DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

by Elizabeth Nacheva, Katya Mokretar, Aynur Soenmez, Alan M Pittman, Colin Grace, Roberto Valli, Ayesha Ejaz, Selina Vattathil, Emanuela Maserati, Henry Houlden, Jan-Willem Taanman, Anthony H Schapira, Christos Proukakis
Published 2017-01-01

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

by Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Published 2017-11-01

Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related Diseases

by Enrico Bugiardini, Simon Pope, René G. Feichtinger, Olivia V. Poole, Alan M. Pittman, Cathy E. Woodward, Simon Heales, Rosaline Quinlivan, Henry Houlden, Johannes A. Mayr, Michael G. Hanna, Robert D.S. Pitceathly
Published 2019-07-01

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

by Alan M Pittman, Silvia Naranjo, Sanni E Jalava, Philip Twiss, Yussanne Ma, Bianca Olver, Amy Lloyd, Jayaram Vijayakrishnan, Mobshra Qureshi, Peter Broderick, Tom van Wezel, Hans Morreau, Sari Tuupanen, Lauri A Aaltonen, M Eva Alonso, Miguel Manzanares, Angela Gavilán, Tapio Visakorpi, José Luis Gómez-Skarmeta, Richard S Houlston
Published 2010-09-01

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

by Amanda J. Myers, Alan M. Pittman, Alice S. Zhao, Kristen Rohrer, Mona Kaleem, Lauren Marlowe, Andrew Lees, Doris Leung, Ian G. McKeith, Robert H. Perry, Chris M. Morris, John Q. Trojanowski, Christopher Clark, Jason Karlawish, Steve Arnold, Mark S. Forman, Vivianna Van Deerlin, Rohan de Silva, John Hardy
Published 2007-03-01

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.

by Ian P M Tomlinson, Luis G Carvajal-Carmona, Sara E Dobbins, Albert Tenesa, Angela M Jones, Kimberley Howarth, Claire Palles, Peter Broderick, Emma E M Jaeger, Susan Farrington, Annabelle Lewis, James G D Prendergast, Alan M Pittman, Evropi Theodoratou, Bianca Olver, Marion Walker, Steven Penegar, Ella Barclay, Nicola Whiffin, Lynn Martin, Stephane Ballereau, Amy Lloyd, Maggie Gorman, Steven Lubbe, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Bryan Howie, Jonathan Marchini, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Antoni Castells, Angel Carracedo, Sergi Castellvi-Bel, David Duggan, David Conti, Jean-Baptiste Cazier, Harry Campbell, Oliver Sieber, Lara Lipton, Peter Gibbs, Nicholas G Martin, Grant W Montgomery, Joanne Young, Paul N Baird, Steven Gallinger, Polly Newcomb, John Hopper, Mark A Jenkins, Lauri A Aaltonen, David J Kerr, Jeremy Cheadle, Paul Pharoah, Graham Casey, Richard S Houlston, Malcolm G Dunlop
Published 2011-06-01