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Sadegheh Haghshenas
Sadegheh Haghshenas
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Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
Human Genetics and Genomics Advances 3 (1), 2022
1242022
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ...
Human mutation 43 (11), 1609-1628, 2022
452022
Diagnostic utility of genome-wide DNA methylation analysis in mendelian neurodevelopmental disorders
S Haghshenas, P Bhai, E Aref-Eshghi, B Sadikovic
International journal of molecular sciences 21 (23), 9303, 2020
352020
Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome
MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ...
Genetics in Medicine 23 (11), 2122-2137, 2021
272021
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ...
Genetics in medicine 24 (6), 1261-1273, 2022
222022
Identification of a DNA methylation episignature in the 22q11. 2 deletion syndrome
K Rooney, MA Levy, S Haghshenas, J Kerkhof, D Rogaia, MG Tedesco, ...
International Journal of Molecular Sciences 22 (16), 8611, 2021
222021
Detection of a DNA methylation signature for the intellectual developmental disorder, X-linked, syndromic, armfield type
S Haghshenas, MA Levy, J Kerkhof, E Aref-Eshghi, H McConkey, T Balci, ...
International journal of molecular sciences 22 (3), 1111, 2021
172021
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
K Rooney, L van der Laan, S Trajkova, S Haghshenas, R Relator, ...
Genetics in Medicine 25 (8), 100871, 2023
162023
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
E Bogaert, A Garde, T Gautier, K Rooney, Y Duffourd, P LeBlanc, ...
The American Journal of Human Genetics 110 (5), 790-808, 2023
132023
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome
EA Verberne, L van der Laan, S Haghshenas, K Rooney, MA Levy, ...
International journal of molecular sciences 23 (14), 8001, 2022
132022
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome
A Foroutan, S Haghshenas, P Bhai, MA Levy, J Kerkhof, H McConkey, ...
International journal of molecular sciences 23 (3), 1815, 2022
122022
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
M del Rocío Pérez Baca, EZ Jacobs, L Vantomme, P Leblanc, E Bogaert, ...
medRxiv, 2023.05. 22.23289895, 2023
82023
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. HGG Adv. 3, 100075
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
72021
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
MRP Baca, EZ Jacobs, L Vantomme, P Leblanc, E Bogaert, A Dheedene, ...
The American Journal of Human Genetics 111 (3), 509-528, 2024
52024
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy
S Haghshenas, A Foroutan, P Bhai, MA Levy, R Relator, J Kerkhof, ...
European Journal of Human Genetics 31 (8), 879-886, 2023
42023
Constructing the Spectrum of Packings and Coverings for the Complete Graph with Stars with up to Five Edges
D Dyer, S Haghshenas, N Shalaby
Graphs and Combinatorics 32, 943-961, 2016
42016
Identification of the DNA methylation signature of Mowat-Wilson syndrome
SG Caraffi, L van der Laan, K Rooney, S Trajkova, R Zuntini, R Relator, ...
European Journal of Human Genetics, 1-11, 2024
32024
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
Q Sabbagh, S Haghshenas, J Piard, C Trouvé, J Amiel, T Attié-Bitach, ...
Genetics in Medicine 26 (1), 101007, 2024
32024
Extending regular edge‐colorings of complete hypergraphs
A Bahmanian, S Haghshenas
Journal of Graph Theory 94 (1), 59-74, 2020
32020
Partitioning the edge set of a hypergraph into almost regular cycles
A Bahmanian, S Haghshenas
Journal of Combinatorial Designs 26 (10), 465-479, 2018
32018
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Artikelen 1–20