经发育障碍和癫痫严重程度

2021-05-2620
OAAI
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
2021-05-047
OA