Publications

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Author Title [ Year(Desc)]
Filters: Author is Weisburd, Ben  [Clear All Filters]
2017
Cummings, B. B. et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
2020
Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434-443 (2020).
Scriba, C. K. et al. A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families. Brain 143, 2904-2910 (2020).
Bryen, S. J. et al. Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Hum Mutat 41, 403-411 (2020).