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Sanaa Choufani
136
results:
Search for persons
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Online (136)
Mediatypes
Articles (Online) (68)
Bookchapter (Online) (1)
OpenAccess-fulltext (67)
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1
P637: A newly derived DNA methylation signature for Koolen ..:
Awamleh, Zain
;
Choufani, Sanaa
;
Rots, Dmitrijs
...
Genetics in Medicine Open. 2 (2024) - p. 101543 , 2024
Link:
https://doi.org/10.1016/..
?
2
A new blood DNA methylation signature for Koolen-de Vries s..:
Awamleh, Zain
;
Choufani, Sanaa
;
Wu, Wendy
...
European Journal of Human Genetics. , 2024
Link:
https://doi.org/10.1038/..
?
3
A homozygous stop codon in HORMAD2 in a patient with recurr..:
Liang, Manqi
;
Suresh, Beena
;
Bareke, Eric
...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1002/..
?
4
P369: Acute lymphocytic leukemia in a child with Beckwith W..:
Martin, Nicole
;
Choufani, Sanaa
;
Weksberg, Rosanna
Genetics in Medicine Open. 2 (2024) - p. 101263 , 2024
Link:
https://doi.org/10.1016/..
?
5
P837: DNA methylation profiling in Kabuki syndrome: Steps t..:
Choufani, Sanaa
;
Weksberg, Rosanna
Genetics in Medicine Open. 2 (2024) - p. 101748 , 2024
Link:
https://doi.org/10.1016/..
?
6
Missense variant in SRCAP with distinct DNA methylation sig..:
White‐Brown, Alexandre
;
Choufani, Sanaa
;
Weksberg, Rosanna
..
American Journal of Medical Genetics Part A. 191 (2023) 10 - p. 2640-2646 , 2023
Link:
https://doi.org/10.1002/..
?
7
Rare de novo gain-of-function missense variants in DOT1L ar..:
Nil, Zelha
;
Deshwar, Ashish R.
;
Huang, Yan
...
The American Journal of Human Genetics. 110 (2023) 11 - p. 1919-1937 , 2023
Link:
https://doi.org/10.1016/..
?
8
DNA methylation signatures for chromatinopathies: current c..:
Awamleh, Zain
;
Goodman, Sarah
;
Choufani, Sanaa
.
Human Genetics. 143 (2023) 4 - p. 551-557 , 2023
Link:
https://doi.org/10.1007/..
?
9
DNA methylation signature associated with Bohring-Opitz syn..:
Awamleh, Zain
;
Chater-Diehl, Eric
;
Choufani, Sanaa
...
European Journal of Human Genetics. 30 (2022) 6 - p. 695-702 , 2022
Link:
https://doi.org/10.1038/..
?
10
An HNRNPK-specific DNA methylation signature makes sense of..:
Choufani, Sanaa
;
McNiven, Vanda
;
Cytrynbaum, Cheryl
...
The American Journal of Human Genetics. 109 (2022) 10 - p. 1867-1884 , 2022
Link:
https://doi.org/10.1016/..
?
11
ANKRD11 pathogenic variants and 16q24.3 microdeletions shar..:
Awamleh, Zain
;
Choufani, Sanaa
;
Cytrynbaum, Cheryl
...
Human Molecular Genetics. 32 (2022) 9 - p. 1429-1438 , 2022
Link:
https://doi.org/10.1093/..
?
12
The utility of DNA methylation signatures in directing geno..:
Marwaha, Ashish
;
Costain, Gregory
;
Cytrynbaum, Cheryl
...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1368-1375 , 2022
Link:
https://doi.org/10.1002/..
?
13
Generation of DNA Methylation Signatures and Classification..:
Awamleh, Zain
;
Goodman, Sarah
;
Kallurkar, Prajkta
...
Current Protocols. 2 (2022) 11 - p. , 2022
Link:
https://doi.org/10.1002/..
?
14
Truncating SRCAP variants outside the Floating-Harbor syndr..:
Rots, Dmitrijs
;
Chater-Diehl, Eric
;
Dingemans, Alexander J.M.
...
The American Journal of Human Genetics. 108 (2021) 6 - p. 1053-1068 , 2021
Link:
https://doi.org/10.1016/..
?
15
Paternal Uniparental Disomy of the Entire Chromosome 20 in ..:
Choufani, Sanaa
;
Ko, Jung Min
;
Lou, Youliang
...
Genes. 12 (2021) 2 - p. 172 , 2021
Link:
https://doi.org/10.3390/..
1-15