Digesting GWAS

Por Turnpenny, Peter D.
Publicado no Cell Mol Gastroenterol Hepatol (2016)

Alagille syndrome: pathogenesis, diagnosis and management

Por Turnpenny, Peter D, Ellard, Sian
Publicado em 2012

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

Por Sparrow, Duncan B, Sillence, David, Wouters, Merridee A, Turnpenny, Peter D, Dunwoodie, Sally L
Publicado em 2010

Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom

Por Carrieri, Daniele, Lucassen, Anneke M., Clarke, Angus J., Dheensa, Sandi, Doheny, Shane, Turnpenny, Peter D., Kelly, Susan E.
Publicado no Genet Med (2016)

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom

Por Carrieri, Daniele, Dheensa, Sandi, Doheny, Shane, Clarke, Angus J, Turnpenny, Peter D, Lucassen, Anneke M, Kelly, Susan E
Publicado no Eur J Hum Genet (2017)

Mutated MESP2 Causes Spondylocostal Dysostosis in Humans

Por Whittock, Neil V., Sparrow, Duncan B., Wouters, Merridee A., Sillence, David, Ellard, Sian, Dunwoodie, Sally L., Turnpenny, Peter D.
Publicado em 2004

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in...

Por Lango Allen, Hana, Caswell, Richard, Xie, Weijia, Xu, Xiao, Wragg, Christopher, Turnpenny, Peter D, Turner, Claire L S, Weedon, Michael N, Ellard, Sian
Publicado em 2014

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Por Hunt, David, Leventer, Richard J, Simons, Cas, Taft, Ryan, Swoboda, Kathryn J, Gawne-Cain, Mary, Magee, Alex C, Turnpenny, Peter D, Baralle, Diana
Publicado no J Med Genet (2014)

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Por Cornier, Alberto S., Staehling-Hampton, Karen, Delventhal, Kym M., Saga, Yumiko, Caubet, Jean-Francois, Sasaki, Nobuo, Ellard, Sian, Young, Elizabeth, Ramirez, Norman, Carlo, Simon E., Torres, Jose, Emans, John B., Turnpenny, Peter D., Pourquié, Olivier
Publicado em 2008

Neonatal Lethal Costello Syndrome and Unusual Dinucleotide Deletion/Insertion Mutations in HRAS Predicting p.Gly12Val

Por Burkitt-Wright, Emma MM, Bradley, Lisa, Shorto, Jennifer, McConnell, Vivienne PM, Gannon, Caroline, Firth, Helen V, Park, Soo-Mi, D'Amore, Angela, Munyard, Paul F, Turnpenny, Peter D, Charlton, Amanda, Wilson, Meredith, Kerr, Bronwyn
Publicado no Am J Med Genet A (2012)

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Por Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Publicado em 2013

Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

Por Turner, Claire Louise Susan, Mackay, Deborah M, Callaway, Jonathan L A, Docherty, Louise E, Poole, Rebecca L, Bullman, Hilary, Lever, Margaret, Castle, Bruce M, Kivuva, Emma C, Turnpenny, Peter D, Mehta, Sarju G, Mansour, Sahar, Wakeling, Emma L, Mathew, Verghese, Madden, Jackie, Davies, Justin H, Temple, I Karen
Publicado em 2010

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Por Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Publicado em 2012