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Carvill, Gemma L.
143  results:
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1

Clustered de novo start-loss variants in GLUL result in a d..:

Jones, Amy G. ; Aquilino, Matilde ; Tinker, Rory J....
The American Journal of Human Genetics.  111 (2024)  4 - p. 729-741 , 2024
Link: https://doi.org/10.1016/..
 
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2

Genomewide Association Study Identifies Copy Number Variant..:

Zhang, Honghong ; Alarcon, Cristina ; Cavallari, Larisa H....
Clinical Pharmacology & Therapeutics.  113 (2023)  3 - p. 624-633 , 2023
Link: https://doi.org/10.1002/..
 
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3

mTORC1 functional assay reveals SZT2 loss-of-function varia..:

Calhoun, Jeffrey D ; Aziz, Miriam C ; Happ, Hannah C...
Brain.  145 (2022)  6 - p. 1939-1948 , 2022
Link: https://doi.org/10.1093/..
 
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4

Epigenetic genes and epilepsy — emerging mechanisms and cli..:

Van Loo, Karen M. J. ; Carvill, Gemma L. ; Becker, Albert J....
Nature Reviews Neurology.  18 (2022)  9 - p. 530-543 , 2022
Link: https://doi.org/10.1038/..
 
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5

Genetic convergence of developmental and epileptic encephal..:

Carvill, Gemma L ; Jansen, Sandra ; Lacroix, Amy...
Developmental Medicine & Child Neurology.  63 (2021)  12 - p. 1441-1447 , 2021
Link: https://doi.org/10.1111/..
 
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6

Haploinsufficiency, Dominant Negative, and Gain-of-Function..:

Carvill, Gemma L. ; Matheny, Tyler ; Hesselberth, Jay.
Neurotherapeutics.  18 (2021)  3 - p. 1500-1514 , 2021
Link: https://doi.org/10.1007/..
 
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7

Whole‐exome sequencing and adrenocorticotropic hormone ther..:

Demarest, Scott ; Calhoun, Jeff ; Eschbach, Krista...
Developmental Medicine & Child Neurology.  64 (2021)  5 - p. 633-640 , 2021
Link: https://doi.org/10.1111/..
 
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8

Pathogenic mechanisms underlying SLC6A1 variant-mediated ne..:

Cheng, Jennifer Z ; Carvill, Gemma L
Brain.  144 (2021)  8 - p. 2237-2239 , 2021
Link: https://doi.org/10.1093/..
 
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9

Ultrasound-mediated blood–brain barrier opening increases c..:

Zhang, Daniel Y ; Gould, Andrew ; Happ, Hannah C...
Neuro-Oncology Advances.  3 (2021)  1 - p. , 2021
Link: https://doi.org/10.1093/..
 
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10

Oligosaccharyltransferase complex‐congenital disorders of g..:

Bryant, Emily M. ; Millichap, John J. ; Spinelli, Egidio...
American Journal of Medical Genetics Part A.  182 (2020)  6 - p. 1460-1465 , 2020
Link: https://doi.org/10.1002/..
 
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11

CACNA1Hvariants are not a cause of monogenic epilepsy:

Calhoun, Jeffrey D. ; Huffman, Alexandra M. ; Bellinski, Irena...
Human Mutation.  41 (2020)  6 - p. 1138-1144 , 2020
Link: https://doi.org/10.1002/..
 
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12

4478 Not just GLUT1: genome sequencing reveals genetic hete..:

Calhoun, Jeffrey Dennis ; Gunti, Jonathan ; Angione, Katie...
Journal of Clinical and Translational Science.  4 (2020)  s1 - p. 13-13 , 2020
Link: https://doi.org/10.1017/..
 
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13

The path from scientific discovery to cures for epilepsy:

Carvill, Gemma L. ; Dulla, Chris G. ; Lowenstein, Dan H..
Neuropharmacology.  167 (2020)  - p. 107702 , 2020
Link: https://doi.org/10.1016/..
 
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14

Poison exons in neurodevelopment and disease:

Carvill, Gemma L ; Mefford, Heather C
Current Opinion in Genetics & Development.  65 (2020)  - p. 98-102 , 2020
Link: https://doi.org/10.1016/..
 
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15

Free as a BRD4: Bromodomain Inhibition Ameliorates Disease ..:

Lamar, Kay-Marie Joan ; Carvill, Gemma L.
Epilepsy Currents.  20 (2020)  6 - p. 390-392 , 2020
Link: https://doi.org/10.1177/..
 
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