Christina Fagerberg

International consensus and practical guidelines on the gynecologic and obstetric management of female patients with hereditary angioedema caused by C1 inhibitor deficiency

Teresa Caballero, Henriette Farkas, Laurence Bouillet et al. · Journal of Allergy and Clinical Immunology · 2011 · 253 citations · Full text

Medicine, Gynecology, Obstetrics +12

Phenotype and 244k array‐CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1‐qter

Maria Kirchhoff, Anne‐Marie Bisgaard, Radka Stoeva et al. · American Journal of Medical Genetics Part A · 2009 · 175 citations

Life Sciences, Genetics, Molecular Genetics +17

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

A. C. Lionel, Kristiina Tammimies, Andrea K. Vaags et al. · Human Molecular Genetics · 2013 · 175 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

F. Buket Basmanav, Ana‐Maria Oprişoreanu, Sandra M. Pasternack et al. · The American Journal of Human Genetics · 2014 · 158 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr et al. · The American Journal of Human Genetics · 2018 · 153 citations · Full text

Medicine, Genetics, Molecular Genetics +15