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Wilke, Martina
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1

Exome sequencing in fetuses with congenital diaphragmatic h..:

Weller, Katinka ; Westra, Dineke ; Peters, Nina C. J....
Prenatal Diagnosis.  , 2024
Link: https://doi.org/10.1002/..
 
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2

5,10‐methenyltetrahydrofolate synthetase deficiency: An ext..:

Liepina, Lelde ; Smith, Desiree E. C. ; Huidekoper, Hidde...
JIMD Reports.  65 (2024)  2 - p. 49-55 , 2024
Link: https://doi.org/10.1002/..
 
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3

Response to the comment on Diderich et al. "The role of a m..:

Diderich, Karin E.M. ; Klapwijk, Jasmijn E. ; van der Schoot, Vyne...
European Journal of Medical Genetics.  67 (2024)  - p. 104884 , 2024
Link: https://doi.org/10.1016/..
 
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4

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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5

SLC4A10 mutation causes a neurological disorder associated ..:

Fasham, James ; Huebner, Antje K ; Liebmann, Lutz...
Brain.  146 (2023)  11 - p. 4547-4561 , 2023
Link: https://doi.org/10.1093/..
 
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6

HNRNPC haploinsufficiency affects alternative splicing of i..:

Niggl, Eva ; Bouman, Arjan ; Briere, Lauren C....
The American Journal of Human Genetics.  110 (2023)  8 - p. 1414-1435 , 2023
Link: https://doi.org/10.1016/..
 
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7

The role of a multidisciplinary team in managing variants o..:

Diderich, Karin E.M. ; Klapwijk, Jasmijn E. ; van der Schoot, Vyne...
European Journal of Medical Genetics.  66 (2023)  10 - p. 104844 , 2023
Link: https://doi.org/10.1016/..
 
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8

EAA/EMQN best practice guidelines for molecular diagnosis o..:

Krausz, Csilla ; Navarro‐Costa, Paulo ; Wilke, Martina.
Andrology.  12 (2023)  3 - p. 487-504 , 2023
Link: https://doi.org/10.1111/..
 
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9

Integration of metabolomics with genomics: Metabolic gene p..:

Bongaerts, Michiel ; Bonte, Ramon ; Demirdas, Serwet...
Molecular Genetics and Metabolism.  136 (2022)  3 - p. 199-218 , 2022
Link: https://doi.org/10.1016/..
 
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10

Mucolipidosis type II and type III: a systematic review of ..:

Dogterom, Emma J. ; Wagenmakers, Margreet A.E.M. ; Wilke, Martina...
Genetics in Medicine.  23 (2021)  11 - p. 2047-2056 , 2021
Link: https://doi.org/10.1038/..
 
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11

Heterozygous ANKRD17 loss of function variants cause a synd..:

Chopra, Maya ; McEntagart, Meriel ; Clayton-Smith, Jill...
Molecular Genetics and Metabolism.  132 (2021)  - p. S99 , 2021
Link: https://doi.org/10.1016/..
 
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12

Multidisciplinary interaction and MCD gene discovery. The p..:

Mancini, Grazia M.S. ; Smits, Daphne J. ; Dekker, Jordy...
European Journal of Paediatric Neurology.  35 (2021)  - p. 27-34 , 2021
Link: https://doi.org/10.1016/..
 
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13

De novo TRPV4 Leu619Pro variant causes a new channelopathy ..:

Ragamin, Aviel ; Gomes, Carolina C ; Bindels-de Heus, Karen...
Journal of Medical Genetics.  59 (2021)  3 - p. 305-312 , 2021
Link: https://doi.org/10.1136/..
 
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14

International consensus recommendations on the diagnostic w..:

Oegema, Renske ; Barakat, Tahsin Stefan ; Wilke, Martina...
Nature Reviews Neurology.  16 (2020)  11 - p. 618-635 , 2020
Link: https://doi.org/10.1038/..
 
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15

The potential diagnostic yield of whole exome sequencing in..:

Diderich, Karin E. M. ; Romijn, Kathleen ; Joosten, Marieke...
Acta Obstetricia et Gynecologica Scandinavica.  100 (2020)  6 - p. 1106-1115 , 2020
Link: https://doi.org/10.1111/..
 
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