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Nelson-Williams, Carol
1726
results:
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1
Pathogenic variants in autism geneKATNAL2cause hydrocephalu..:
DeSpenza Jr., Tyrone
;
Singh, Amrita
;
Allington, Garrett
...
Proceedings of the National Academy of Sciences. 121 (2024) 27 - p. , 2024
Link:
https://doi.org/10.1073/..
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2
Multiomic analyses implicate a neurodevelopmental program i..:
Kundishora, Adam J.
;
Allington, Garrett
;
McGee, Stephen
...
Nature Medicine. 29 (2023) 3 - p. 667-678 , 2023
Link:
https://doi.org/10.1038/..
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3
Human genetics and molecular genomics of Chiari malformatio..:
Mekbib, Kedous Y.
;
Muñoz, William
;
Allington, Garrett
...
Trends in Molecular Medicine. 29 (2023) 12 - p. 1059-1075 , 2023
Link:
https://doi.org/10.1016/..
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4
The choroid plexus links innate immunity to CSF dysregulati..:
Robert, Stephanie M.
;
Reeves, Benjamin C.
;
Kiziltug, Emre
...
Cell. 186 (2023) 4 - p. 764-785.e21 , 2023
Link:
https://doi.org/10.1016/..
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5
A novel SMARCC1 BAFopathy implicates neural progenitor epig..:
Singh, Amrita K
;
Allington, Garrett
;
Viviano, Stephen
...
Brain. 147 (2023) 4 - p. 1553-1570 , 2023
Link:
https://doi.org/10.1093/..
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6
Mutation of key signaling regulators of cerebrovascular dev..:
Zhao, Shujuan
;
Mekbib, Kedous Y.
;
van der Ent, Martijn A.
...
Nature Communications. 14 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1038/..
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7
A Novel Missense Mutation in ERCC8 Co-Segregates with Cereb..:
Gauhar, Zeeshan
;
Tejwani, Leon
;
Abdullah, Uzma
...
Cells. 11 (2022) 19 - p. 3090 , 2022
Link:
https://doi.org/10.3390/..
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8
De novo mutations in the BMP signaling pathway in lambdoid ..:
Timberlake, Andrew T.
;
Kiziltug, Emre
;
Jin, Sheng Chih
...
Human Genetics. 142 (2022) 1 - p. 21-32 , 2022
Link:
https://doi.org/10.1007/..
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9
PPIL4 is essential for brain angiogenesis and implicated in..:
Barak, Tanyeri
;
Ristori, Emma
;
Ercan-Sencicek, A. Gulhan
...
Nature Medicine. 27 (2021) 12 - p. 2165-2175 , 2021
Link:
https://doi.org/10.1038/..
?
10
Exome Sequencing Implicates Impaired GABA Signaling and Neu..:
Dong, Weilai
;
Jin, Sheng Chih
;
Allocco, August
...
iScience. 23 (2020) 10 - p. 101552 , 2020
Link:
https://doi.org/10.1016/..
?
11
Recessive Inheritance of Congenital Hydrocephalus With Othe..:
Allocco, August A.
;
Jin, Sheng Chih
;
Duy, Phan Q.
...
Frontiers in Cellular Neuroscience. 13 (2019) - p. , 2019
Link:
https://doi.org/10.3389/..
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12
Mutations inTFAP2Band previously unimplicated genes of the ..:
Timberlake, Andrew T.
;
Jin, Sheng Chih
;
Nelson-Williams, Carol
...
Proceedings of the National Academy of Sciences. 116 (2019) 30 - p. 15116-15121 , 2019
Link:
https://doi.org/10.1073/..
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13
Hypokalemia Associated With a Claudin 10 Mutation: A Case R..:
Meyers, Nicole
;
Nelson-Williams, Carol
;
Malaga-Dieguez, Laura
...
American Journal of Kidney Diseases. 73 (2019) 3 - p. 425-428 , 2019
Link:
https://doi.org/10.1053/..
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14
Distal hereditary motor neuronopathy of the Jerash type is ..:
Ververis, Antonis
;
Dajani, Rana
;
Koutsou, Pantelitsa
...
Journal of Medical Genetics. 57 (2019) 3 - p. 178-186 , 2019
Link:
https://doi.org/10.1136/..
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15
Mutations in TFAP2B and previously unimplicated genes of th..:
Timberlake, Andrew T.
;
Jin, Sheng Chih
;
Nelson-Williams, Carol
...
Proceedings of the National Academy of Sciences of the United States of America. 116 (2019) 30 - p. 15116-15121 , 2019
Link:
https://www.jstor.org/st..
1-15