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Rump, Patrick
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1

DNA methylation episignature for Witteveen-Kolk syndrome du..:

Coenen-van der Spek, Jet ; Relator, Raissa ; Kerkhof, Jennifer...
Genetics in Medicine.  25 (2023)  1 - p. 63-75 , 2023
Link: https://doi.org/10.1016/..
 
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2

Novel MUC1 variant identified by massively parallel sequenc..:

de Haan, Amber ; van Eerde, Albertien M. ; Eijgelsheim, Mark...
Kidney International.  103 (2023)  5 - p. 986-989 , 2023
Link: https://doi.org/10.1016/..
 
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3

Biallelic loss-of-function variants in RABGAP1 cause a nove..:

Oh, Rachel Youjin ; Deshwar, Ashish R. ; Marwaha, Ashish...
Genetics in Medicine.  24 (2022)  11 - p. 2399-2407 , 2022
Link: https://doi.org/10.1016/..
 
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4

MO034: Novel MUC1 variant identified by massively parallel ..:

de Haan, Amber ; Eijgelsheim, Mark ; Rump, Patrick...
Nephrology Dialysis Transplantation.  37 (2022)  Supplement_3 - p. , 2022
Link: https://doi.org/10.1093/..
 
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5

De novo variants in EMC1 lead to neurodevelopmental delay a..:

Chung, Hyung-Lok ; Rump, Patrick ; Lu, Di...
Human Molecular Genetics.  31 (2022)  19 - p. 3231-3244 , 2022
Link: https://doi.org/10.1093/..
 
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6

Quantitative facial phenotyping for Koolen-de Vries and 22q..:

Dingemans, Alexander J. M. ; Stremmelaar, Diante E. ; van der Donk, Roos...
European Journal of Human Genetics.  29 (2021)  9 - p. 1418-1423 , 2021
Link: https://doi.org/10.1038/..
 
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7

Changes in empowerment and anxiety of patients and parents ..:

Vlaskamp, Danique R.M. ; Rump, Patrick ; Callenbach, Petra M.C....
European Journal of Paediatric Neurology.  32 (2021)  - p. 128-135 , 2021
Link: https://doi.org/10.1016/..
 
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8

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
Genetics in Medicine.  23 (2021)  7 - p. 1234-1245 , 2021
Link: https://doi.org/10.1038/..
 
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9

Etiological diagnosis in limb reduction defects and the num..:

Bergman, Jorieke E. H. ; Löhner, Katharina ; van der Sluis, Corry K...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2909-2918 , 2020
Link: https://doi.org/10.1002/..
 
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10

PRRT2-related phenotypes in patients with a 16p11.2 deletio:

Vlaskamp, Danique R.M. ; Callenbach, Petra M.C. ; Rump, Patrick...
European Journal of Medical Genetics.  62 (2019)  4 - p. 265-269 , 2019
Link: https://doi.org/10.1016/..
 
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11

De aanvalspoli voor kinderen in het Martiniziekenhuis: Opze..:

Roelfsema, Vincent ; Doornebal, Nynke ; Arends, Marleen...
Epilepsie, periodiek voor professionals.  17 (2019)  2 - p. 7-9 , 2019
Link: https://doi.org/10.54160..
 
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12

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause I..:

Balak, Chris ; Benard, Marianne ; Schaefer, Elise...
The American Journal of Human Genetics.  105 (2019)  3 - p. 509-525 , 2019
Link: https://doi.org/10.1016/..
 
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13

Genotyperen en fenotyperen van epilepsie bij kinderen:

Callenbach, Petra ; Rump, Patrick
Epilepsie, periodiek voor professionals.  17 (2019)  3 - p. 19-21 , 2019
Link: https://doi.org/10.54160..
 
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14

Mutations in PIK3C2A cause syndromic short stature, skeleta..:

Tiosano, Dov ; Baris, Hagit N. ; Chen, Anlu...
PLOS Genetics.  15 (2019)  4 - p. e1008088 , 2019
Link: https://doi.org/10.1371/..
 
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15

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, Laura V ; Schot, Rachel ; Kasteleijn, Esmee...
Brain.  142 (2019)  4 - p. 867-884 , 2019
Link: https://doi.org/10.1093/..
 
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