De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Nature Genetics2010Vol. 42(6), pp. 483–485
Citations Over TimeTop 1% of 2010 papers
Alexander Hoischen, Bregje W.M. van Bon, Christian Gilissen, Peer Arts, Bart van Lier, Marloes Steehouwer, Petra de Vries, Rick de Reuver, Nienke Wieskamp, Geert Mortier, Koenraad Devriendt, Marta Amorim, Nicole Revençu, Alexa Kidd, Mafalda Barbosa, Anne Turner, Janine Smith, Christina Oley, Alex Henderson, Ian Hayes, Elizabeth M. Thompson, Han G. Brunner, Bert B.A. de Vries, Joris A. Veltman
Related Papers
- → Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study(2018)83 cited
- → CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States(2012)83 cited
- → Whole exome sequencing improves mutation detection in Hailey–Hailey disease(2021)3 cited
- → Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing(2020)
- → [Novel compound heterozygous SCN9A variations causing congenital insensitivity to pain in a patient].(2022)