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Found 10 results
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Finnell, Richard H
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Journal Article
Wolujewicz P
,
Steele JW
,
Kaltschmidt JA
,
Finnell RH
,
Ross MElizabeth
. 2021.
Unraveling the complex genetics of neural tube defects: From biological models to human genomics and back.
.
Genesis. 59(11):e23459.
Aguiar-Pulido V
,
Wolujewicz P
,
Martinez-Fundichely A
,
Elhaik E
,
Thareja G
,
Aleem AAbdel
,
Chalhoub N
,
Cuykendall T
,
Al-Zamer J
,
Lei Y
et al.
. 2021.
Systems biology analysis of human genomes points to key pathways conferring spina bifida risk.
.
Proc Natl Acad Sci U S A. 118(51)
Crane-Smith Z
,
De Castro SCP
,
Nikolopoulou E
,
Wolujewicz P
,
Smedley D
,
Lei Y
,
Mather E
,
Santos C
,
Hopkinson M
,
Pitsillides AA
et al.
. 2023.
A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.
.
Hum Mol Genet. 32(17):2681-2692.
V RPardo
,
Finnell RH
,
M Ross E
,
Alarcón P
,
Suazo J
. 2024.
Neural tube defects and epigenetics: role of histone post-translational histone modifications.
.
Epigenomics.
Akimova D
,
Wlodarczyk BJ
,
Lin Y
,
M Ross E
,
Finnell RH
,
Chen Q
,
Gross SS
. 2017.
Metabolite profiling of whole murine embryos reveals metabolic perturbations associated with maternal valproate-induced neural tube closure defects.
.
Birth Defects Res. 109(2):106-119.
Cao X
,
Tian T
,
Steele JW
,
Cabrera RM
,
Aguiar-Pulido V
,
Wadhwa S
,
Bhavani N
,
Bi P
,
Gargurevich NH
,
Hoffman EN
et al.
. 2020.
Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.
.
Hum Mutat.
M Ross E
,
Mason CE
,
Finnell RH
. 2017.
Genomic approaches to the assessment of human spina bifida risk.
.
Birth Defects Res. 109(2):120-128.
Wolujewicz P
,
Aguiar-Pulido V
,
AbdelAleem A
,
Nair V
,
Thareja G
,
Suhre K
,
Shaw GM
,
Finnell RH
,
Elemento O
,
M Ross E
. 2021.
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida.
.
Genet Med.
Kim S-E
,
Lei Y
,
Hwang S-H
,
Wlodarczyk BJ
,
Mukhopadhyay S
,
Shaw GM
,
M Ross E
,
Finnell RH
. 2018.
Dominant negative GPR161 rare variants are risk factors of human spina bifida.
.
Hum Mol Genet.
Han X
,
Cao X
,
Aguiar-Pulido V
,
Yang W
,
Karki M
,
Ramirez PAndrea Pim
,
Cabrera RM
,
Lin YLinda
,
Wlodarczyk BJ
,
Shaw GM
et al.
. 2022.
CIC missense variants contribute to susceptibility for spina bifida.
.
Hum Mutat.