Carol Nelson‐Williams

Yale University — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

47h-index18.4kcitations120works5.22yr avg
OpenAlex↗ORCID↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Ion Transport and Channel Regulation(26), Fetal and Pediatric Neurological Disorders(21), Cerebrospinal fluid and hydrocephalus(15), Hormonal Regulation and Hypertension(15), Genetic and Kidney Cyst Diseases(12)

Publications119 total

Clinical phenotypes among patients with familial forms of Chiari malformation type 1
Journal of Neurosurgery Pediatrics·2025
Mutations in 329 probands with suspected renal electrolyte disorders
2025Open Access
Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes
Proceedings of the National Academy of Sciences·2025· 15 citedOpen Access
2096 Cerebellar Overgrowth Subtype of Chiari Malformation Type 1 and Genetic Dysregulation of PI3K Signaling
Neurosurgery·2025
Recessive genetic contribution to congenital heart disease in 5,424 probands
Proceedings of the National Academy of Sciences·2025· 9 citedOpen Access
PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors
Nature Neuroscience·2025· 8 citedOpen Access
<i>De novo</i> variants disrupt an <i>LDB1</i>-regulated transcriptional network in congenital ventriculomegaly
Brain·2024· 1 citedOpen Access
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
UNC Libraries·2024Open Access
Pathogenic variants in autism gene <i>KATNAL2</i> cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics
Proceedings of the National Academy of Sciences·2024· 8 citedOpen Access
<i>TRIM71</i> mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus
Brain·2024· 16 citedOpen Access
De novo Variants Disrupt an LDB1-Regulated Transcriptional Network in Congenital Ventriculomegaly
SSRN Electronic Journal·2024Open Access
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus
Brain·2023· 15 citedOpen Access
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations
Nature Communications·2023· 22 citedOpen Access
Human genetics and molecular genomics of Chiari malformation type 1
Trends in Molecular Medicine·2023· 13 cited
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy
JAMA Neurology·2023· 67 citedOpen Access
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations
2023· 3 citedOpen Access
A novel <i>SMARCC1</i> -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus
2023· 1 citedOpen Access
Dual impact of PTEN mutation on CSF dynamics and cortical networks via the dysregulation of neural precursors and their interneuron descendants
2023· 2 citedOpen Access
169 Exome Sequencing Implicates Endothelial Ras Signaling Network in Vein of Galen Aneurysmal Malformation
Neurosurgery·2023
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts
Nature Medicine·2023· 15 citedOpen Access
page 1 of 6Next →

Frequent Co-authors

Richard P. Lifton(49), Shrikant Mane(16), Murim Choi(15), Murat Günel(12), Kristopher T. Kahle(12), Anita Farhi(11), Ute I. Scholl(10), Erin Loring(10), Tobias Carling(8), Sheng Chih Jin(8), Michael L. DiLuna(8), Seth L. Alper(7), Keith A. Choate(6), Yin Lu(6), Jungmin Choi(6), Andrew T. Timberlake(6), Qiongshi Lu(6), Kaya Bilgüvar(6), Weilai Dong(6), Charuta G. Furey(6)