Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo Det al.(2022) DNA methylation episignature in Gabriele-de Vries syndrome Genet Med, 24(4), 905-914 DOI 10.1016/j.gim.2021.12.003, PubMed 35027293
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D(2022) ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences Brain(in press) DOI 10.1093/brain/awac034, PubMed 35104841
Chen CA, Crutcher E, Gill H, Nelson TN, Robak LA, Jongmans MCJ, Pfundt R, Prasad C, Berard RA, Fannemel M, Frengen E, Misceo D, Ramsey K, Yang Y, Schaaf CP, Wang X(2020) The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome Hum Mutat, 41(10), 1738-1744 DOI 10.1002/humu.24075, PubMed 32643838