Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

by Vilema-Enríquez, Gabriela, Quinlan, Robert, Kilfeather, Peter, Mazzone, Roberta, Saqlain, Saba, del Molino del Barrio, Irene, Donato, Annalidia, Corda, Gabriele, Li, Fengling, Vedadi, Masoud, Németh, Andrea H., Brennan, Paul E., Wade-Martins, Richard
Published in The Journal of biological chemistry

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Published in American journal of human genetics

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Jayawant, Sandeep, Lickiss, Jennifer, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Published in American journal of human genetics

Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44

by Watson, Lauren M., Bamber, Elizabeth, Schnekenberg, Ricardo Parolin, Williams, Jonathan, Bettencourt, Conceição, Lickiss, Jennifer, Jayawant, Sandeep, Fawcett, Katherine, Clokie, Samuel, Wallis, Yvonne, Clouston, Penny, Sims, David, Houlden, Henry, Becker, Esther B.E., Németh, Andrea H.
Published in American journal of human genetics

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

by McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome

by Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.
Published in American journal of human genetics

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

by Németh, Andrea H., Bochukova, Elena, Dunne, Eimear, Huson, Susan M., Elston, John, Hannan, Mohammed A., Jackson, Matthew, Chapman, Cyril J., Taylor, A. Malcolm R.
Published in American journal of human genetics

Meaningful and Measurable Health Domains in Huntington’s Disease: Large-Scale Validation of the Huntington’s Disease Health-Related Quality of Life Questionnaire Across Severity St...

by Ho, Aileen K., Landwehrmeyer, G. Bernhard, Rae, Daniela, Simpson, Sheila A., de Souza (Keylock), Jenny, Coulthard, Elizabeth, Gethin, Louise, Barker, Roger A., Fisher, Kate, Goodman, Anna, Hill, Susan, Swain, Rachel, Guzman, Natalie Valle, Callaghan, Jenny, Fullam, Ruth, Rosser, Anne, Tonner, Alison, Edwards, Maureen, Ho, Carrie, Pearson, Pauline, Foster, Jillian, McKenzie, Sue, Rothery, Jean, Deith, Catherine, Ireland, Jane, Harding, Alison, Laver, Fiona, Silva, Mark, Rowett, Liz, Musgrave, Hannah, Toscano, Jean, Gerrans, Emily, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Rose, Sarah, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Lashwood, Alison, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Doherty, Karen, Haider, Salman, Robertson, Nicola, Tabrizi, Sarah, Taylor, Rachel, Bek, Judith, Craufurd, David, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Oughton, Emma, Partington-Jones, Lucy, Westmoreland, Leann, Davidson, Lynn, Davison, Jill, Morgan, Karen, Savage, Lois, Wood, Josh, Siuda, Gill, Dixon, Kathryn, Armstrong, Richard, Burn, John, Weekes, Rebecca, Craven, Janet, Verstraelen (Ritchie), Nicola, Barrett, Wendy, Bandmann, Oliver, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, Peppa, Nadia, Quarrell, Oliver, Tidswell, Katherine, Gunner, Kerry, Harris, Kayla, Anderson, Mary, Keys, Liane, Smalley, Sarah, El-Nimr, George, Duffell, Allison, Kennedy (nee Smith), Karen, Bucher, Walter, de Schepper, Beatrice, Eden, John, Hendrikx, Victor, King, Diana, Lenon-Bird, Anne, Rapaille, Lilliane, Santini, Helen, Sasinkova, Pavla, Soltysiak, Beverley, Smith, Steve, van der Leer, Hans, van der Meer, Lucienne, Wooldridge, Michael
Published in Value in health

Refined Linkage Disequilibrium and Physical Mapping of the Gene Locus for X-Linked Dystonia–Parkinsonism (DYT3)

by Németh, Andrea H., Nolte, Dagmar, Dunne, Eimear, Niemann, Stephan, Kostrzewa, Markus, Peters, Usha, Fraser, Eileen, Bochukova, Elena, Butler, Robin, Brown, Julie, Cox, Roger D., Levy, Elaine R., Ropers, Hans-Hilger, Monaco, Anthony P., Müller, Ulrich
Published in Genomics (San Diego, Calif.)

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

by Aitken, Stuart, McRae, Jeremy, Kini, Usha, Parker, Michael J., Joss, Shelagh, Scott, Richard H., Hurles, Matthew E., FitzPatrick, David R., Morley, K.I., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Krishnappa, N., Mason, L.E., Middleton, A., Prigmore, E., Tivey, A.R., Akawi, N., Andrews, R., Armstrong, R., Balasubramanian, M., Banerjee, R., Baty, D., Bernhard, B., Blair, E., Bourn, D., Brady, A., Brewer, C., Burn, J., Connell, F., Cooper, N., Cross, G., Dixit, A., Ellis, P., Fendick, T., Fisher, R., Greenhalgh, L., Hawkins, R., Hobson, E., Holden, S., Holder, S., Hurst, J., Ingram, S., Jarvis, J., Johnson, D., Joss, S., Kaemba, B., Kirby, G., Kraus, A., Kumar, D., Lim, D., Lowther, G., Marks, K., Maye, U., McConnell, V., McGowan, R., McMullan, D.J., Metcalfe, K., Mohammed, S., Nevitt, L., Newbury-Ecob, R., Ogilvie, C., Paterson, J., Payne, S., Porteous, D., Raymond, L., Roberts, E., Roberts, G., Roberts, P., Ross, A., Saggar, A., Sandford, R., Schweiger, S., Scott, C., Selby, A., Seller, A., Shears, D., Singzon, R., Smith, B., Sneddon, L., Stewart, F., Stewart, H., Suri, M., Swaminathan, G.J., Sweeney, E., Tolmie, J., Turner, C., Tysoe, C., Vasudevan, P., Vogt, J., Waters, J., Wellesley, D., Widaa, S., Wilcox, S., Williams, N., Yang, F., Wright, C.F., Barrett, J.C., Hurles, M.E.
Published in American journal of human genetics

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells

by Vilema-Enríquez, Gabriela, Quinlan, Robert, Kilfeather, Peter, Mazzone, Roberta, Saqlain, Saba, Del Molino Del Barrio, Irene, Donato, Annalidia, Corda, Gabriele, Li, Fengling, Vedadi, Masoud, Németh, Andrea H, Brennan, Paul E, Wade-Martins, Richard
Published in The Journal of biological chemistry

A novel gene, DXS8237E, lies within 20 kb upstream of UBE1 in Xp11.23 and has a different X inactivation status

by COLEMAN, M. P, AMBROSE, H. J, CARREL, L, NEMETH, A. H, WILLARD, H. F, DAVIES, K. E
Published in Genomics (San Diego, Calif.)

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia‐Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

by Nemeth, Andrea H., Bochukova, Elena, Dunne, Eimear, Huson, Susan M., Elston, John, Hannan, Mohammed A., Jackson, Matthew, Chapman, Cyril J., Taylor, A. Malcolm R.
Published in American journal of human genetics

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21

by Rubio, Justin P., Danek, Adrian, Stone, Caroline, Chalmers, Richard, Wood, Nicholas, Verellen, Christine, Ferrer, Xavier, Malandrini, Alessandro, Fabrizi, Gian M., Manfredi, Michela, Vance, Jefferey, Pericak-Vance, Margaret, Brown, Robert, Rudolf, Gabrielle, Picard, Fabienne, Alonso, Elisa, Brin, Mitchell, Németh, Andrea H., Farrall, Martin, Monaco, Anthony P.
Published in American journal of human genetics

A bidirectional YAC walk from the Norrie disease (NDP) locus

by Black, Graeme C.M., Coleman, Michael P., Chen, Zheng-Yi, Nemeth, Andrea H., Davies, Kay E., Craig, Ian W.
Published in Genomics (San Diego, Calif.)

A 1.8-Mb YAC Contig in Xp11.23: Identification of CpG Islands and Physical Mapping of CA Repeats in a Region of High Gene Density

by Coleman, Michael P., Németh, Andrea H., Campbell, Louise, Raut, Chandrajit P., Weissenbach, Jean, Davies, Kay E.
Published in Genomics (San Diego, Calif.)