Multiple Congenital Melanocytic Nevi and Neurocutaneous Melanosis Are Caused by Postzygotic Mutations in Codon 61 of NRAS
Kinsler, Veronica A., Thomas, Anna C., Ishida, Miho, Bulstrode, Neil W., Loughlin, Sam, Hing, Sandra, Chalker, Jane, McKenzie, Kathryn, Abu-Amero, Sayeda, Slater, Olga, Chanudet, Estelle, Palmer, Rodger, Morrogh, Deborah, Stanier, Philip, Healy, Eugene, Sebire, Neil J., Moore, Gudrun E.
Published in Journal of investigative dermatology (01.09.2013)
Published in Journal of investigative dermatology (01.09.2013)
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Journal Article
Maternal activating KIRs protect against human reproductive failure mediated by fetal HLA-C2
Hiby, Susan E, Apps, Richard, Sharkey, Andrew M, Farrell, Lydia E, Gardner, Lucy, Mulder, Arend, Claas, Frans H, Walker, James J, Redman, Christopher W, Redman, Christopher C, Morgan, Linda, Tower, Clare, Regan, Lesley, Moore, Gudrun E, Carrington, Mary, Moffett, Ashley
Published in The Journal of clinical investigation (01.11.2010)
Published in The Journal of clinical investigation (01.11.2010)
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Journal Article
Differential methylation is associated with non-syndromic cleft lip and palate and contributes to penetrance effects
Alvizi, Lucas, Ke, Xiayi, Brito, Luciano Abreu, Seselgyte, Rimante, Moore, Gudrun E., Stanier, Philip, Passos-Bueno, Maria Rita
Published in Scientific reports (26.05.2017)
Published in Scientific reports (26.05.2017)
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SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20
Bryant, Dale, Liu, Yang, Datta, Sanchari, Hariri, Hanaa, Seda, Marian, Anderson, Glenn, Peskett, Emma, Demetriou, Charalambos, Sousa, Sergio, Jenkins, Dagan, Clayton, Peter, Bitner-Glindzicz, Maria, Moore, Gudrun E, Henne, W Mike, Stanier, Philip
Published in Human molecular genetics (01.06.2018)
Published in Human molecular genetics (01.06.2018)
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Journal Article
The role and interaction of imprinted genes in human fetal growth
Moore, Gudrun E., Ishida, Miho, Demetriou, Charalambos, Al-Olabi, Lara, Leon, Lydia J., Thomas, Anna C., Abu-Amero, Sayeda, Frost, Jennifer M., Stafford, Jaime L., Chaoqun, Yao, Duncan, Andrew J., Baigel, Rachel, Brimioulle, Marina, Iglesias-Platas, Isabel, Apostolidou, Sophia, Aggarwal, Reena, Whittaker, John C., Syngelaki, Argyro, Nicolaides, Kypros H., Regan, Lesley, Monk, David, Stanier, Philip
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (05.03.2015)
Published in Philosophical transactions of the Royal Society of London. Series B. Biological sciences (05.03.2015)
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Journal Article
Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo
Derakhshan, Maria, Kessler, Noah J, Ishida, Miho, Demetriou, Charalambos, Brucato, Nicolas, Moore, Gudrun E, Fall, Caroline H D, Chandak, Giriraj R, Ricaut, Francois-Xavier, Prentice, Andrew M, Hellenthal, Garrett, Silver, Matt J
Published in Nucleic acids research (08.07.2022)
Published in Nucleic acids research (08.07.2022)
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Journal Article
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
Mangold, Elisabeth, Böhmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gültepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Gölz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Gül, Jäger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Nöthen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba, Stanier, Philip, Knapp, Michael, Ludwig, Kerstin U.
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
Imprinted Chromatin around DIRAS3 Regulates Alternative Splicing of GNG12-AS1, a Long Noncoding RNA
Niemczyk, Malwina, Ito, Yoko, Huddleston, Joanna, Git, Anna, Abu-Amero, Sayeda, Caldas, Carlos, Moore, Gudrun E., Stojic, Lovorka, Murrell, Adele
Published in American journal of human genetics (08.08.2013)
Published in American journal of human genetics (08.08.2013)
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Journal Article
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome
Sousa, Sérgio B, Jenkins, Dagan, Chanudet, Estelle, Tasseva, Guergana, Ishida, Miho, Anderson, Glenn, Docker, James, Ryten, Mina, Sa, Joaquim, Saraiva, Jorge M, Barnicoat, Angela, Scott, Richard, Calder, Alistair, Wattanasirichaigoon, Duangrurdee, Chrzanowska, Krystyna, Simandlová, Martina, Van Maldergem, Lionel, Stanier, Philip, Beales, Philip L, Vance, Jean E, Moore, Gudrun E
Published in Nature genetics (01.01.2014)
Published in Nature genetics (01.01.2014)
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Journal Article
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
Suntharalingham, Jenifer P, Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E, Solanky, Nita, Wakeling, Emma, Moore, Gudrun E, Achermann, John C, Buonocore, Federica
Published in Frontiers in endocrinology (Lausanne) (18.08.2022)
Published in Frontiers in endocrinology (Lausanne) (18.08.2022)
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Investigation of the Annexin A5 M2 haplotype in 500 white European couples who have experienced recurrent spontaneous abortion
Demetriou, Charalambos, Abu-amero, Sayeda, White, Shawnelle, Peskett, Emma, Markoff, Arseni, Stanier, Philip, Moore, Gudrun E, Regan, Lesley
Published in Reproductive biomedicine online (01.11.2015)
Published in Reproductive biomedicine online (01.11.2015)
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Journal Article
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight
Demetriou, Charalambos, Abu-Amero, Sayeda, Thomas, Anna C, Ishida, Miho, Aggarwal, Reena, Al-Olabi, Lara, Leon, Lydia J, Stafford, Jaime L, Syngelaki, Argyro, Peebles, Donald, Nicolaides, Kypros H, Regan, Lesley, Stanier, Philip, Moore, Gudrun E
Published in PloS one (15.01.2014)
Published in PloS one (15.01.2014)
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Journal Article
Reciprocal imprinting of human GRB10 in placental trophoblast and brain: evolutionary conservation of reversed allelic expression
Monk, David, Arnaud, Philippe, Frost, Jennifer, Hills, Frank A., Stanier, Philip, Feil, Robert, Moore, Gudrun E.
Published in Human molecular genetics (15.08.2009)
Published in Human molecular genetics (15.08.2009)
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Journal Article
Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight
Ishida, Miho, Monk, David, Duncan, Andrew J., Abu-Amero, Sayeda, Chong, Jiehan, Ring, Susan M., Pembrey, Marcus E., Hindmarsh, Peter C., Whittaker, John C., Stanier, Philip, Moore, Gudrun E.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Journal Article
A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation
Wood, Andrew J, Roberts, Roland G, Monk, David, Moore, Gudrun E, Schulz, Reiner, Oakey, Rebecca J
Published in PLoS genetics (01.02.2007)
Published in PLoS genetics (01.02.2007)
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Journal Article
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop
Iglesias-Platas, Isabel, Court, Franck, Camprubi, Cristina, Sparago, Angela, Guillaumet-Adkins, Amy, Martin-Trujillo, Alex, Riccio, Andrea, Moore, Gudrun E, Monk, David
Published in Nucleic acids research (01.02.2013)
Published in Nucleic acids research (01.02.2013)
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