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Sadikovic, Bekim
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1

Haploinsufficiency of ZFHX3, encoding a key player in neuro..:

Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies...
The American Journal of Human Genetics.  111 (2024)  3 - p. 509-528 , 2024
Link: https://doi.org/10.1016/..
 
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2

Novel PUF60 variant suggesting an interaction between Verhe..:

Hoogenboom, Amarens ; Falix, Farah A. ; van der Laan, Liselot...
European Journal of Human Genetics.  32 (2024)  4 - p. 435-439 , 2024
Link: https://doi.org/10.1038/..
 
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3

Epigenomic mechanisms and episignature biomarkers in rare d..:

, In: Epigenetics in Human Disease,
McConkey, Haley ; Sadikovic, Bekim - p. 1031-1076 , 2024
Link: https://doi.org/10.1016/..
 
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4

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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5

Contributors:

, In: Epigenetics in Human Disease,
Araki, Yasuto ; Beristain-Pozos, Juan Daniel ; Bhadra, Mridula... - p. xvii-xxiii , 2024
Link: https://doi.org/10.1016/..
 
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6

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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7

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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8

De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralog..:

Bukvic, Nenad ; De Rinaldis, Marta ; Chetta, Massimiliano...
Genes.  15 (2024)  7 - p. 826 , 2024
Link: https://doi.org/10.3390/..
 
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9

Clinical Features and Long-Term Outcomes of a Pan-Canadian ..:

England, James T. ; Szuber, Natasha ; Sirhan, Shireen...
Leukemia.  38 (2024)  3 - p. 570-578 , 2024
Link: https://doi.org/10.1038/..
 
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10

Diagnostic utility of DNA methylation episignature analysis..:

Bouhamdani, Nadia ; McConkey, Haley ; Leblanc, Amélie..
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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11

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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12

Contributors:

, In: Epigenetics in Human Disease,
Araki, Yasuto ; Beristain-Pozos, Juan Daniel ; Bhadra, Mridula... - p. xv-xxi , 2024
Link: https://doi.org/10.1016/..
 
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13

The missing link: ARID1B non-truncating variants causing Co..:

Bosch, Elisabeth ; Güse, Esther ; Kirchner, Philipp...
Human Genetics.  , 2024
Link: https://doi.org/10.1007/..
 
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14

Congenital hyperinsulinism and novel KDM6A duplications -re..:

Männistö, Jonna M E ; Hopkins, Jasmin J ; Hewat, Thomas I...
The Journal of Clinical Endocrinology & Metabolism.  , 2024
Link: https://doi.org/10.1210/..
 
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15

Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or S..:

Mortuza, Shamim ; Chin-Yee, Benjamin ; James, Tyler E....
Current Oncology.  31 (2024)  4 - p. 1762-1773 , 2024
Link: https://doi.org/10.3390/..
 
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