E. Bend

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Aliases
E Bend, Eric G Bend, Eric G. Bend, Eric Bend
Publication record
19 papers · 1,172 citations · H-index 11

PAPERS

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias
20247 citationsauthor #6
P145: Microcephaly in atypical Silver-Russell syndrome caused by defects in PLAG1
20231 citationsauthor #4
ARF1-related disorder: phenotypic and molecular spectrum
20238 citationsauthor #12
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation
20228 citationsauthor #4
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
202246 citationsauthor #65
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
2021125 citationsauthor #64
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
201983 citationsauthor #1
Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.
20195 citationsauthor #1
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
2019156 citationsauthor #2
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
201942 citationsauthor #23
De novo C-terminal truncating mutations in MN1 cause a neurodevelopmental syndrome with distinctive facial features
20190 citationsauthor #20
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
201898 citationsauthor #2
NALCN channelopathies
201627 citationsauthor #1
Glycolytic enzymes localize to synapses under energy stress to support synaptic function
2016235 citationsauthor #3
Axons degenerate in the absence of mitochondria in C. elegans.
201497 citationsauthor #5
SNAREs partner with Sec1/Munc18 proteins to release neurotransmitter at synapses
20140 citationsauthor #1
Syntaxin N-terminal peptide motif is an initiation factor for the assembly of the SNARE–Sec1/Munc18 membrane fusion complex
2010134 citationsauthor #2
Reactions with Dye Free Radicals Reveal Weak Redox Properties of Drugs
20062 citationsauthor #2
Native plant regeneration and introduction of non-natives following post-fire rehabilitation with straw mulch and barley seeding.
200498 citationsauthor #2

TIMELINE

2004 98 citations

2006 2 citations

2010 134 citations

2014 97 citations

2016 262 citations

2018 98 citations

2019 286 citations

2021 125 citations

2022 54 citations

2023 9 citations

2024 7 citations

E. Bend

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