Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome.
Lin JR
,
Miller D
,
Luong D
,
Nelson T
,
Crowley TB
,
Tran OT
,
Thiruvahindrapuram B
,
Hajianpour A
,
Campbell L
,
Busa T
,
Heine-Suñer D
,
García-Miñaúr S
,
Fernández L
,
Murphy KC
,
Murphy DG
,
Hawula W
,
Angkustsiri K
,
Shashi V
,
Schoch K
,
Bearden CE
,
Tomita-Mitchell A
,
Mitchell M
,
Carmel M
,
Weizman A
,
Michaelovsky E
,
Gothelf D
,
van den Bree M
,
Owen M
,
Vorstman J
,
Boot E
,
Vingerhoets C
,
Van Amelsvoort T
,
Swillen A
,
Breckpot J
,
R Vermeesch J
,
Devriendt K
,
Schneider M
,
Eliez S
,
Digilio MC
,
Unolt M
,
Putotto C
,
Versacci P
,
Marino B
,
Pontillo M
,
Armando M
,
Vicari S
,
Repetto GM
,
Kates W
,
Shprintzen RJ
,
Gur RE
,
Zackai E
,
Goldmuntz E
,
Wang T
,
Raj S
,
Emanuel BS
,
McDonald-McGinn DM
,
Scherer SW
,
Bassett AS
,
Zhang ZD
,
Morrow BE
Journal of medical genetics -
Oct 2026