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Relator, Raissa
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1

Refining the 9q34.3 microduplication syndrome reveals mild ..:

Rots, Dmitrijs ; Rooney, Kathleen ; Relator, Raissa...
Clinical Genetics.  105 (2024)  6 - p. 655-660 , 2024
Link: https://doi.org/10.1111/..
 
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2

Blepharophimosis with intellectual disability and Helsmoort..:

Sarli, Camilla ; van der Laan, Liselot ; Reilly, Jack...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  , 2024
Link: https://doi.org/10.1002/..
 
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3

Identification of DNA methylation episignature for the inte..:

Karimi, Karim ; Mol, Merel O. ; Haghshenas, Sadegheh...
Genetics in Medicine.  26 (2024)  3 - p. 101041 , 2024
Link: https://doi.org/10.1016/..
 
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4

The detection of a strong episignature for Chung–Jansen syn..:

Vos, Niels ; Haghshenas, Sadegheh ; van der Laan, Liselot...
Human Genetics.  143 (2024)  6 - p. 761-773 , 2024
Link: https://doi.org/10.1007/..
 
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5

Identification of the DNA methylation signature of Mowat-Wi..:

Caraffi, Stefano Giuseppe ; van der Laan, Liselot ; Rooney, Kathleen...
European Journal of Human Genetics.  32 (2024)  6 - p. 619-629 , 2024
Link: https://doi.org/10.1038/..
 
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6

Diagnostic utility and reporting recommendations for clinic..:

Kerkhof, Jennifer ; Rastin, Cassandra ; Levy, Michael A....
Genetics in Medicine.  26 (2024)  5 - p. 101075 , 2024
Link: https://doi.org/10.1016/..
 
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7

MSL2 variants lead to a neurodevelopmental syndrome with la..:

Karayol, Remzi ; Borroto, Maria Carla ; Haghshenas, Sadegheh...
The American Journal of Human Genetics.  111 (2024)  7 - p. 1330-1351 , 2024
Link: https://doi.org/10.1016/..
 
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8

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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9

DNA methylation episignature and comparative epigenomic pro..:

van der Laan, Liselot ; Lauffer, Peter ; Rooney, Kathleen...
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100289 , 2024
Link: https://doi.org/10.1016/..
 
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10

SRSF1 haploinsufficiency is responsible for a syndromic dev..:

Bogaert, Elke ; Garde, Aurore ; Gautier, Thierry...
The American Journal of Human Genetics.  110 (2023)  5 - p. 790-808 , 2023
Link: https://doi.org/10.1016/..
 
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11

Identification of a robust DNA methylation signature for Fa..:

Pagliara, Daria ; Ciolfi, Andrea ; Pedace, Lucia...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1938-1949 , 2023
Link: https://doi.org/10.1016/..
 
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12

Identification of a DNA methylation signature for Renpennin..:

Haghshenas, Sadegheh ; Foroutan, Aidin ; Bhai, Pratibha...
European Journal of Human Genetics.  31 (2023)  8 - p. 879-886 , 2023
Link: https://doi.org/10.1038/..
 
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13

DNA methylation episignature and comparative epigenomic pro..:

Rooney, Kathleen ; van der Laan, Liselot ; Trajkova, Slavica...
Genetics in Medicine.  25 (2023)  8 - p. 100871 , 2023
Link: https://doi.org/10.1016/..
 
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14

Functional Insight into and Refinement of the Genomic Bound..:

van der Laan, Liselot ; Rooney, Kathleen ; Haghshenas, Sadegheh...
International Journal of Molecular Sciences.  24 (2023)  18 - p. 14240 , 2023
Link: https://doi.org/10.3390/..
 
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15

P657: NSD2 duplication results in distinct phenotype and DN..:

Hilton, Benjamin ; Sadikovic, Bekim ; Brusco, Alfredo...
Genetics in Medicine Open.  1 (2023)  1 - p. 100722 , 2023
Link: https://doi.org/10.1016/..
 
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