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de Munnik, Sonja A.
63
results:
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Format
Online (63)
Mediatypes
Articles (Online) (22)
OpenAccess-fulltext (41)
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1
Germline ERG haploinsufficiency defines a new syndrome with..:
Zerella, Jiarna Rose
;
Homan, Claire C
;
Arts, Peer
...
Blood Journal. , 2024
Link:
https://doi.org/10.1182/..
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2
Unraveling facets of MECOM-associated syndrome: somatic gen..:
Venugopal, Parvathy
;
Arts, Peer
;
Fox, Lucy C.
...
Blood Advances. 8 (2024) 13 - p. 3437-3443 , 2024
Link:
https://doi.org/10.1182/..
?
3
IGF1 Haploinsufficiency: Phenotype and Response to Growth H..:
Punt, Lauren D.
;
van der Kaay, Daniëlle C.M.
;
van Setten, Petra A.
...
Hormone Research in Paediatrics. , 2024
Link:
https://doi.org/10.1159/..
?
4
Clinical Guideline for Preimplantation Genetic Testing in I..:
Verdonschot, Job A.J.
;
Hellebrekers, Debby M.E.I.
;
van Empel, Vanessa P.M.
...
Circulation: Genomic and Precision Medicine. 17 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1161/..
?
5
TREX tetramer disruption alters RNA processing necessary fo..:
Werren, Elizabeth A.
;
LaForce, Geneva R.
;
Srivastava, Anshika
...
Nature Communications. 15 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1038/..
?
6
All‐in‐one whole exome sequencing strategy with simultaneou..:
Faas, Brigitte H. W.
;
Westra, Dineke
;
de Munnik, Sonja A.
...
Prenatal Diagnosis. 43 (2023) 4 - p. 527-543 , 2023
Link:
https://doi.org/10.1002/..
?
7
Trio-based whole exome sequencing in patients with suspecte..:
Hebert, Anne
;
Simons, Annet
;
Schuurs-Hoeijmakers, Janneke HM
...
eLife. 11 (2022) - p. , 2022
Link:
https://doi.org/10.7554/..
?
8
Clinical impact of additional findings detected by genome-w..:
van Prooyen Schuurman, Lisanne
;
Sistermans, Erik A.
;
Van Opstal, Diane
...
The American Journal of Human Genetics. 109 (2022) 7 - p. 1344 , 2022
Link:
https://doi.org/10.1016/..
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9
Clinical impact of additional findings detected by genome-w..:
van Prooyen Schuurman, Lisanne
;
Sistermans, Erik A.
;
Van Opstal, Diane
...
The American Journal of Human Genetics. 109 (2022) 6 - p. 1140-1152 , 2022
Link:
https://doi.org/10.1016/..
?
10
MCM complex members MCM3 and MCM7 are associated with a phe..:
Knapp, Karen M.
;
Jenkins, Danielle E.
;
Sullivan, Rosie
...
European Journal of Human Genetics. 29 (2021) 7 - p. 1110-1120 , 2021
Link:
https://doi.org/10.1038/..
?
11
Clinical and Functional Consequences of C-Terminal Variants..:
van Geest, Ferdy S
;
Meima, Marcel E
;
Stuurman, Kyra E
...
The Journal of Clinical Endocrinology & Metabolism. 106 (2020) 2 - p. 539-553 , 2020
Link:
https://doi.org/10.1210/..
?
12
De novo variants in FBXO11 cause a syndromic form of intell..:
Jansen, Sandra
;
van der Werf, Ilse M.
;
Innes, A. Micheil
...
European Journal of Human Genetics. 27 (2019) 5 - p. 738-746 , 2019
Link:
https://doi.org/10.1038/..
?
13
Whole exome sequencing in the diagnostic workup of patients..:
Saes, Joline L.
;
Simons, Annet
;
de Munnik, Sonja A.
...
Haemophilia. 25 (2018) 1 - p. 127-135 , 2018
Link:
https://doi.org/10.1111/..
?
14
Toward clinical and molecular understanding of pathogenic v..:
van der Schoot, Vyne
;
de Munnik, Sonja
;
Venselaar, Hanka
...
Molecular Genetics & Genomic Medicine. 6 (2018) 3 - p. 393-400 , 2018
Link:
https://doi.org/10.1002/..
?
15
Functional convergence of histone methyltransferases EHMT1 ..:
Koemans, Tom S.
;
Kleefstra, Tjitske
;
Chubak, Melissa C.
...
PLOS Genetics. 13 (2017) 10 - p. e1006864 , 2017
Link:
https://doi.org/10.1371/..
1-15