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Megan T. Cho

Heinrich Heine University Dusseldorf
H指数:54
被引数:7,493

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder ( vol 103 , pg 221 , 2018)
2024-05-011
OAAI
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
2021-11-0126
OA
NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain (vol 81, pg 4663, 2021)
2021-11-019
OAAI
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
2021-05-31101
OAAI
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020-12-0451
OAAI
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
2020-07-0134
OAAI
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

与TRAF7种系变异相关的表型谱和转录组谱

2020-07-0124
OAAI
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

人类和果蝇中SETD1A单倍功能不全的表征定义了一种新的神经发育综合征

2020-04-2847
OAAI
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability
2020-02-0443
OA
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
2020-01-2465
OAAI
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
BRAIN
IF11.7
2019-12-1336
OAAI
Redefining the Etiologic Landscape of Cerebellar Malformations
2019-09-0169
OAAI
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (vol 21, pg 601, 2019)
2019-08-010
OAAI
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
BRAIN
IF11.7
2019-07-2038
OAAI
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

AMPA受体GluA2亚基缺陷是神经发育障碍的一个原因

2019-07-12159
OAAI
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome (vol 104, pg 542, 2019)
2019-04-012
OAAI
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
2019-03-0118
OAAI
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
2019-03-0146
OAAI
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment
2019-02-1822
OAAI