Search Results - "Short, Patrick"

De novo mutations in regulatory elements in neurodevelopmental disorders by Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.

“…We previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo…”
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Pathogenicity and selective constraint on variation near splice sites by 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

“…Mutations that perturb normal pre-mRNA splicing are significant contributors to human disease. We used exome sequencing data from 7833 probands with…”
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Contribution of retrotransposition to developmental disorders by Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

“…Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In…”
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Towards programming immune tolerance through geometric manipulation of phosphatidylserine by Roberts, Reid A, Eitas, Timothy K, Byrne, James D, Johnson, Brandon M, Short, Patrick J, McKinnon, Karen P, Reisdorf, Shannon, Luft, J.Christopher, DeSimone, Joseph M, Ting, Jenny P

“…Abstract The possibility of engineering the immune system in a targeted fashion using biomaterials such as nanoparticles has made considerable headway in…”
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Autosomal dominant ApoA4 mutations present as tubulointerstitial kidney disease with medullary amyloidosis by Kmochová, Tereza, Kidd, Kendrah O, Orr, Andrew, Hnízda, Aleš, Hartmannová, Hana, Hodaňová, Kateřina, Vyleťal, Petr, Naušová, Karolína, Brinsa, Vítězslav, Trešlová, Helena, Sovová, Jana, Barešová, Veronika, Svojšová, Klára, Vrbacká, Alena, Stránecký, Viktor, Robins, Victoria C, Taylor, Abbigail, Martin, Lauren, Rivas-Chavez, Ana, Payne, Riley, Bleyer, Heidi A, Williams, Adrienne, Rennke, Helmut G, Weins, Astrid, Short, Patrick J, Agrawal, Varun, Storsley, Leroy J, Waikar, Sushrut S, McPhail, Ellen D, Dasari, Surendra, Leung, Nelson, Hewlett, Tom, Yorke, Jake, Gaston, Daniel, Geldenhuys, Laurette, Samuels, Mark, Levine, Adam P, West, Michael, Hůlková, Helena, Pompach, Petr, Novák, Petr, Weinberg, Richard B, Bedard, Karen, Živná, Martina, Sikora, Jakub, Bleyer, Sr, Anthony J, Kmoch, Stanislav

“…Sporadic cases of apolipoprotein A-IV medullary amyloidosis have been reported. Here we describe five families found to have autosomal dominant medullary…”
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Lifelong population connectivity between large rivers and their tributaries: A case study of shovelnose sturgeon from the Mississippi and Wisconsin rivers by Pracheil, Brenda M., Lyons, John, Hamann, Ellen J., Short, Patrick H., McIntyre, Peter B.

“…Fishes that depend on large‐river habitats have declined in many regions due to human alteration of both mainstems and tributaries. Conserving these species is…”
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Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders by Gerrard, Dave T., Berry, Andrew A., Jennings, Rachel E., Birket, Matthew J., Zarrineh, Peyman, Garstang, Myles G., Withey, Sarah L., Short, Patrick, Jiménez-Gancedo, Sandra, Firbas, Panos N., Donaldson, Ian, Sharrocks, Andrew D., Hanley, Karen Piper, Hurles, Matthew E., Gomez-Skarmeta, José Luis, Bobola, Nicoletta, Hanley, Neil A.

“…How the genome activates or silences transcriptional programmes governs organ formation. Little is known in human embryos undermining our ability to benchmark…”
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Genetic testing and awareness campaign for rare movement disorder by Engel, Patti, Letcher, Austin R., Short, Patrick

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815 IMPACT OF PARENTAL ILLNESS AND INJURY ON PEDIATRIC DISORDERS OF GUT-BRAIN INTERACTION by Short, Patrick, Sullivan, Carolyn, Susi, Apryl, Hisle-Gorman, Elizabeth

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Genetic and chemotherapeutic influences on germline hypermutation by Kaplanis, Joanna, Ide, Benjamin, Sanghvi, Rashesh, Neville, Matthew, Danecek, Petr, Coorens, Tim, Prigmore, Elena, Short, Patrick, Gallone, Giuseppe, McRae, Jeremy, Carmichael, Jenny, Barnicoat, Angela, Firth, Helen, O’Brien, Patrick, Rahbari, Raheleh, Hurles, Matthew

“…Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number…”
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Impact of Parental Illness and Injury on Pediatric Disorders of Gut–Brain Interaction by Short, Patrick, Burklow, Carolyn Sullivan, Nylund, Cade M., Susi, Apryl, Hisle-Gorman, Elizabeth

“…To evaluate the relationship between parental injury and illness and disorders of gut–brain interaction (DGBI) in children. A self-controlled case series using…”
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Quantifying the contribution of recessive coding variation to developmental disorders by Martin, Hilary C, Jones, Wendy D, McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D, Jones, Carla P, Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Bassett, Andrew, Gerety, Sebastian S, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C

“…We estimated the genome-wide contribution of recessive coding variation in 6040 families from the Deciphering Developmental Disorders study. The proportion of…”
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Association of autism spectrum disorders and gastrointestinal infections in children by Heisel, Matthew, Susi, Apryl, Short, Patrick, Rogers, Philip, Hisle-Gorman, Elizabeth, Gorman, Greg, Nylund, Cade

“…•Children with autism spectrum disorders (ASD) are more likely to be diagnosed with gastrointestinal infections than children without ASD.•Daily living skill…”
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TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed by Papantonis, Argyris, Kohro, Takahide, Baboo, Sabyasachi, Larkin, Joshua D, Deng, Binwei, Short, Patrick, Tsutsumi, Shuichi, Taylor, Stephen, Kanki, Yasuharu, Kobayashi, Mika, Li, Guoliang, Poh, Huay-Mei, Ruan, Xiaoan, Aburatani, Hiroyuki, Ruan, Yijun, Kodama, Tatsuhiko, Wada, Youichiro, Cook, Peter R

“…Tumour necrosis factor alpha (TNFα) is a potent cytokine that signals through nuclear factor kappa B (NFκB) to activate a subset of human genes. It is usually…”
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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders by Lenassi, Eva, Carvalho, Ana, Thormann, Anja, Abrahams, Liam, Arno, Gavin, Fletcher, Tracy, Hardcastle, Claire, Lopez, Javier, Hunt, Sarah E, Short, Patrick, Sergouniotis, Panagiotis I, Michaelides, Michel, Webster, Andrew, Cunningham, Fiona, Ramsden, Simon C, Kasperaviciute, Dalia, Fitzpatrick, David R, Black, Graeme C, Ellingford, Jamie M

“…Genomic variant prioritisation is one of the most significant bottlenecks to mainstream genomic testing in healthcare. Tools to improve precision while…”
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Lifelong population connectivity between large rivers and their tributaries: A case study of shovelnose sturgeon from the Mississippi and Wisconsin rivers by Pracheil, Brenda M., Lyons, John, Hamann, Ellen Joy, Short, Patrick H., McIntyre, Peter B.

“…Fishes that depend on large–river habitats have declined in many regions due to human alteration of both mainstems and tributaries. Conserving these species is…”
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TNF[alpha] signals through specialized factories where responsive coding and miRNA genes are transcribed by Papantonis, Argyris, Kohro, Takahide, Baboo, Sabyasachi, Larkin, Joshua D, Deng, Binwei, Short, Patrick, Tsutsumi, Shuichi, Taylor, Stephen, Kanki, Yasuharu, Kobayashi, Mika, Li, Guoliang, Poh, Huay-mei, Ruan, Xiaoan, Aburatani, Hiroyuki, Ruan, Yijun, Kodama, Tatsuhiko, Wada, Youichiro, Cook, Peter R

“…Tumour necrosis factor alpha (TNFα) is a potent cytokine that signals through nuclear factor kappa B (NFκB) to activate a subset of human genes. It is usually…”
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TNFα signals through specialized factories where responsive coding and miRNA genes are transcribed: Specialized transcription factories by Papantonis, Argyris, Kohro, Takahide, Baboo, Sabyasachi, Larkin, Joshua D, Deng, Binwei, Short, Patrick, Tsutsumi, Shuichi, Taylor, Stephen, Kanki, Yasuharu, Kobayashi, Mika, Li, Guoliang, Poh, Huay-Mei, Ruan, Xiaoan, Aburatani, Hiroyuki, Ruan, Yijun, Kodama, Tatsuhiko, Wada, Youichiro, Cook, Peter R

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The effects of the Alabama reading initiative on reading achievement in fourth grade students by Short, Shawn Patrick

“…Vaughan (2000) argued the Alabama Reading Initiative (ARI) is a cornerstone in the effort to achieve the most effective reading instruction. This statement was…”
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DNA isn't a marketing tool by Short, Patrick

“…Genetic testing companies should separate science and marketing to avoid bringing the industry into disrepute, says Patrick Short…”
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