E-LIB Suche - Ergebnisse für: Sanaa Choufani

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

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

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/..

11

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/..

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

An Epigenetically Distinct Subset of Children With Autism S..:

Jangjoo, Maryam ; Goodman, Sarah J. ; Choufani, Sanaa...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..