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Author/Creator Awamleh, Zain

1. ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome. Issue 9 (28th November 2022)

Authors:
Awamleh, Zain; Choufani, Sanaa; Cytrynbaum, Cheryl; Alkuraya, Fowzan S; Scherer, Stephen; Fernandes, Sofia; Rosas, Catarina; Louro, Pedro; Dias, Patricia; Neves, Mariana Tomásio; Sousa, Sérgio B; Weksberg, Rosanna
Journal:
Human molecular genetics
Issue:
Volume 32:Issue 9(2023)
Page Start:
1429
Record Type:
Journal Article
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7. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Issue 18 (5th May 2022)

Authors:
Riedhammer, Korbinian M; Burgemeister, Anna L; Cantagrel, Vincent; Amiel, Jeanne; Siquier-Pernet, Karine; Boddaert, Nathalie; Hertecant, Jozef; Kannouche, Patricia L; Pouvelle, Caroline; Htun, Stephanie; Slavotinek, Anne M; Beetz, Christian; Diego-Alvarez, Dan; Kampe, Kapil; Fleischer, Nicole; Aw...
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 18(2022)
Page Start:
3083
Record Type:
Journal Article
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8. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder. Issue 5 (18th January 2022)

Authors:
Marwaha, Ashish; Costain, Gregory; Cytrynbaum, Cheryl; Mendoza‐Londono, Roberto; Chad, Lauren; Awamleh, Zain; Chater‐Diehl, Eric; Choufani, Sanaa; Weksberg, Rosanna
Journal:
American journal of medical genetics
Issue:
Volume 188:Issue 5(2022)
Page Start:
1368
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗