Pernille Axel Gregersen (Pernille A Gregersen, Pernille Axél Gregersen)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 6

Top Topics

Intellectual Disability

Top Venues

Clinical genetics

Molecular genetics & genomic medicine

BMJ open ophthalmology

Clinical case reports

This page only lists publications with an associated author ORCID identifier.

Publications

Pernille Axel Gregersen, Anna Hammarsjö, Lise Graversen, Nis Brix, Hillevi Lindelöf, Uffe Birk Jensen, Stense Farholt, Sune Rubak, Jesper Bjerre, Serena G Piticchio, Thorkild Terkelsen, Gen Nishimura, Michel Bach Hellfritzsch, Giedre Grigelioniene
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect. Clinical genetics (2024)
Saga Elise Eiset, Mikkel Funding, Hilary Racher, Steffen Heegaard, Brenda Gallie, Steen Fiil Urbak, Pernille Axel Gregersen
Metachronous, non-pineal, trilateral retinoblastoma in a patient with a seemingly reduced-expressivity RB1 germline deletion. Clinical case reports 10 (3) (2022)
Sofus Sølyst, Riina Oksjoki, Stense Farholt, Dorte Guldbrand Nielsen, Alex H Christensen, Christina R Fagerberg, Lotte Risom, Pernille Axel Gregersen, Maria Bejerholm Christensen, Torsten Bloch Rasmussen, Birgitte Rode Diness
Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures. Clinical genetics 102 (3) (2022)
Pernille Axel Gregersen, Mikkel Funding, Jan Alsner, Maja H Olsen, Jens Overgaard, Steen F Urbak, Sandra E Staffieri, Stina Lou
Living with heritable retinoblastoma and the perceived role of regular follow-up at a retinoblastoma survivorship clinic: 'That is exactly what I have been missing'. BMJ open ophthalmology 6 (1) (2021)
Pernille Axel Gregersen, Victoria McKay, Maie Walsh, Erica Brown, George McGillivray, Ravi Savarirayan
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders. Molecular genetics & genomic medicine 8 (6) (2020)
Anna Byrjalsen, Thomas V O Hansen, Ulrik Kristoffer Stoltze, Mana M Mehrjouy, Nanna Moeller Barnkob, Lisa Lyngsie Hjalgrim, René Mathiasen, Charlotte K Lautrup, Pernille Axel Gregersen, Henrik Hasle, Peder S Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian O Laspiur, Maria Rossing, Rasmus Lykke Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne-Marie Gerdes, Kjeld Schmiegelow, Karin A W Wadt
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. PLoS genetics 16 (12) (2020)