De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder - Lot Snijders Blok; Susan M. Hiatt; Kevin M. Bowling; Jeremy W. Prokop; Krysta L. Engel; J. Nicholas Cochran; E. Martina Bebin; Emilia K. Bijlsma; Claudia A. L. Ruivenkamp; Paulien Terhal; Marleen E. H. Simon; Rosemarie Smith; et al. (Human Genetics, 2018)

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data - Paul M. Thompson; Jason L. Stein; Sarah E. Medland; Derrek P. Hibar; Alejandro Arias Vasquez; Miguel E. Renteria; Roberto Toro; Neda Jahanshad; Gunter Schumann; Barbara Franke; Margaret J. Wright; Nicholas G. Martin; et al. (Brain Imaging and Behavior, 2014)

More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling - Aisha S. Sie; Wendy A. G. van Zelst-Stams; Liesbeth Spruijt; Arjen R. Mensenkamp; Marjolijn J. L. Ligtenberg; Han G. Brunner; Judith B. Prins; Nicoline Hoogerbrugge (Familial Cancer, 2013)

Female BRCA mutation carriers with a preference for prophylactic mastectomy are more likely to participate an educational-support group and to proceed with the preferred intervention within 2 years - Karin M. Landsbergen; Judith B. Prins; Yvonne J. L. Kamm; Han G. Brunner; Nicoline Hoogerbrugge (Familial Cancer, 2010)

Genetic testing for Lynch syndrome in the first year of colorectal cancer: a review of the psychological impact - Karin M. Landsbergen; Judith B. Prins; Han G. Brunner; Floris W. Kraaimaat; Nicoline Hoogerbrugge (Familial Cancer, 2009)

Poster abstracts - J. Ferrie; M. Shipley; F. Cappuccio; E. Brunner; M. Miller; M. Kumari; M. Marmot; A. Coenen; J. L. Castillo; F. Araya; G. Bustamante; L. Montecino; et al. (Sleep and Biological Rhythms, 2007)

Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome - Jeroen van Reeuwijk; Prabhjit K. Grewal; Mustafa A. M. Salih; Daniel Beltrán-Valero de Bernabé; Jenny M. McLaughlan; Caroline B. Michielse; Ralf Herrmann; Jane E. Hewitt; Alice Steinbrecher; Mohamed Z. Seidahmed; Mohamed M. Shaheed; Abdullah Abomelha; et al. (Human Genetics, 2007)

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11) - Mirjam W. J. Luijendijk; Erwin van Wijk; Anne M. L. C. Bischoff; Elmar Krieger; Patrick L. M. Huygen; Ronald J. E. Pennings; Han G. Brunner; Cor W. R. J. Cremers; Frans P. M. Cremers; Hannie Kremer (Human Genetics, 2004)

Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon - José A. J. M. van den Hurk; Dorien J. R. van de Pol; Bernd Wissinger; Marc A. van Driel; Lies H. Hoefsloot; Ilse J. de Wijs; L. Ingeborgh van den Born; John R. Heckenlively; Han G. Brunner; Eberhart Zrenner; Hans-Hilger Ropers; Frans P. M. Cremers (Human Genetics, 2003)

Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly - Jeffrey E. Ming; Michelle E. Kaupas; Erich Roessler; Han G. Brunner; Mahin Golabi; Mustafa Tekin; Robert F. Stratton; Eva Sujansky; Sherri J. Bale; Maximilian Muenke (Human Genetics, 2002)

Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22 - A. I. den Hollander; S. D. van der Velde-Visser; Alfred J. L. G. Pinckers; Carel B. Hoyng; Han G. Brunner; Frans P. M. Cremers (Human Genetics, 1999)