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de Munnik, Sonja A.
63  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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