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Fenger, Christina D.
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1

Epilepsy as a Novel Phenotype of BPTF-Related Disorders:

Ferretti, Alessandro ; Furlan, Margherita ; Glinton, Kevin E....
Pediatric Neurology.  158 (2024)  - p. 17-25 , 2024
Link: https://doi.org/10.1016/..
 
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2

GABRA1‐Related Disorders: From Genetic to Functional Pathwa..:

Musto, Elisa ; Liao, Vivian W. Y. ; Johannesen, Katrine M....
Annals of Neurology.  95 (2023)  1 - p. 27-41 , 2023
Link: https://doi.org/10.1002/..
 
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3

IRF2BPL as a novel causative gene for progressive myoclonus..:

Gardella, Elena ; Michelucci, Roberto ; Christensen, Hanne M....
Epilepsia.  64 (2023)  8 - p. , 2023
Link: https://doi.org/10.1111/..
 
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4

D-galactose Supplementation for the Treatment of Mild Malfo..:

Aledo-Serrano, Ángel ; Valls-Carbó, Adrián ; Fenger, Christina D....
Neurotherapeutics.  20 (2023)  5 - p. 1294-1304 , 2023
Link: https://doi.org/10.1007/..
 
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5

Neurodevelopmental and Epilepsy Phenotypes in Individuals W..:

Happ, Hannah C. ; Sadleir, Lynette G. ; Zemel, Matthew...
Neurology.  100 (2023)  6 - p. , 2023
Link: https://doi.org/10.1212/..
 
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6

A new neurodevelopmental disorder linked to heterozygous va..:

Bayat, Allan ; Liu, Zhenjiang ; Luo, Sheng...
Genetics in Medicine.  25 (2023)  9 - p. 100894 , 2023
Link: https://doi.org/10.1016/..
 
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7

Impact of Genetic Testing on Therapeutic Decision-Making in..:

Bayat, Allan ; Fenger, Christina D. ; Techlo, Tanya R....
Neurotherapeutics.  19 (2022)  4 - p. 1353-1367 , 2022
Link: https://doi.org/10.1007/..
 
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8

Expanding the pre- and postnatal phenotype of WASHC5 and CC..:

Neri, Sabrina ; Maia, Nuno ; Fortuna, Ana M....
European Journal of Medical Genetics.  65 (2022)  11 - p. 104624 , 2022
Link: https://doi.org/10.1016/..
 
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9

NEXMIF encephalopathy: an X-linked disorder with male and f..:

Stamberger, Hannah ; Hammer, Trine B. ; Gardella, Elena...
Genetics in Medicine.  23 (2021)  2 - p. 363-373 , 2021
Link: https://doi.org/10.1038/..
 
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10

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syn..:

Gjerulfsen, Cathrine E. ; Møller, Rikke S. ; Fenger, Christina D...
European Journal of Medical Genetics.  64 (2021)  7 - p. 104246 , 2021
Link: https://doi.org/10.1016/..
 
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11

Gain-of-function variants in GABRD reveal a novel pathway f..:

Ahring, Philip K ; Liao, Vivian W Y ; Gardella, Elena...
Brain.  145 (2021)  4 - p. 1299-1309 , 2021
Link: https://doi.org/10.1093/..
 
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12

Genotype-phenotype correlations in SCN8A-related disorders ..:

Johannesen, Katrine M ; Liu, Yuanyuan ; Koko, Mahmoud...
Brain.  145 (2021)  9 - p. 2991-3009 , 2021
Link: https://doi.org/10.1093/..
 
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13

Elp2 mutations perturb the epitranscriptome and lead to a c..:

Kojic, Marija ; Gawda, Tomasz ; Gaik, Monika...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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14

Novel congenital disorder of O-linked glycosylation caused ..:

Zilmer, Monica ; Edmondson, Andrew C ; Khetarpal, Sumeet A...
Brain.  143 (2020)  4 - p. 1114-1126 , 2020
Link: https://doi.org/10.1093/..
 
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15

Perturbations in RhoA signalling cause altered migration an..:

Bogetofte, Helle ; Jensen, Pia ; Okarmus, Justyna...
Neurobiology of Disease.  132 (2019)  - p. 104581 , 2019
Link: https://doi.org/10.1016/..
 
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