Barth syndrome
Clarke, Sarah L N, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Published in Orphanet journal of rare diseases (12.02.2013)
Published in Orphanet journal of rare diseases (12.02.2013)
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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome
Menke, Leonie A., Gardeitchik, Thatjana, Hammond, Peter, Heimdal, Ketil R., Houge, Gunnar, Hufnagel, Sophia B., Ji, Jianling, Johansson, Stefan, Kant, Sarina G., Kinning, Esther, Leon, Eyby L., Newbury‐Ecob, Ruth, Paolacci, Stefano, Pfundt, Rolph, Ragge, Nicola K., Rinne, Tuula, Ruivenkamp, Claudia, Saitta, Sulagna C., Sun, Yu, Tartaglia, Marco, Terhal, Paulien A., van Essen, Anthony J., Vigeland, Magnus D., Xiao, Bing, Hennekam, Raoul C.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Published in Prenatal diagnosis (01.01.2018)
Published in Prenatal diagnosis (01.01.2018)
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Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
Klopocki, Eva, Schulze, Harald, Strauß, Gabriele, Ott, Claus-Eric, Hall, Judith, Trotier, Fabienne, Fleischhauer, Silke, Greenhalgh, Lynn, Newbury-Ecob, Ruth A., Neumann, Luitgard M., Habenicht, Rolf, König, Rainer, Seemanova, Eva, Megarbane, André, Ropers, Hans-Hilger, Ullmann, Reinhard, Horn, Denise, Mundlos, Stefan
Published in American journal of human genetics (01.02.2007)
Published in American journal of human genetics (01.02.2007)
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Journal Article
Clinical and genetic aspects of KBG syndrome
Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton-Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury-Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah
Published in American journal of medical genetics. Part A (01.11.2016)
Published in American journal of medical genetics. Part A (01.11.2016)
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Journal Article
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome
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
Published in Clinical genetics (01.06.2019)
Published in Clinical genetics (01.06.2019)
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De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder
Janssen, Beau D. E., Boogaard, Marie‐Jose H., Lichtenbelt, Klaske, Seaby, Eleanor G., Stals, Karen, Ellard, Sian, Newbury‐Ecob, Ruth, Dixit, Abhijit, Roht, Laura, Pajusalu, Sander, Õunap, Katrin, Firth, Helen V., Buckley, Michael, Wilson, Meredith, Roscioli, Tony, Tidwell, Timothy, Mao, Rong, Ennis, Sarah, Holwerda, Sjoerd J., Gassen, Koen, Jaarsveld, Richard H.
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review
Durkin, Anna, Albaba, Shadi, Fry, Andrew E., Morton, Jenny E., Douglas, Andrew, Beleza, Ana, Williams, Denise, Volker‐Touw, Catharina M.L., Lynch, Sally A., Canham, Natalie, Clowes, Virginia, Straub, Volker, Lachlan, Katherine, Gibbon, Frances, El Gamal, Mayy, Varghese, Vinod, Parker, Michael J., Newbury‐Ecob, Ruth, Turnpenny, Peter D., Gardham, Alice, Ghali, Neeti, Balasubramanian, Meena
Published in American journal of medical genetics. Part A (01.07.2020)
Published in American journal of medical genetics. Part A (01.07.2020)
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Journal Article
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases
Bownass, Lucy, Abbs, Stephen, Armstrong, Ruth, Baujat, Genevieve, Behzadi, Gry, Berentsen, Ragnhild Drage, Burren, Christine, Calder, Alistair, Cormier‐Daire, Valérie, Newbury‐Ecob, Ruth, Foulds, Nicola, Juliusson, Petur B., Kant, Sarina G., Lefroy, Henrietta, Mehta, Sarju G., Merckoll, Else, Michot, Caroline, Monsell, Fergal, Offiah, Amaka C., Richards, Allan, Rosendahl, Karen, Rustad, Cecilie F., Shears, Deborah, Tveten, Kristian, Wellesley, Diana, Wordsworth, Paul, Smithson, Sarah
Published in American journal of medical genetics. Part A (01.09.2019)
Published in American journal of medical genetics. Part A (01.09.2019)
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Journal Article
The phenotype of Floating-Harbor syndrome in 10 patients
White, Susan M., Morgan, Angela, Da Costa, Annette, Lacombe, Didier, Knight, Samantha J.L., Houlston, Richard, Whiteford, Margo L., Newbury-Ecob, Ruth A., Hurst, Jane A.
Published in American journal of medical genetics. Part A (01.04.2010)
Published in American journal of medical genetics. Part A (01.04.2010)
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Journal Article
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R, Bateman, Mark, Best, Sunayna K, Campbell, Carolyn, Carey, Georgina, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth
Published in The Lancet (British edition) (23.02.2019)
Published in The Lancet (British edition) (23.02.2019)
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Mutation in myosin heavy chain 6 causes atrial septal defect
Brook, J David, Ching, Yung-Hao, Ghosh, Tushar K, Cross, Steve J, Packham, Elizabeth A, Honeyman, Louise, Loughna, Siobhan, Robinson, Thelma E, Dearlove, Andrew M, Ribas, Gloria, Bonser, Andrew J, Thomas, Neil R, Scotter, Andrew J, Caves, Leo S D, Tyrrell, Graham P, Newbury-Ecob, Ruth A, Munnich, Arnold, Bonnet, Damien
Published in Nature genetics (01.04.2005)
Published in Nature genetics (01.04.2005)
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Journal Article
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, 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 Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, Hurles, Matthew E
Published in Nature genetics (01.09.2016)
Published in Nature genetics (01.09.2016)
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
ALBERS, Cornelis A, PAUL, Dirk S, BREUNING, Martijn H, DEBILI, Najet, DELOUKAS, Panos, FAVIER, Rémi, FIEDLER, Janine, HOBBS, Catherine M, NI HUANG, HURLES, Matthew E, KIDDLE, Graham, KRAPELS, Ingrid, SCHULZE, Harald, NURDEN, Paquita, RUIVENKAMP, Claudia A. L, SAMBROOK, Jennifer G, SMITH, Kenneth, STEMPLE, Derek L, STRAUSS, Gabriele, THYS, Chantal, GEET, Chrisvan, NEWBURY-ECOB, Ruth, OUWEHAND, Willemh, FRESON, Kathleen, GHEVAERT, Cedric, STEPHENS, Jonathan C, SMETHURST, Peter A, JOLLEY, Jennifer D, CVEJIC, Ana, KOSTADIMA, Myrto, BERTONE, Paul
Published in Nature genetics (01.04.2012)
Published in Nature genetics (01.04.2012)
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Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
Cappello, Silvia, Gray, Mary J, Badouel, Caroline, Lange, Simona, Einsiedler, Melanie, Srour, Myriam, Chitayat, David, Hamdan, Fadi F, Jenkins, Zandra A, Morgan, Tim, Preitner, Nadia, Uster, Tami, Thomas, Jackie, Shannon, Patrick, Morrison, Victoria, Di Donato, Nataliya, Van Maldergem, Lionel, Neuhann, Teresa, Newbury-Ecob, Ruth, Swinkells, Marielle, Terhal, Paulien, Wilson, Louise C, Zwijnenburg, Petra J G, Sutherland-Smith, Andrew J, Black, Michael A, Markie, David, Michaud, Jacques L, Simpson, Michael A, Mansour, Sahar, McNeill, Helen, Götz, Magdalena, Robertson, Stephen P
Published in Nature genetics (01.11.2013)
Published in Nature genetics (01.11.2013)
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Journal Article
SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect
McNeill, Alisdair, Iovino, Emanuela, Mansard, Luke, Vache, Christel, Baux, David, Bedoukian, Emma, Cox, Helen, Dean, John, Goudie, David, Kumar, Ajith, Newbury-Ecob, Ruth, Fallerini, Chiara, Renieri, Alessandra, Lopergolo, Diego, Mari, Francesca, Blanchet, Catherine, Willems, Marjolaine, Roux, Anne-Francoise, Pippucci, Tommaso, Delpire, Eric
Published in Brain (London, England : 1878) (01.08.2020)
Published in Brain (London, England : 1878) (01.08.2020)
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Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M., Newbury-Ecob, Ruth A., Challis, Rachel C., Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J., O’Driscoll, Mark
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M, Williamson, Kathleen A, Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S, Stewart, Fiona, Willoughby, Colin E, McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I, Silva, Eduardo D, Madlom, Mukhlis M, Goudie, David R, Fleck, Brian W, Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D, Gardiner, Carol, Yale, Christopher, Moore, Anthony T, Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L, Tuft, Stephen J, Solano, Juan B, Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E, Shears, Deborah J, Nischal, Ken K, Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I Karen, Lachlan, Katherine L, Damante, Giuseppe, Morrison, Danny A, van Heyningen, Veronica, FitzPatrick, David R
Published in PloS one (28.04.2016)
Published in PloS one (28.04.2016)
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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Jansen, Sandra, Geuer, Sinje, Pfundt, Rolph, Brough, Rachel, Ghongane, Priyanka, Herkert, Johanna C., Marco, Elysa J., Willemsen, Marjolein H., Kleefstra, Tjitske, Hannibal, Mark, Shieh, Joseph T., Lynch, Sally Ann, Flinter, Frances, FitzPatrick, David R., Gardham, Alice, Bernhard, Birgitta, Ragge, Nicola, Newbury-Ecob, Ruth, Bernier, Raphael, Kvarnung, Malin, Magnusson, E.A. Helena, Wessels, Marja W., van Slegtenhorst, Marjon A., Monaghan, Kristin G., de Vries, Petra, Veltman, Joris A., Lord, Christopher J., Vissers, Lisenka E.L.M., de Vries, Bert B.A.
Published in American journal of human genetics (06.04.2017)
Published in American journal of human genetics (06.04.2017)
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