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The contribution of X-linked coding variation to severe developmental disorders Martin, Hilary C.; Gardner, Eugene J.; Samocha, Kaitlin E.; Kaplanis, Joanna; Akawi, Nadia; Sifrim, Alejandro; Eberhardt, Ruth Y.; Tavares, Ana Lisa Taylor; Neville, Matthew D. C.; Niemi, Mari E. K.; Gallone, Giuseppe; McRae, Jeremy; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V.; Hurles, Matthew E. 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
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data Wright, C. F.; Prigmore, E.; Rajan, D.; Handsaker, J.; McRae, J.; Kaplanis, J.; Fitzgerald, T. W.; FitzPatrick, D. R.; Firth, H., V; Hurles, M. E. Share Save
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations Kaplanis, Joanna; Akawi, Nadia; Gallone, Giuseppe; McRae, Jeremy F.; Prigmore, Elena; Wright, Caroline F.; Fitzpatrick, David R.; Firth, Helen V.; Barrett, Jeffrey C.; Hurles, Matthew E. Share Save
Pathogenicity and selective constraint on variation near splice sites Lord, Jenny; Gallone, Giuseppe; Short, Patrick J.; Mcrae, Jeremy F.; Ironfield, Holly; Wynn, Elizabeth H.; Gerety, Sebastian S.; He, Liu; Kerr, Bronwyn; Johnson, Diana S.; McCann, Emma; Kinning, Esther; Flinter, Frances; Temple, I. Karen; Clayton-Smith, Jill; McEntagart, Meriel; Lynch, Sally Ann; Joss, Shelagh; Douzgou, Sofia; Dabir, Tabib; Clowes, Virginia; McConnell, Vivienne P. M.; Lam, Wayne; Wright, Caroline F.; FitzPatrick, David R.; Firth, Helen V.; Barrett, Jeffrey C.; Hurles, Matthew E. Share Save
Predicting the clinical impact of human mutation with deep neural networks (vol 50, pg 1161, 2018) Sundaram, Laksshman; Gao, Hong; Padigepati, Samskruthi Reddy; McRae, Jeremy F.; Li, Yanjun; Kosmicki, Jack A.; Fritzilas, Nondas; Hakenberg, Jorg; Dutta, Anindita; Shon, John; Xu, Jinbo; Batzoglou, Serafim; Li, Xiaolin; Farh, Kyle Kai-How Share Save
Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders Wright, Caroline F.; McRae, Jeremy F.; Clayton, Stephen; Gallone, Giuseppe; Aitken, Stuart; FitzGerald, Tomas W.; Jones, Philip; Prigmore, Elena; Rajan, Diana; Lord, Jenny; Sifrim, Alejandro; Kelsell, Rosemary; Parker, Michael J.; Barrett, Jeffrey C.; Hurles, Matthew E.; FitzPatrick, David R.; Firth, Helen V. Share Save
Predicting the clinical impact of human mutation with deep neural networks Sundaram, Laksshman; Gao, Hong; Padigepati, Samskruthi Reddy; McRae, Jeremy F.; Li, Yanjun; Kosmicki, Jack A.; Fritzilas, Nondas; Hakenberg, Jorg; Dutta, Anindita; Shon, John; Xu, Jinbo; Batzloglou, Serafim; Li, Xiaolin; Farh, Kyle Kai-How Share Save
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Poyhonen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J.; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E.; Kuismin, Outi; Kurki, Mitja I.; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki Share Save
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Al Turki, Saeed H.; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W.; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M. M.; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J.; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P.; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H.; Park, Soo-Mi; Parker, Michael J.; Pickardt, Thomas; Pollard, Martin O.; Robert, Leema; Roberts, David J.; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E. F.; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mandi; Klaassen, Sabine; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Devriendt, Koenraad; FitzPatrick, David R.; Brook, J. David; Hurles, Matthew E. Share Save
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription Dias, Cristina; Estruch, Sara B.; Graham, Sarah A.; McRae, Jeremy; Sawiak, Stephen J.; Hurst, Jane A.; Joss, Shelagh K.; Holder, Susan E.; Morton, Jenny E. V.; Turner, Claire; Thevenon, Julien; Mellul, Kelly; Sanchez-Andrade, Gabriela; Ibarra-Soria, Ximena; Deriziotis, Pelagia; Santos, Rui F.; Lee, Song-Choon; Faivre, Laurence; Kleefstra, Tjitske; Liu, Pentao; Hurles, Mathew E.; Fisher, Simon E.; Logan, Darren W. Share Save
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Akawi, Nadia; McRae, Jeremy; Ansari, Morad; Balasubramanian, Meena; Blyth, Moira; Brady, Angela F.; Clayton, Stephen; Cole, Trevor; Deshpande, Charu; Fitzgerald, Tomas W.; Foulds, Nicola; Francis, Richard; Gabriel, George; Gerety, Sebastian S.; Goodship, Judith; Hobson, Emma; Jones, Wendy D.; Joss, Shelagh; King, Daniel; Klena, Nikolai; Kumar, Ajith; Lees, Melissa; Lelliott, Chris; Lord, Jenny; McMullan, Dominic; O'Regan, Mary; Osio, Deborah; Piombo, Virginia; Prigmore, Elena; Rajan, Diana; Rosser, Elisabeth; Sifrim, Alejandro; Smith, Audrey; Swaminathan, Ganesh J.; Turnpenny, Peter; Whitworth, James; Wright, Caroline F.; Firth, Helen V.; Barrett, Jeffrey C.; Lo, Cecilia W.; FitzPatrick, David R.; Hurles, Matthew E. Share Save
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Wright, Caroline F.; Fitzgerald, Tomas W.; Jones, Wendy D.; Clayton, Stephen; McRae, Jeremy F.; van Kogelenberg, Margriet; King, Daniel A.; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Bevan, A. Paul; Bragin, Eugene; Chatzimichali, Eleni A.; Gribble, Susan; Jones, Philip; Krishnappa, Netravathi; Mason, Laura E.; Miller, Ray; Morley, Katherine I.; Parthiban, Vijaya; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Swaminathan, G. Jawahar; Tivey, Adrian R.; Middleton, Anna; Parker, Michael; Carter, Nigel P.; Barrett, Jeffrey C.; Hurles, Matthew E.; FitzPatrick, David R.; Firth, Helen V. Share Save
Sensory characterisation of food and beverage stimuli containing β-ionone and differences between individuals by genotype for rs6591536 Jaeger, S. R.; Reinbach, H. C.; Roigard, C. M.; McRae, J. F.; Pineau, B.; Chheang, S. L.; Beresford, M. K.; Rouse, S. A.; Jin, D.; Paisley, A. G.; Jia, Y.; Newcomb, R. D. Share Save
Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome (vol 23, pg 1596, 2013) McRae, Jeremy F.; Jaeger, Sara R.; Bava, Christina M.; Beresford, Michelle K.; Hunter, Denise; Jia, Yilin; Chheang, Sok Leang; Jin, David; Peng, Mei; Gamble, Joanna C.; Atkinson, Kelly R.; Axten, Lauren G.; Paisley, Amy G.; Williams, Liam; Tooman, Leah; Pineau, Benedicte; Rouse, Simon A.; Newcomb, Richard D. Share Save
Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome (vol 23, pg 1596, 2013) McRae, Jeremy F.; Jaeger, Sara R.; Bava, Christina M.; Beresford, Michelle K.; Hunter, Denise; Jia, Yilin; Chheang, Sok Leang; Jin, David; Peng, Mei; Gamble, Joanna C.; Atkinson, Kelly R.; Axten, Lauren G.; Paisley, Amy G.; Williams, Liam; Tooman, Leah; Pineau, Benedicte; Rouse, Simon A.; Newcomb, Richard D. Share Save
Identification of Regions Associated with Variation in Sensitivity to Food-Related Odors in the Human Genome McRae, Jeremy F.; Jaeger, Sara R.; Bava, Christina M.; Beresford, Michelle K.; Hunter, Denise; Jia, Yilin; Chheang, Sok Leang; Jin, David; Peng, Mei; Gamble, Joanna C.; Atkinson, Kelly R.; Axten, Lauren G.; Paisley, Amy G.; Williams, Liam; Tooman, Leah; Pineau, Benedicte; Rouse, Simon A.; Newcomb, Richard D. Share Save
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