Publications 2026

Valtorta B, Polackova Z, Maroofian R, Herold A, Karagoz I, Zaki MS, Bronisova D, Liao M, Zamani M, Scardamaglia A, Collomb N, Lopez-Jimenez L, Barrero MJ, Schröter J, Syrbe S, Vallanger MH, Houge SD, Alanay Y, Akgun-Dogan O, Vogt J, Muriello M, Hendriks YMC, Afenjar A, Damseh N, Kaiyrzhanov R et al. (2026)
Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders
Genome Med (in press)
DOI 10.1186/s13073-026-01667-1, PubMed 42116163

Publications 2025

Houge GD, Houge SD, Hsieh TC, Verbinnen I, Janssens V (2025)
Houge-Janssens syndrome
Eur J Hum Genet, 33 (10), 1228-1239
DOI 10.1038/s41431-025-01901-1, PubMed 40555839

Publications 2024

Chen FH, Hartman AL, Letinturier MCV, Antoniadou V, Baynam G, Bloom L, Crimi M, Della Rocca MG, Didato G, Houge SD, Jonker A, Kawome M, Mueller F, O'Brien J, Puri RD, Ryan N, Thong MK, Tumienė B, Parisi MA (2024)
Telehealth for rare disease care, research, and education across the globe: A review of the literature by the IRDiRC telehealth task force
Eur J Med Genet, 72, 104977
DOI 10.1016/j.ejmg.2024.104977, PubMed 39374775

Kerkhof J, Rastin C, Levy MA, Relator R, McConkey H, Demain L, Dominguez-Garrido E, Kaat LD, Houge SD, DuPont BR, Fee T, Fletcher RS, Gokhale D, Haukanes BI, Henneman P, Hilton S, Hilton BA, Jenkinson S, Lee JA, Louie RJ, Motazacker MM, Rzasa J, Stevenson RE, Plomp A, van der Laan L et al. (2024)
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases
Genet Med, 26 (5), 101075
DOI 10.1016/j.gim.2024.101075, PubMed 38251460

Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA et al. (2024)
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
J Med Genet, 61 (6), 503-519
DOI 10.1136/jmg-2023-109438, PubMed 38471765

Publications 2023

Bakke KA, Helverschou SB, Skrivarhaug T, Houge SD, Stray-Pedersen A (2023)
Personalised medicine for developmental disorders
Tidsskr Nor Laegeforen, 143 (13)
DOI 10.4045/tidsskr.23.0351, PubMed 37753748

Publications 2021

Tobias ES, Avram E, Calapod P, Cordier C, den Dunnen JT, Ding C, Dolzan V, Houge SD, Lynch SA, O'Byrne J, Patsalis P, Prokopenko I, Soares CA, Tobias AP, Newman WG (2021)
The Role of the European Society of Human Genetics in Delivering Genomic Education
Front Genet, 12, 693952
DOI 10.3389/fgene.2021.693952, PubMed 34539735