2026

• Watts, Laura M.; Chang, Michelle S.M.; Lewis-Orr, Elizabeth; Walton, Isaac S.; Leinhos, Lisa; Tooze, Rebecca S.; Pei, Yang; Calpena, Eduardo; Vedovato-dos-Santos, J. Heather; Steel, Dora. (2026) Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis. Genetics in Medicine
  Vitenskapelig artikkel

2023

• Hirschenberger, Maximilian; Lepelley, Alice; Rupp, Ulrich; Klute, Susanne; Hunszinger, Victoria; Koepke, Lennart; Merold, Veronika; Didry-Barca, Blaise; Wondany, Fanny; Bergner, Tim. (2023) ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling. Nature Communications
  Vitenskapelig artikkel

2022

• Gerber, Céline B.; Fliedner, Anna; Bartsch, Oliver; Berland, Siren; Dewenter, Malin; Haug, Marte Gjøl; Hayes, Ian; Marin-Reina, Purificacion; Mark, Paul R.; Martinez-Castellano, Francisco. (2022) Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6. Clinical Genetics
  Vitenskapelig artikkel

2021

• Sørensen, Ida W.; Glad, Ragnhild; Houge, Gunnar; Blomhoff, Anne; Haug, Marte G.; Steen, Vidar M.. (2021) Mer treffsikker fosterdiagnostikk. Tidsskrift for Den norske legeforening (Tidsskriftet)
  Vitenskapelig artikkel
• Lippe, Charlotte von der; Tveten, Kristian; Prescott, Trine; Holla, Øystein Lunde; Busk, Øyvind Løvold; Burke, Katherine B.; Sansbury, Francis H.; Baptista, Júlia; Fry, Andrew E.; Lim, Derek. (2021) Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics. Part A
  Vitenskapelig artikkel

2020

• Ferreira, Carlos R; Zein, Wadih M; Huryn, Laryssa; Merker, Andrea; Berger, Seth; Wilson, William G; Tiller, George E; Wolfe, Lynne A; Merideth, Melissa; Carvalho, Daniel R.. (2020) Defining the clinical phenotype of Saul–Wilson syndrome. Genetics in Medicine
  Vitenskapelig artikkel

2018

• Ferreira, Carlos R; Xia, Zhi-Jie; Clement, Aurelie; Parry, David A; Davids, Mariska; Taylan, Fulya; Sharma, Prashant; Turgeon, Coleman T.; Blanco-Sanchez, Bernardo; Ng, Bobby G. (2018) A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American Journal of Human Genetics
  Vitenskapelig artikkel
• Hemati, Parisa; Revah-Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica. (2018) Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. American Journal of Medical Genetics. Part A
  Vitenskapelig artikkel

2017

• Clemens, Ilka; Bergseng, Håkon; Haugen, Stein Erik; Haug, Marte Gjøl; Kahrs, Birgitte Heiberg; Røset, Maria Aurora Hernandez; Prossliner, Monika; Eggebø, Torbjørn Moe. (2017) The prenatal diagnosis of volvulus in a fetus with congenital diarrhea (CD) probably associated with GUCY2C gene variant. Ultrasound in Obstetrics and Gynecology
  Konferanseabstract

2016

• Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per. (2016) The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica
  Vitenskapelig artikkel