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Neurogenetics|September 19, 2014
Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approachMagdalena Zimoń, Esra Battaloğlu, Yesim Parman, et al.Nature Communications|October 13, 2022
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complexLauren G Mascibroda, Mohammad Shboul, Nathan D Elrod, et al.Human Genetics|November 2, 2013
C5orf42 is the major gene responsible for OFD syndrome type VIEstelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, et al.Development (Cambridge, England)|October 9, 2020
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6Jamie Trott, Yunus Alpagu, Ee Kim Tan, et al.Nature Genetics|October 16, 2012
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratodermaElizabeth Pohler, Ons Mamai, Jennifer Hirst, et al.Med (New York, N.Y.)|November 6, 2024
Arab founder variants: Contributions to clinical genomics and precision medicineLama AlAbdi, Sateesh Maddirevula, Bayan Aljamal, et al.Nature Genetics|August 4, 2009
Mutations in PYCR1 cause cutis laxa with progeroid featuresBruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, et al.American Journal of Human Genetics|December 14, 2011
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zoneLijia Huang, Katarzyna Szymanska, Victor L Jensen, et al.Pageof 5