Publications

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

Association among white matter lesions, rsEEG rhythms, amyloid tau markers, and cognitive status in mild cognitive impairment patients.

Del Percio C , Lizio R , Noce G , Carpi M , Lopez S , Carducci F , De Bartolo M , Afragola AP , Soricelli A , Salvatore M , Giubilei F , Güntekin B , Yener G , Massa F , Arnaldi D , Famà F , Pardini M , Ferri R , Lanuzza B , Stocchi F , Vacca L , Coletti C , Infarinato F , Marziali S , Marizzoni M , Taylor JP , Hanoğlu L , Yırıkoğulları H , Frisoni GB , Cuoco S , Cappiello A , Barone P , Bonanni L , Biundo R , Cauzzo S , Fiorenzato E , Antonini A , De Pandis MF , D'Antonio F , Bruno G , Babiloni C
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - Oct 2026

Amyloid, p-tau, neurofilament light, and α-synuclein cerebrospinal fluid biomarkers across Alzheimer's disease, dementia with Lewy bodies, and Parkinson's disease.

Rizzo M , Teunissen CE , Zetterberg H , Blennow K , Kollmorgen G , Krüger R , Fernandes SBG , Aarsland D , Borejko O , Hu M , Chokoshvili D , Vijverberg JEGB , Lemstra AW , Tijms BM , Petzold GC , Brockmann K , Gasser T , Frisoni GB , Hort J , Nedelska Z , Hopøy AC , Fladby T , Jessen F , Düzel E , Spottke A , Höglinger GU , Mutel S , Chevalier C , Krishnan R , Visser PJ , Vos SJB ,
Alzheimer's & dementia (Amsterdam, Netherlands) - 2026

The uneven landscape of cognitive domains in 22q11.2 deletion syndrome: A large consortium study.

Fiksinski AM , Wierenga R , McDonald-McGinn D , S Bassett A , Bearden CE , Morrow B , Emanuel B , Gur RE , Swillen A , Hooper SR , Chow EWC , van den Bree MBM , Vermeesch JR , Owen MJ , Eliez S , Gothelf D , Arango C , Kates WR , Simon T , Murphy KC , Murphy D , Repetto GM , Morey Canyelles J , Vicari S , Cubells J , Philip N , Campbell L , Díaz-Caneja CM , Schneider M , Shashi V , Armando M , Breetvelt EJ , de Veye H , , van Amelsvoort T , Vorstman J
Psychological medicine - Sep 2026

Multicenter retrospective study on perceived effectiveness, reported side effects, and cognitive outcomes of SSRIs in 22q11.2 deletion syndrome.

Latrèche C , Mancini V , Dvojakovska M , Kushan L , Mchangama F , Tairi F , Cohen T , Spapens J , Reijn L , Díaz-Caneja CM , Acheampong H , De Troch L , Vergaelen E , Vogels A , Swillen A , Vingerhoets C , Boot E , Arango C , Velders F , Fiksinski A , van Amelsvoort T , Gothelf D , Bearden CE , Chaumette B , Schneider M , Eliez S
European child & adolescent psychiatry - Aug 2026