Germline TET2 loss of function causes childhood immunodeficiency and lymphoma
Stremenova Spegarova, Jarmila, Lawless, Dylan, Mohamad, Siti Mardhiana Binti, Engelhardt, Karin R., Doody, Gina, Shrimpton, Jennifer, Rensing-Ehl, Anne, Ehl, Stephan, Rieux-Laucat, Frederic, Cargo, Catherine, Griffin, Helen, Mikulasova, Aneta, Acres, Meghan, Morgan, Neil V., Poulter, James A., Sheridan, Eamonn G., Chetcuti, Philip, O'Riordan, Sean, Anwar, Rashida, Carter, Clive R., Przyborski, Stefan, Windebank, Kevin, Cant, Andrew J., Lako, Majlinda, Bacon, Chris M., Savic, Sinisa, Hambleton, Sophie
Published in Blood (27.08.2020)
Published in Blood (27.08.2020)
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Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
Parry, David A., Logan, Clare V., Hayward, Bruce E., Shires, Michael, Landolsi, Hanène, Diggle, Christine, Carr, Ian, Rittore, Cécile, Touitou, Isabelle, Philibert, Laurent, Fisher, Rosemary A., Fallahian, Masoumeh, Huntriss, John D., Picton, Helen M., Malik, Saghira, Taylor, Graham R., Johnson, Colin A., Bonthron, David T., Sheridan, Eamonn G.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects
Bonnefoy, Serge, Watson, Christopher M., Kernohan, Kristin D., Lemos, Moara, Hutchinson, Sebastian, Poulter, James A., Crinnion, Laura A., Berry, Ian, Simmonds, Jennifer, Vasudevan, Pradeep, O’Callaghan, Chris, Hirst, Robert A., Rutman, Andrew, Huang, Lijia, Hartley, Taila, Grynspan, David, Moya, Eduardo, Li, Chunmei, Carr, Ian M., Bonthron, David T., Leroux, Michel, Boycott, Kym M., Bastin, Philippe, Sheridan, Eamonn G.
Published in American journal of human genetics (01.11.2018)
Published in American journal of human genetics (01.11.2018)
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A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes
Harris, Erica L., Roy, Vincent, Montagne, Martin, Rose, Ailsa M.S., Livesey, Helen, Reijnders, Margot R.F., Hobson, Emma, Sansbury, Francis H., Willemsen, Marjolein H., Pfundt, Rolph, Warren, Daniel, Long, Vernon, Carr, Ian M., Brunner, Han G., Sheridan, Eamonn G., Firth, Helen V., Lavigne, Pierre, Poulter, James A.
Published in American journal of human genetics (04.01.2024)
Published in American journal of human genetics (04.01.2024)
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HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome
Hollstein, Ronja, Parry, David A, Nalbach, Lisa, Logan, Clare V, Strom, Tim M, Hartill, Verity L, Carr, Ian M, Korenke, Georg C, Uppal, Sandeep, Ahmed, Mushtaq, Wieland, Thomas, Markham, Alexander F, Bennett, Christopher P, Gillessen-Kaesbach, Gabriele, Sheridan, Eamonn G, Kaiser, Frank J, Bonthron, David T
Published in Journal of medical genetics (01.12.2015)
Published in Journal of medical genetics (01.12.2015)
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Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis
Diggle, Christine P., Parry, David A., Logan, Clare V., Laissue, Paul, Rivera, Carolina, Restrepo, Carlos Martín, Fonseca, Dora J., Morgan, Joanne E., Allanore, Yannick, Fontenay, Michaela, Wipff, Julien, Varret, Mathilde, Gibault, Laure, Dalantaeva, Nadezhda, Korbonits, Márta, Zhou, Bowen, Yuan, Gang, Harifi, Ghita, Cefle, Kivanc, Palanduz, Sukru, Akoglu, Hadim, Zwijnenburg, Petra J., Lichtenbelt, Klaske D., Aubry-Rozier, Bérengère, Superti-Furga, Andrea, Dallapiccola, Bruno, Accadia, Maria, Brancati, Francesco, Sheridan, Eamonn G., Taylor, Graham R., Carr, Ian M., Johnson, Colin A., Markham, Alexander F., Bonthron, David T.
Published in Human mutation (01.08.2012)
Published in Human mutation (01.08.2012)
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Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
Ingham, Danielle, Diggle, Christine P., Berry, Ian, Bristow, Claire A., Hayward, Bruce E., Rahman, Nazneen, Markham, Alexander F., Sheridan, Eamonn G., Bonthron, David T., Carr, Ian M.
Published in Human mutation (01.06.2013)
Published in Human mutation (01.06.2013)
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Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome
Watson, Christopher M., Crinnion, Laura A., Tzika, Antigoni, Mills, Alison, Coates, Andrea, Pendlebury, Maria, Hewitt, Sarah, Harrison, Sally M., Daly, Catherine, Roberts, Paul, Carr, Ian M., Sheridan, Eamonn G., Bonthron, David T.
Published in American journal of medical genetics. Part A (01.10.2014)
Published in American journal of medical genetics. Part A (01.10.2014)
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GeneScreen: a program for high-throughput mutation detection in DNA sequence electropherograms
Carr, Ian M, Camm, Nick, Taylor, Graham R, Charlton, Ruth, Ellard, Sian, Sheridan, Eamonn G, Markham, Alexander F, Bonthron, David T
Published in Journal of medical genetics (01.02.2011)
Published in Journal of medical genetics (01.02.2011)
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Identification of autosomal recessive disease loci using out-bred nuclear families
Carr, Ian M., Diggle, Christine P., Touqan, Nader, Anwar, Rashida, Sheridan, Eamonn G., Bonthron, David T., Johnson, Colin A., Ali, Manir, Markham, Alexander F.
Published in Human mutation (01.02.2012)
Published in Human mutation (01.02.2012)
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De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V, Roberts, Nicola, Johnson, Colin A, Singh, Shawn, Kholmanskikh, Stanislav S, Adams, Carissa, Hodge, Rebecca D, Hevner, Robert F, Bonthron, David T, Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W, Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M, Pilz, Daniela T, Ross, M Elizabeth, Dobyns, William B, Sheridan, Eamonn G
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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