Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Por Laver, Thomas W., Caswell, Richard C., Moore, Karen A., Poschmann, Jeremie, Johnson, Matthew B., Owens, Martina M., Ellard, Sian, Paszkiewicz, Konrad H., Weedon, Michael N.
Publicado no Sci Rep (2016)

The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype

Por Hamilton, Alexander J, Bingham, Coralie, McDonald, Timothy J, Cook, Paul R, Caswell, Richard C, Weedon, Michael N, Oram, Richard A, Shields, Beverley M, Shepherd, Maggie, Inward, Carol D, Hamilton-Shield, Julian P, Kohlhase, Jürgen, Ellard, Sian, Hattersley, Andrew T
Publicado em 2014

Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

Por Hamilton, Mark J, Caswell, Richard C, Canham, Natalie, Cole, Trevor, Firth, Helen V, Foulds, Nicola, Heimdal, Ketil, Hobson, Emma, Houge, Gunnar, Joss, Shelagh, Kumar, Dhavendra, Lampe, Anne Katrin, Maystadt, Isabelle, McKay, Victoria, Metcalfe, Kay, Newbury-Ecob, Ruth, Park, Soo-Mi, Robert, Leema, Rustad, Cecilie F, Wakeling, Emma, Wilkie, Andrew O M, Study, The Deciphering Developmental Disorders, Twigg, Stephen R F, Suri, Mohnish
Publicado no J Med Genet (2018)