Publications
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Author [ Title] Year Filters: Keyword is Genetic Heterogeneity [Clear All Filters]
Challenges and solutions for gene identification in the presence of familial locus heterogeneity. Eur J Hum Genet 23, 1207-15 (2015).
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med 21, 663-675 (2019).
Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. Am J Med Genet A 164A, 2240-9 (2014).
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet 101, 789-802 (2017).
Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet 52, 514-22 (2015).
Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med 9, 95 (2017).
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. Am J Hum Genet 102, 27-43 (2018).