Göran Annerén

Fetal Mesenchymal Stem-Cell Engraftment in Bone after In Utero Transplantation in a Patient with Severe Osteogenesis Imperfecta

Katarina Le Blanc, Cecilia Götherström, Olle Ringdén et al. · Transplantation · 2005 · 451 citations

Medicine, Cell Biology, Immunology +15

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Identification and Analysis of Mutations in the Wilson Disease Gene (ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional Analyses

Anjali B. Shah, Hong Tao Zhang, Barbara M. Ross et al. · The American Journal of Human Genetics · 1997 · 353 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Thyroid dysfunction in Down's syndrome: relation to age and thyroid autoimmunity

B. Karlsson, J Gustafsson, Gerth Hedov et al. · Archives of Disease in Childhood · 1998 · 281 citations · Full text

Medicine, Endocrinology, Pediatrics +14