Evolution of a Membrane Protein Regulon in Saccharomyces

Por Martin, Hilary C., Roop, Jeremy I., Schraiber, Joshua G., Hsu, Tiffany Y., Brem, Rachel B.
Publicado em 2012

Imperfect centered miRNA binding sites are common and can mediate repression of target mRNAs

Por Martin, Hilary C, Wani, Shivangi, Steptoe, Anita L, Krishnan, Keerthana, Nones, Katia, Nourbakhsh, Ehsan, Vlassov, Alexander, Grimmond, Sean M, Cloonan, Nicole
Publicado em 2014

Human Slack potassium channel mutations increase positive cooperativity between individual channels

Por Kim, Grace E., Kronengold, Jack, Barcia, Giulia, Quraishi, Imran H., Martin, Hilary C., Blair, Edward, Taylor, Jenny C., Dulac, Olivier, Colleaux, Laurence, Nabbout, Rima, Kaczmarek, Leonard K.
Publicado no Cell Rep (2014)

Geographical Genomics of Human Leukocyte Gene Expression Variation in Southern Morocco

Por Idaghdour, Youssef, Czika, Wendy, Shianna, Kevin V., Lee, S. Hong, Visscher, Peter M., Martin, Hilary C., Miclaus, Kelci, Jadallah, Sami J., Goldstein, David B., Wolfinger, Russell D., Gibson, Greg
Publicado em 2009

miR-139-5p is a regulator of metastatic pathways in breast cancer

Por Krishnan, Keerthana, Steptoe, Anita L., Martin, Hilary C., Pattabiraman, Diwakar R., Nones, Katia, Waddell, Nic, Mariasegaram, Mythily, Simpson, Peter T., Lakhani, Sunil R., Vlassov, Alexander, Grimmond, Sean M., Cloonan, Nicole
Publicado em 2013

MicroRNA-182-5p targets a network of genes involved in DNA repair

Por Krishnan, Keerthana, Steptoe, Anita L., Martin, Hilary C., Wani, Shivangi, Nones, Katia, Waddell, Nic, Mariasegaram, Mythily, Simpson, Peter T., Lakhani, Sunil R., Gabrielli, Brian, Vlassov, Alexander, Cloonan, Nicole, Grimmond, Sean M.
Publicado em 2013

Insights into Platypus Population Structure and History from Whole-Genome Sequencing

Por Martin, Hilary C, Batty, Elizabeth M, Hussin, Julie, Westall, Portia, Daish, Tasman, Kolomyjec, Stephen, Piazza, Paolo, Bowden, Rory, Hawkins, Margaret, Grant, Tom, Moritz, Craig, Grutzner, Frank, Gongora, Jaime, Donnelly, Peter
Publicado no Mol Biol Evol (2018)

Evaluating drug targets through human loss-of-function genetic variation

Por Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.
Publicado no Nature (2020)

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

Por van Schouwenburg, Pauline A., Davenport, Emma E., Kienzler, Anne-Kathrin, Marwah, Ishita, Wright, Benjamin, Lucas, Mary, Malinauskas, Tomas, Martin, Hilary C., Lockstone, Helen E., Cazier, Jean-Baptiste, Chapel, Helen M., Knight, Julian C., Patel, Smita Y.
Publicado no Clin Immunol (2015)

Cohort Profile: East London Genes & Health (ELGH), a community-based population genomics and health study in British Bangladeshi and British Pakistani people

Por Finer, Sarah, Martin, Hilary C, Khan, Ahsan, Hunt, Karen A, MacLaughlin, Beverley, Ahmed, Zaheer, Ashcroft, Richard, Durham, Ceri, MacArthur, Daniel G, McCarthy, Mark I, Robson, John, Trivedi, Bhavi, Griffiths, Chris, Wright, John, Trembath, Richard C, van Heel, David A
Publicado no Int J Epidemiol (2020)

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Por Niemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui, Gecz, Jozef, Martin, Nicholas G., Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Publicado no Nature (2018)

Multicohort analysis of the maternal age effect on recombination

Por Martin, Hilary C., Christ, Ryan, Hussin, Julie G., O'Connell, Jared, Gordon, Scott, Mbarek, Hamdi, Hottenga, Jouke-Jan, McAloney, Kerrie, Willemsen, Gonnecke, Gasparini, Paolo, Pirastu, Nicola, Montgomery, Grant W., Navarro, Pau, Soranzo, Nicole, Toniolo, Daniela, Vitart, Veronique, Wilson, James F., Marchini, Jonathan, Boomsma, Dorret I., Martin, Nicholas G., Donnelly, Peter
Publicado no Nat Commun (2015)

MicroRNAs and their isomiRs function cooperatively to target common biological pathways

Por Cloonan, Nicole, Wani, Shivangi, Xu, Qinying, Gu, Jian, Lea, Kristi, Heater, Sheila, Barbacioru, Catalin, Steptoe, Anita L, Martin, Hilary C, Nourbakhsh, Ehsan, Krishnan, Keerthana, Gardiner, Brooke, Wang, Xiaohui, Nones, Katia, Steen, Jason A, Matigian, Nicholas A, Wood, David L, Kassahn, Karin S, Waddell, Nic, Shepherd, Jill, Lee, Clarence, Ichikawa, Jeff, McKernan, Kevin, Bramlett, Kelli, Kuersten, Scott, Grimmond, Sean M
Publicado em 2011

Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice

Por Pagnamenta, Alistair T, Heemeryck, Pierre, Martin, Hilary C, Bosc, Christophe, Peris, Leticia, Uszynski, Ivy, Gory-Fauré, Sylvie, Couly, Simon, Deshpande, Charu, Siddiqui, Ata, Elmonairy, Alaa A, Jayawant, Sandeep, Murthy, Sarada, Walker, Ian, Loong, Lucy, Bauer, Peter, Vossier, Frédérique, Denarier, Eric, Maurice, Tangui, Barbier, Emmanuel L, Deloulme, Jean-Christophe, Taylor, Jenny C, Blair, Edward M, Andrieux, Annie, Moutin, Marie-Jo
Publicado no Hum Mol Genet (2019)

Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome

Por Pagnamenta, Alistair T., Kaisaki, Pamela J., Bennett, Fenella, Burkitt‐Wright, Emma, Martin, Hilary C., Ferla, Matteo P., Taylor, John M., Gompertz, Lianne, Lahiri, Nayana, Tatton‐Brown, Katrina, Newbury‐Ecob, Ruth, Henderson, Alex, Joss, Shelagh, Weber, Astrid, Carmichael, Jenny, Turnpenny, Peter D., McKee, Shane, Forzano, Francesca, Ashraf, Tazeen, Bradbury, Kimberley, Shears, Deborah, Kini, Usha, de Burca, Anna, Blair, Edward, Taylor, Jenny C., Stewart, Helen
Publicado no Clin Genet (2019)

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Por Davies, Benjamin, Brown, Laurence A, Cais, Ondrej, Watson, Jake, Clayton, Amber J, Chang, Veronica T, Biggs, Daniel, Preece, Christopher, Hernandez-Pliego, Polinka, Krohn, Jon, Bhomra, Amarjit, Twigg, Stephen R F, Rimmer, Andrew, Kanapin, Alexander, Sen, Arjune, Zaiwalla, Zenobia, McVean, Gil, Foster, Russell, Donnelly, Peter, Taylor, Jenny C, Blair, Edward, Nutt, David, Aricescu, A Radu, Greger, Ingo H, Peirson, Stuart N, Flint, Jonathan, Martin, Hilary C
Publicado no Hum Mol Genet (2017)

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

Por Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., Taylor, Jenny C.
Publicado em 2014

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Por Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, Retterer, Kyle
Publicado no Nature (2020)

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

Por Mbarek, Hamdi, Steinberg, Stacy, Nyholt, Dale R., Gordon, Scott D., Miller, Michael B., McRae, Allan F., Hottenga, Jouke Jan, Day, Felix R., Willemsen, Gonneke, de Geus, Eco J., Davies, Gareth E., Martin, Hilary C., Penninx, Brenda W., Jansen, Rick, McAloney, Kerrie, Vink, Jacqueline M., Kaprio, Jaakko, Plomin, Robert, Spector, Tim D., Magnusson, Patrik K., Reversade, Bruno, Harris, R. Alan, Aagaard, Kjersti, Kristjansson, Ragnar P., Olafsson, Isleifur, Eyjolfsson, Gudmundur Ingi, Sigurdardottir, Olof, Iacono, William G., Lambalk, Cornelis B., Montgomery, Grant W., McGue, Matt, Ong, Ken K., Perry, John R.B., Martin, Nicholas G., Stefánsson, Hreinn, Stefánsson, Kari, Boomsma, Dorret I.
Publicado no Am J Hum Genet (2016)

Quantifying the contribution of recessive coding variation to developmental disorders

Por 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.
Publicado no Science (2018)