Blatter R, Tschupp B, Aretz S, Bernstein I, Colas C, Evans DG, Genuardi M, Hes FJ, Hüneburg R, Järvinen H, Lalloo F, Moeslein G, Renkonen-Sinisalo L, Resta N, Spier I, Varvara D, Vasen H, Latchford AR, Heinimann K. (2020) Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers. Genet Med. 2020 May 13.

Filges I, Tercanli S, Hall JG (2019) Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management. Am J Med Genet C Semin Med Genet. 181, 327–336.

Meier N, Bruder E, Lapaire O, Hoesli I, Kang A, Hench J, Hoeller S, De Geyter J, Miny P, Heinimann K, Chaoui R, Tercanli S, Filges I (2019) Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries. Eur J Hum Genet. 27, 730–737.

Stahl EA, Breen G, Forstner JF, Cichon S, Ophoff RA, Scott LJ, Andreassen OA, Kelsoe J, Sklar P. Bipolar Disorder Working Group of the Psychiatric Genomics Consortium (2019) Genome-wide association study indentifies 30 loci associated with bipolar disorder. Nat Genet 51, 793–803.

Maaser A, Forstner AJ, Strohmaier J, Cichon S, Marcheco-Teruel B, Mors O, Rietschel M, Nöthen MM (2018) Exome Sequencing in large, multiplex bipolar disorder families from Cuba. PLoS One 13, e0205895.