Publications

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Author Title [ Year(Desc)]
Filters: Keyword is Chromosome Aberrations  [Clear All Filters]
2014
Campbell, I. M. et al. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet 95, 345-59 (2014).
2015
Wang, M. et al. PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations. BMC Genomics 16, 214 (2015).
2016
Chen, D. - H. et al. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. Am J Hum Genet 98, 1146-1158 (2016).
Toriello, H. V., Colley, C. & Bamshad, M. Update on the Toriello-Carey syndrome. Am J Med Genet A 170, 2551-8 (2016).
2017
Liu, P. et al. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
2018
Loh, P. - R. et al. Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations. Nature 559, 350-355 (2018).
2020
Tsai, M. - H. et al. Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. Neuron 106, 237-245.e8 (2020).