Publications E.A. Verberne
- Positions
- PhD Candidate, MD-PhD
- Main activities
- Research
- Specialisation
- Clinical Genetics
- Focus of research
Congenital anomalies in the Dutch Caribbean
Amsterdam UMC Research Institutes
AMC departments
All publications
2020
- Verberne Eline A., Dalen Meurs Lotje, Wolf Nicole I., van Haelst Mieke M. 4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype American journal of medical genetics. Part A 2020;182 (7):1776-1779 [PubMed]
- Verberne Eline A., Faries Sonja, Mannens Marcel M. A. M., Postma Alex V., van Haelst Mieke M. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency American journal of medical genetics. Part A 2020;182 (8):1952-1956 [PubMed]
- Verberne Eline A., Goh Shuxiang, England Jade, van Ginkel Manon, Rafael-Croes Louise, Maas Saskia, Polstra Abeltje, Zarate Yuri A., Bosanko Katherine A., Pechter Kieran B., Bedoukian Emma, Izumi Kosuke, Chaudhry Ayeshah, Robin Nathaniel H., Boothe Megan, Lippa Natalie C., Aggarwal Vimla, de Vivo Darryl C., Lehman Anna, Study Causes, Stockler Sylvia, Bruel Ange-Line, Isidor Bertrand, Lemons Jennifer, Rodriguez-Buritica David F., Richmond Christopher M., Stark Zornitza, Agrawal Pankaj B., Kooy R. Frank, Meuwissen Marije E. C., Koolen David A., Pfundt Rolf, Lieden Agne, Anderlid Britt-Marie, Glatz Dagmar, Mannens Marcel M. A. M., Bakshi Madhura, Mallette Frédérick A., van Haelst Mieke M., Campeau Philippe M. JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome Genetics in medicine 2020 [PubMed]
- Verberne Eline A., Manshande Meindert E., Wagner-Buitenweg Nadjah F., Elhage Wallid, Holtsema Hilda, van Haelst Mieke M. Limb anomalies, microcephaly, dysmorphic facial features and fibroma of the tongue after failed abortion with methotrexate and misoprostol Clinical dysmorphology 2020;29 (4):182-185 [PubMed]
- Stunnenberg Bas, Ponson-Wever Maria, Verberne Eline, Peters Ivo, Gerrits Monique, Haaxma Charlotte, van Haelst Mieke Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain Journal of Pediatric Neurology 2020
2019
- Verberne Eline A., de Haan Emma, van Tintelen J. Peter, Lindhout Dick, van Haelst Mieke M. Fetal methotrexate syndrome: A systematic review of case reports Reproductive toxicology (Elmsford, N.Y.) 2019;87:125-139 [PubMed]