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1

Genome-Wide Association Study Points to Novel Locus for Gil..:

Tsetsos, Fotis ; Topaloudi, Apostolia ; Jain, Pritesh...
Biological Psychiatry. 96 (2024) 2 - p. 114-124 , 2024

Link: https://doi.org/10.1016/..

2

Unraveling GRIA1 neurodevelopmental disorders: Lessons lear..:

Tvergaard, Nicolai Kohring ; Tkemaladze, Tinatin ; Stödberg, Tommy...
Clinical Genetics. , 2024

Link: https://doi.org/10.1111/..

3

DNA methylation profiling in Kabuki syndrome: reclassificat..:

Niceta, Marcello ; Ciolfi, Andrea ; Ferilli, Marco...
European Journal of Human Genetics. 32 (2024) 7 - p. 819-826 , 2024

Link: https://doi.org/10.1038/..

4

Germline (epi)genetics reveals high predisposition in femal..:

Stoltze, Ulrik Kristoffer ; Hildonen, Mathis ; Hansen, Thomas Van Overeem...
Journal of Medical Genetics. 60 (2023) 9 - p. 842-849 , 2023

Link: https://doi.org/10.1136/..

5

Can polygenic risk scores help explain disease prevalence d..:

Jain, Pritesh R. ; Burch, Myson ; Martinez, Melanie...
BMC Genomic Data. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

6

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome:

Bjerregaard, Victoria A. ; Levy, Amanda M. ; Batz, Mille S....
Genes. 14 (2023) 2 - p. 246 , 2023

Link: https://doi.org/10.3390/..

7

A deep intronic DLG4 variant resulting in DLG4‐related syna..:

Levy, Amanda M. ; Ganapathi, Mythily ; Chung, Wendy K..
Clinical Genetics. 105 (2023) 1 - p. 77-80 , 2023

Link: https://doi.org/10.1111/..

8

Imprinting disorders:

Eggermann, Thomas ; Monk, David ; de Nanclares, Guiomar Perez...
Nature Reviews Disease Primers. 9 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

9

Polygenic risk score-based phenome-wide association study i..:

Jain, Pritesh ; Miller-Fleming, Tyne ; Topaloudi, Apostolia...
Translational Psychiatry. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

10

DNA methylation signature classification of rare disorders ..:

Hildonen, Mathis ; Ferilli, Marco ; Hjortshøj, Tina Duelund...
Clinical Genetics. 103 (2023) 6 - p. 688-692 , 2023

Link: https://doi.org/10.1111/..

11

Generation of eight hiPSCs lines from two pathogenic varian..:

Rivera-Sánchez, Paula ; Søndergaard, Line ; Wathikthinnakon, Methi...
Stem Cell Research. 71 (2023) - p. 103193 , 2023

Link: https://doi.org/10.1016/..

12

Solving the unsolved genetic epilepsies: Current and future..:

Johannesen, Katrine M. ; Tümer, Zeynep ; Weckhuysen, Sarah..
Epilepsia. 64 (2023) 12 - p. 3143-3154 , 2023

Link: https://doi.org/10.1111/..

13

Biochemical analysis of novel NAA10 variants suggests disti..:

McTiernan, Nina ; Tranebjærg, Lisbeth ; Bjørheim, Anna S....
Human Genetics. 141 (2022) 8 - p. 1355-1369 , 2022

Link: https://doi.org/10.1007/..

14

Neurodevelopmental Disorders Associated with PSD-95 and Its..:

Levy, Amanda M. ; Gomez-Puertas, Paulino ; Tümer, Zeynep
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4390 , 2022

Link: https://doi.org/10.3390/..

15

Trans-acting genetic variants causing multilocus imprinting..:

Eggermann, Thomas ; Yapici, Elzem ; Bliek, Jet...
Clinical Epigenetics. 14 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

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