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Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results Kerr, Shona M.; Klaric, Lucija; Muckian, Marisa D.; Johnston, Kiera; Drake, Camilla; Halachev, Mihail; Cowan, Emma; Snadden, Lesley; Dean, John; Zheng, Sean L.; Thami, Prisca K.; Ware, James S.; Tzoneva, Gannie; Shuldiner, Alan R.; Miedzybrodzka, Zosia; Wilson, James F. Share Save
Whole Genome Sequencing of Mutation-Negative Individuals With Cornelia de Lange Syndrome Ansari, Morad; Halachev, Mihail; Parry, David; Campos, Jose L.; D'Souza, Elston N.; Barnett, Christopher; Wilkie, Andrew O. M.; Barnicoat, Angela; Patel, Chirag V.; Sukarova-Angelovska, Elena; Girisha, Katta M.; Firth, Helen V.; Prescott, Katrina; Wilson, Louise C.; Mcentagart, Meriel; Davidson, Rosemarie; Lynch, Sally Ann; Joss, Shelagh; Holden, Simon T.; Lam, Wayne K.; Sisodiya, Sanjay M.; Green, Andrew J.; Poke, Gemma; Whiffin, Nicola; Fitzpatrick, David R.; Meynert, Alison Share Save
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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison Share Save
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data Aitken, Stuart; Firth, Helen V.; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J.; Lees, Melissa M.; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Nemeth, Andrea H.; Scott, Richard H.; Wright, Caroline F.; Marsh, Joseph A.; Hurles, Matthew E.; FitzPatrick, David R. Share Save
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort Kerr, Shona M.; Klaric, Lucija; Halachev, Mihail; Hayward, Caroline; Boutin, Thibaud S.; Meynert, Alison M.; Semple, Colin A.; Tuiskula, Annukka M.; Swan, Heikki; Santoyo-Lopez, Javier; Vitart, Veronique; Haley, Chris; Dean, John; Miedzybrodzka, Zosia; Aitman, Timothy J.; Wilson, James F. Share Save
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP Thormann, Anja; Halachev, Mihail; McLaren, William; Moore, David J.; Svinti, Victoria; Campbell, Archie; Kerr, Shona M.; Tischkowitz, Marc; Hunt, Sarah E.; Dunlop, Malcolm G.; Hurles, Matthew E.; Wright, Caroline F.; Firth, Helen V.; Cunningham, Fiona; FitzPatrick, David R. Share Save
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy Handley, Mark T.; Reddy, Kaalak; Wills, Jimi; Rosser, Elisabeth; Kamath, Archith; Halachev, Mihail; Falkous, Gavin; Williams, Denise; Cox, Phillip; Meynert, Alison; Raymond, Eleanor S.; Morrison, Harris; Brown, Stephen; Allan, Emma; Aligianis, Irene; Jackson, Andrew P.; Ramsahoye, Bernard H.; von Kriegsheim, Alex; Taylor, Robert W.; Finch, Andrew J.; FitzPatrick, David R. Share Save
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma Rainger, Joe; Williamson, Kathleen A.; Soares, Dinesh C.; Truch, Julia; Kurian, Dominic; Gillessen-Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C.; van Heyningen, Veronica; Davey, Megan G.; FitzPatrick, David R. Share Save
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism Harley, Margaret E.; Murina, Olga; Leitch, Andrea; Higgs, Martin R.; Bicknell, Louise S.; Yigit, Goekhan; Blackford, Andrew N.; Zlatanou, Anastasia; Mackenzie, Karen J.; Reddy, Kaalak; Halachev, Mihail; McGlasson, Sarah; Reijns, Martin A. M.; Fluteau, Adeline; Martin, Carol-Anne; Sabbioneda, Simone; Elcioglu, Nursel H.; Altmueller, Janine; Thiele, Holger; Greenhalgh, Lynn; Chessa, Luciana; Maghnie, Mohamad; Salim, Mahmoud; Bober, Michael B.; Nuernberg, Peter; Jackson, Stephen P.; Hurles, Matthew E.; Wollnik, Bernd; Stewart, Grant S.; Jackson, Andrew P. Share Save
HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus Diggle, Christine P.; Moore, Daniel J.; Mali, Girish; zur Lage, Petra; Ait-Lounis, Aouatef; Schmidts, Miriam; Shoemark, Amelia; Munoz, Amaya Garcia; Halachev, Mihail R.; Gautier, Philippe; Yeyati, Patricia L.; Bonthron, David T.; Carr, Ian M.; Hayward, Bruce; Markham, Alexander F.; Hope, Jilly E.; von Kriegsheim, Alex; Mitchison, Hannah M.; Jackson, Ian J.; Durand, Benedicte; Reith, Walter; Sheridan, Eamonn; Jarman, Andrew P.; Mill, Pleasantine Share Save
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