Search details
1.
The choroid plexus links innate immunity to CSF dysregulation in hydrocephalus.
Cell
; 186(4): 764-785.e21, 2023 02 16.
Article
in English
| MEDLINE | ID: mdl-36803604
2.
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis.
Am J Hum Genet
; 110(5): 846-862, 2023 05 04.
Article
in English
| MEDLINE | ID: mdl-37086723
3.
A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.
Brain
; 147(4): 1553-1570, 2024 Apr 04.
Article
in English
| MEDLINE | ID: mdl-38128548
4.
Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.
Cereb Cortex
; 33(6): 3012-3025, 2023 03 10.
Article
in English
| MEDLINE | ID: mdl-35851401
5.
Genomics of human congenital hydrocephalus.
Childs Nerv Syst
; 37(11): 3325-3340, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34232380
6.
Inflammatory hydrocephalus.
Childs Nerv Syst
; 37(11): 3341-3353, 2021 11.
Article
in English
| MEDLINE | ID: mdl-34164718
7.
Genomic medicine for liver disease.
Hepatology
; 76(3): 860-868, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35076957
8.
Concurrent impact of de novo mutations on cranial and cortical development in nonsyndromic craniosynostosis.
J Neurosurg Pediatr
; 33(1): 59-72, 2024 Jan 01.
Article
in English
| MEDLINE | ID: mdl-37890181
9.
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
JAMA Netw Open
; 6(11): e2343384, 2023 Nov 01.
Article
in English
| MEDLINE | ID: mdl-37991765
10.
Human genetics and molecular genomics of Chiari malformation type 1.
Trends Mol Med
; 29(12): 1059-1075, 2023 12.
Article
in English
| MEDLINE | ID: mdl-37802664
11.
Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.
Nat Med
; 29(3): 667-678, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36879130
12.
A novel SMARCC1 -mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus.
medRxiv
; 2023 Mar 20.
Article
in English
| MEDLINE | ID: mdl-36993720
13.
Genetic dysregulation of an endothelial Ras signaling network in vein of Galen malformations.
bioRxiv
; 2023 Mar 21.
Article
in English
| MEDLINE | ID: mdl-36993588
14.
Mutation of key signaling regulators of cerebrovascular development in vein of Galen malformations.
Nat Commun
; 14(1): 7452, 2023 11 17.
Article
in English
| MEDLINE | ID: mdl-37978175
15.
Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus.
J Neurosurg Pediatr
; 29(2): 168-177, 2022 Feb 01.
Article
in English
| MEDLINE | ID: mdl-34715668
16.
Computational Genomics in the Era of Precision Medicine: Applications to Variant Analysis and Gene Therapy.
J Pers Med
; 12(2)2022 Jan 27.
Article
in English
| MEDLINE | ID: mdl-35207663
17.
Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.
Nat Neurosci
; 25(4): 458-473, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35379995
18.
Molecular Genetics and Complex Inheritance of Congenital Heart Disease.
Genes (Basel)
; 12(7)2021 06 30.
Article
in English
| MEDLINE | ID: mdl-34209044
19.
Analysis workflow to assess de novo genetic variants from human whole-exome sequencing.
STAR Protoc
; 2(1): 100383, 2021 03 19.
Article
in English
| MEDLINE | ID: mdl-33748785
20.
Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child.
Nat Med
; 27(9): 1646-1654, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34183838
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