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1

Dominant CST3 variants cause adult onset leukodystrophy wit..:

Bergner, Caroline G ; Breur, Marjolein ; Soto-Bernardini, M Clara...
Brain. , 2024

Link: https://doi.org/10.1093/..

2

DNA methylation episignature, extension of the clinical fea..:

van der Laan, Liselot ; Karimi, Karim ; Rooney, Kathleen...
Genetics in Medicine. 26 (2024) 3 - p. 101050 , 2024

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

3

Phenotypic spectrum in Weiss-Kruszka syndrome caused by ZNF..:

van der Laan, Liselot ; Kleinendorst, Lotte ; van Hagen, Johanna M...
European Journal of Medical Genetics. 71 (2024) - p. 104964 , 2024

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

4

A second case of glutaminase hyperactivity: Expanding the p..:

Rumping, Lynne ; Pouwels, Petra J. W. ; Wolf, Nicole I....
JIMD Reports. 64 (2023) 3 - p. 217-222 , 2023

Link: https://doi.org/10.1002/..

5

Aquaporin-4 and GPRC5B: old and new players in controlling ..:

Passchier, Emma M J ; Kerst, Sven ; Brouwers, Eelke...
Brain. 146 (2023) 8 - p. 3444-3454 , 2023

Link: https://doi.org/10.1093/..

6

Familial multiple discoid fibromas is linked to a locus on ..:

van de Beek, Irma ; Glykofridis, Iris E. ; Tanck, Michael W. T....
Journal of Human Genetics. 68 (2023) 4 - p. 273-279 , 2023

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

7

A clustering of heterozygous missense variants in the cruci..:

Snijders Blok, Lot ; Verseput, Jolijn ; Rots, Dmitrijs...
Human Genetics and Genomics Advances. 4 (2023) 1 - p. 100157 , 2023

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

8

Variants in the zinc transporterTMEM163cause a hypomyelinat..:

do Rosario, Michelle C ; Bey, Guillermo Rodriguez ; Nmezi, Bruce...
Brain. 145 (2022) 12 - p. 4202-4209 , 2022

Link: https://doi.org/10.1093/..

9

PRDM10directsFLCNexpression in a novel disorder overlapping..:

van de Beek, Irma ; Glykofridis, Iris E ; Oosterwijk, Jan C...
Human Molecular Genetics. 32 (2022) 7 - p. 1223-1235 , 2022

Link: https://doi.org/10.1093/..

10

Recurrent de novo missense variants across multiple histone..:

Tessadori, Federico ; Duran, Karen ; Knapp, Karen...
The American Journal of Human Genetics. 109 (2022) 4 - p. 750-758 , 2022

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

11

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine. 24 (2022) 4 - p. 965 , 2022

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

12

Biallelic variants in the SLC13A1 sulfate transporter gene ..:

van de Kamp, Jiddeke M. ; Bökenkamp, Arend ; Smith, Desiree E. C....
Clinical Genetics. 103 (2022) 1 - p. 45-52 , 2022

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

13

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemi..:

Rizzuto, Valeria ; Koopmann, Tamara T. ; Blanco-Álvarez, Adoración...
Frontiers in Physiology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

14

Fetal akinesia deformation sequence and massive perivillous..:

Tjon, Jill K. ; Lakeman, Phillis ; van Leeuwen, Elisabeth...
Molecular Genetics & Genomic Medicine. 9 (2021) 11 - p. , 2021

Link: https://doi.org/10.1002/..

15

Germline variants in HEY2 functional domains lead to congen..:

van Walree, Eva S. ; Dombrowsky, Gregor ; Jansen, Iris E....
Genetics in Medicine. 23 (2021) 1 - p. 103-110 , 2021

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

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