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Dingemans, Alexander
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1

P637: A newly derived DNA methylation signature for Koolen ..:

Awamleh, Zain ; Choufani, Sanaa ; Rots, Dmitrijs...
Genetics in Medicine Open.  2 (2024)  - p. 101543 , 2024
Link: https://doi.org/10.1016/..
 
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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/..
 
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3

Prevalence of comorbidities in individuals with neurodevelo..:

Dingemans, Alexander J. M. ; Jansen, Sandra ; van Reeuwijk, Jeroen...
Nature Medicine.  30 (2024)  7 - p. 1994-2003 , 2024
Link: https://doi.org/10.1038/..
 
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4

Loss-of-function of activity-dependent neuroprotective prot..:

D'Incal, Claudio Peter ; Annear, Dale John ; Elinck, Ellen...
European Journal of Human Genetics.  32 (2024)  6 - p. 630-638 , 2024
Link: https://doi.org/10.1038/..
 
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5

Comprehensive EHMT1 variants analysis broadens genotype-phe..:

Rots, Dmitrijs ; Bouman, Arianne ; Yamada, Ayumi...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1605-1625 , 2024
Link: https://doi.org/10.1016/..
 
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6

A new blood DNA methylation signature for Koolen-de Vries s..:

Awamleh, Zain ; Choufani, Sanaa ; Wu, Wendy...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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7

Pathogenic variants in KMT2C result in a neurodevelopmental..:

Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor...
The American Journal of Human Genetics.  111 (2024)  8 - p. 1626-1642 , 2024
Link: https://doi.org/10.1016/..
 
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8

PhenoScore quantifies phenotypic variation for rare genetic..:

Dingemans, Alexander J. M. ; Hinne, Max ; Truijen, Kim M. G....
Nature Genetics.  55 (2023)  9 - p. 1598-1607 , 2023
Link: https://doi.org/10.1038/..
 
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9

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  10 - p. 100927 , 2023
Link: https://doi.org/10.1016/..
 
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10

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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11

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  11 - p. 100964 , 2023
Link: https://doi.org/10.1016/..
 
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12

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine.  25 (2023)  11 - p. 100962 , 2023
Link: https://doi.org/10.1016/..
 
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13

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine.  24 (2022)  10 - p. 2051-2064 , 2022
Link: https://doi.org/10.1016/..
 
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14

Phenotype based prediction of exome sequencing outcome usin..:

Dingemans, Alexander J.M. ; Hinne, Max ; Jansen, Sandra...
Genetics in Medicine.  24 (2022)  3 - p. 645-653 , 2022
Link: https://doi.org/10.1016/..
 
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15

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M. ; Truijen, Kim M. G. ; van de Ven, Sam...
Translational Psychiatry.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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