Sung-Eun Kim

发表

CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression

B. Wlodarczyk, R. Finnell, V. Ramaekers, 2020, Journal of Medical Genetics.

Formate rescues neural tube defects caused by mutations in Slc25a32

B. Wlodarczyk, R. Finnell, R. Cabrera, 2018, Proceedings of the National Academy of Sciences.

Dominant negative GPR161 rare variants are risk factors of human spina bifida

M. Ross, G. Shaw, B. Wlodarczyk, 2018, Human molecular genetics.

Wnt1 Lineage Specific Deletion of Gpr161 Results in Embryonic Midbrain Malformation and Failure of Craniofacial Skeletal Development

B. Wlodarczyk, R. Finnell, Saikat Mukhopadhyay, 2021, Frontiers in Genetics.

Variants identified in PTK7 associated with neural tube defects

G. Shaw, R. Finnell, Huiping Zhu, 2019, Molecular genetics & genomic medicine.

One carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

R. Finnell, J. Steele, Sung-Eun Kim, 2020, Biochimie.

Gene Environment Interactions in the Etiology of Neural Tube Defects

B. Wlodarczyk, R. Finnell, R. Cabrera, 2021, Frontiers in Genetics.

Pax3 lineage-specific deletion of Gpr161 is associated with spinal neural tube and craniofacial malformations during embryonic development

R. Finnell, Rehana Shaik, Sung-Eun Kim, 2023, bioRxiv.

FKBP8 variants are risk factors for spina bifida.

G. Shaw, B. Wlodarczyk, R. Finnell, 2020, Human molecular genetics.