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A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia2026 Clinical Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases
Ozge Aksel Kilicarslan, Andrea Gangfuß, Andreas Hentschel, Heike Kölbel, David Muhmann, Ana Töpf, +10 more
1citations -
Metabolomics signatures of depression: the role of symptom profiles2023 Translational Psychiatry article Biochemistry, Genetics and Molecular Biology Metabolomics and Mass Spectrometry Studies Open access cited by 1 patent
Hilde de Kluiver, Rick Jansen, Brenda W.J.H. Penninx, Erik J. Giltay, Robert A. Schoevers, Yuri Milaneschi
46citations -
Hypogonadism in Women with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion2021 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, +16 more
29citations -
Pharmacotherapy for behavioural manifestations in frontotemporal dementia: An expert consensus from the European Reference Network for Rare Neurological Diseases ( ERN ‐ RND )2024 European Journal of Neurology article Medicine Dementia and Cognitive Impairment Research Open access
Casper Wittebrood, Marina Boban, Annachiara Cagnin, Sabina Capellari, François‐Laurent De Winter, Atbin Djamshidian, +16 more
9citations -
Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion
Karlijn Pellikaan, Yassine Ben Brahim, Anna G. W. Rosenberg, Kirsten Davidse, Christine Poitou, Muriel Coupaye, +14 more
28citations -
Bone Health in Adults With Prader–Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study2022 The Journal of Clinical Endocrinology & Metabolism article Medicine Bone health and osteoporosis research Open access
Denise H. van Abswoude, Karlijn Pellikaan, Anna G. W. Rosenberg, Kirsten Davidse, Muriel Coupaye, Charlotte Höybye, +13 more
20citations -
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review2023 The Journal of Clinical Endocrinology & Metabolism article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Karlijn Pellikaan, Naomi Nguyen, Anna G. W. Rosenberg, Muriel Coupaye, Anthony Peter Goldstone, Charlotte Höybye, +9 more
13citations -
Hyperprolactinemia in Adults with Prader-Willi Syndrome2021 Journal of Clinical Medicine article Biochemistry, Genetics and Molecular Biology Genetic Syndromes and Imprinting Open access
Anna Sjöström, Karlijn Pellikaan, Henrik Sjöström, Anthony Peter Goldstone, Graziano Grugni, Antonino Crinò, +2 more
6citations
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