Publications

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Author Title [ Year(Asc)]
Filters: Author is Witmer, P Dane and Keyword is Humans  [Clear All Filters]
2020
Ramzan, M. et al. Spectrum of genetic variants in moderate to severe sporadic hearing loss in Pakistan. Sci Rep 10, 11902 (2020).
2019
Posey, J. E. et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med 21, 798-812 (2019).
2016
Li, R., Sobreira, N., P Witmer, D., Pratz, K. W. & Braunstein, E. M. Two novel germline DDX41 mutations in a family with inherited myelodysplasia/acute myeloid leukemia. Haematologica 101, e228-31 (2016).
2015
Chong, J. X. et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. Am J Hum Genet 97, 199-215 (2015).
Gripp, K. W. et al. Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome. Am J Med Genet A 167A, 271-81 (2015).