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Journal of the National Cancer Institute|October 16, 2003
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemiaKenneth Offit, Orna Levran, Brian Mullaney, et al.Cancer Research|October 3, 2007
Genetic heterogeneity among Fanconi anemia heterozygotes and risk of cancerMarianne Berwick, Jaya M Satagopan, Leah Ben-Porat, et al.Human Mutation|December 14, 2011
Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complexMarianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, et al.Nature Genetics|January 4, 2007
Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancerSarah Reid, Detlev Schindler, Helmut Hanenberg, et al.American Journal of Human Genetics|May 25, 2010
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritabilityFeng Zhang, Pavel Seeman, Pengfei Liu, et al.BMC Medical Genetics|March 17, 2009
High-throughput mutational analysis of TOR1A in primary dystoniaJianfeng Xiao, Robert W Bastian, Joel S Perlmutter, et al.American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, et al.Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.Human Mutation|October 16, 2015
A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian DisordersIzabela Karbassi, Glenn A Maston, Angela Love, et al.American Journal of Human Genetics|July 29, 2014
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV allelesPhilip M Boone, Bo Yuan, Ian M Campbell, et al.Pageof 4