Search Results - "Durkie, Miranda"

Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease by Durkie, Miranda, Chong, Jiehan, Valluru, Manoj K., Harris, Peter C., Ong, Albert C.M.

“…To investigate the prevalence of biallelic PKD1 and PKD2 variants underlying very early onset (VEO) polycystic kidney disease (PKD) in a large international…”
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A genetic study of Wilson's disease in the United Kingdom by COFFEY, Alison J, DURKIE, Miranda, MIELI-VERGANI, Giorgina, KIRK, Richard, ELIZABETH ALLEN, K, NICHOLL, David, WONG, Siew, GRIFFITHS, William, SMITHSON, Sarah, GIFFIN, Nicola, TAHA, Ali, CONNOLLY, Sally, HAGUE, Stephen, GILLETT, Godfrey T, TANNER, Stuart, BONHAM, Jim, SHARRACK, Basil, PALOTIE, Aarno, RATTRAY, Magnus, DALTON, Ann, BANDMANN, Oliver, MCLAY, Kirsten, EMMERSON, Jennifer, LO, Christine, KLAFFKE, Stefanie, JOYCE, Christopher J, DHAWAN, Anil, HADZIC, Nedim

“…Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to…”
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Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes: APC c.3920T>A p.(Ile1307Lys) as an exemplar by McVeigh, Terri Patricia, Lalloo, Fiona, Frayling, Ian M, Latchford, Andrew, Snape, Katie, Durkie, Miranda, Monahan, Kevin J, Hanson, Helen

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Carrier testing for partners of MUTYH variant carriers: UK Cancer Genetics Group recommendations by McVeigh, Terri Patricia, Lalloo, Fiona, Monahan, Kevin J, Latchford, Andrew, Durkie, Miranda, Mein, Rachael, Baple, Emma L, Hanson, Helen

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Combining genotype with height-adjusted kidney length predicts rapid progression of ADPKD by Chen, Eugene W C, Chong, Jiehan, Valluru, Manoj K, Durkie, Miranda, Simms, Roslyn J, Harris, Peter C, Ong, Albert C M

“…Our main objective was to identify baseline prognostic factors predictive of rapid disease progression in a large unselected clinical autosomal dominant…”
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Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations by Garrett, Alice, Durkie, Miranda, Callaway, Alison, Burghel, George J, Robinson, Rachel, Drummond, James, Torr, Bethany, Cubuk, Cankut, Berry, Ian R, Wallace, Andrew J, Ellard, Sian, Eccles, Diana M, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare

“…Accurate classification of variants in cancer susceptibility genes (CSGs) is key for correct estimation of cancer risk and management of patients. Consistency…”
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Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer by McDevitt, Trudi, Durkie, Miranda, Arnold, Norbert, Burghel, George J, Butler, Samantha, Claes, Kathleen B M, Logan, Peter, Robinson, Rachel, Sheils, Katie, Wolstenholme, Nicola, Hanson, Helen, Turnbull, Clare, Hume, Stacey

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TO033VERY EARLY-ONSET AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE DUE TO BI-ALLELIC MUTATIONS IN PKD1 AND PKD2 by Chong, Jiehan, Durkie, Miranda, Dalton, Ann, Ong, Albert

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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer by McDevitt, Trudi, Durkie, Miranda, Arnold, Norbert, Burghel, George J, Butler, Samantha, Claes, Kathleen B M, Logan, Peter, Robinson, Rachel, Sheils, Katie, Wolstenholme, Nicola, Hanson, Helen, Turnbull, Clare, Hume, Stacey

“…Hereditary Breast and Ovarian Cancer (HBOC) is a genetic condition associated with increased risk of cancers. The past decade has brought about significant…”
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Reclassification of clinically-detected sequence variants: Framework for genetic clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group UK) by Loong, Lucy, Garrett, Alice, Allen, Sophie, Choi, Subin, Durkie, Miranda, Callaway, Alison, Drummond, James, Burghel, George J, Robinson, Rachel, Torr, Beth, Berry, Ian R, Wallace, Andrew J, Eccles, Diana M, Ellard, Sian, Baple, Emma, Evans, D Gareth, Woodward, Emma R, Kulkarni, Anjana, Lalloo, Fiona, Tischkowitz, Marc, Lucassen, Anneke, Hanson, Helen, Turnbull, Clare

“…Variant classifications may change over time, driven by emergence of fresh or contradictory evidence or evolution in weighing or combination of evidence items…”
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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C , RAD51D , BRIP1 and PALB2 by Hanson, Helen, Kulkarni, Anjana, Loong, Lucy, Kavanaugh, Grace, Torr, Bethany, Allen, Sophie, Ahmed, Munaza, Antoniou, Antonis C, Cleaver, Ruth, Dabir, Tabib, Evans, D Gareth, Golightly, Ellen, Jewell, Rosalyn, Kohut, Kelly, Manchanda, Ranjit, Murray, Alex, Murray, Jennie, Ong, Kai-Ren, Rosenthal, Adam N, Woodward, Emma Roisin, Eccles, Diana M, Turnbull, Clare, Tischkowitz, Marc, Lalloo, Fiona

“…Germline pathogenic variants (GPVs) in the cancer predisposition genes , , , , , , , and are identified in approximately 15% of patients with ovarian cancer…”
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The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease by Durkie, Miranda, Watson, Christopher M., Winship, Peter, Hogg, Anne-Cecile, Nyanhete, Rodney, Cooley, Sharon, Valluru, Manoj K., Shaw-Smith, Charles, Bingham, Coralie, Gilchrist, Mark, Kenny, Janna, Consortium, Genomics England Research, Ong, Albert C. M.

“…Biallelic PKD1 variants, including hypomorphic variants, can cause very early onset polycystic kidney disease (VEO-PKD). A family with unexplained recurrent…”
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Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey by Allen, Sophie, Loong, Lucy, Garrett, Alice, Torr, Bethany, Durkie, Miranda, Drummond, James, Callaway, Alison, Robinson, Rachel, Burghel, George J, Hanson, Helen, Field, Joanne, McDevitt, Trudi, McVeigh, Terri P, Bedenham, Tina, Bowles, Christopher, Bradshaw, Kirsty, Brooks, Claire, Butler, Samantha, Del Rey Jimenez, Juan Carlos, Hawkes, Lorraine, Stinton, Victoria, MacMahon, Suzanne, Owens, Martina, Palmer-Smith, Sheila, Smith, Kenneth, Tellez, James, Valganon-Petrizan, Mikel, Waskiewicz, Erik, Yau, Michael, Eccles, Diana M, Tischkowitz, Marc, Goel, Shilpi, McRonald, Fiona, Antoniou, Antonis C, Morris, Eva, Hardy, Steven, Turnbull, Clare

“…National and international amalgamation of genomic data offers opportunity for research and audit, including analyses enabling improved classification of…”
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UK recommendations for SDHA germline genetic testing and surveillance in clinical practice by Hanson, Helen, Durkie, Miranda, Lalloo, Fiona, Izatt, Louise, McVeigh, Terri P, Cook, Jackie A, Brewer, Carole, Drummond, James, Butler, Samantha, Cranston, Treena, Casey, Ruth, Tan, Tricia, Morganstein, Daniel, Eccles, Diana M, Tischkowitz, Marc, Turnbull, Clare, Woodward, Emma Roisin, Maher, Eamonn R

“…pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type…”
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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project by Pagnamenta, Alistair T, Yu, Jing, Walker, Susan, Noble, Alexandra J, Lord, Jenny, Dutta, Prasun, Hashim, Mona, Camps, Carme, Green, Hannah, Devaiah, Smrithi, Nashef, Lina, Parr, Jason, Fratter, Carl, Ibnouf Hussein, Rana, Lindsay, Sarah J, Lalloo, Fiona, Banos-Pinero, Benito, Evans, David, Mallin, Lucy, Waite, Adrian, Evans, Julie, Newman, Andrew, Allen, Zoe, Perez-Becerril, Cristina, Ryan, Gavin, Hart, Rachel, Taylor, John, Bedenham, Tina, Clement, Emma, Blair, Ed, Hay, Eleanor, Forzano, Francesca, Higgs, Jenny, Canham, Natalie, Majumdar, Anirban, McEntagart, Meriel, Lahiri, Nayana, Stewart, Helen, Smithson, Sarah, Calpena, Eduardo, Jackson, Adam, Banka, Siddharth, Titheradge, Hannah, McGowan, Ruth, Rankin, Julia, Shaw-Smith, Charles, Evans, D Gareth, Burghel, George J, Smith, Miriam J, Anderson, Emily, Madhu, Rajesh, Firth, Helen, Ellard, Sian, Brennan, Paul, Anderson, Claire, Taupin, Doug, Rogers, Mark T, Cook, Jackie A, Durkie, Miranda, East, James E, Fowler, Darren, Wilson, Louise, Igbokwe, Rebecca, Gardham, Alice, Tomlinson, Ian, Baralle, Diana, Uhlig, Holm H, Taylor, Jenny C

“…Detection of structural variants (SVs) is currently biased toward those that alter copy number. The relative contribution of inversions toward genetic disease…”
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Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records by Loong, Lucy, Huntley, Catherine, McRonald, Fiona, Santaniello, Francesco, Pethick, Joanna, Torr, Bethany, Allen, Sophie, Tulloch, Oliver, Goel, Shilpi, Shand, Brian, Rahman, Tameera, Luchtenborg, Margreet, Garrett, Alice, Barber, Richard, Bedenham, Tina, Bourn, David, Bradshaw, Kirsty, Brooks, Claire, Bruty, Jonathan, Burghel, George J, Butler, Samantha, Buxton, Chris, Callaway, Alison, Callaway, Jonathan, Drummond, James, Durkie, Miranda, Field, Joanne, Jenkins, Lucy, McVeigh, Terri P, Mountford, Roger, Nyanhete, Rodney, Petrides, Evgenia, Robinson, Rachel, Scott, Tracy, Stinton, Victoria, Tellez, James, Wallace, Andrew J, Yarram-Smith, Laura, Sahan, Kate, Hallowell, Nina, Eccles, Diana M, Pharoah, Paul, Tischkowitz, Marc, Antoniou, Antonis C, Evans, D Gareth, Lalloo, Fiona, Norbury, Gail, Morris, Eva, Burn, John, Hardy, Steven, Turnbull, Clare

“…To describe national patterns of National Health Service (NHS) analysis of mismatch repair (MMR) genes in England using individual-level data submitted to the…”
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Extent of investigation and management of cases of 'unexplained' mismatch repair deficiency (u-dMMR): a UK Cancer Genetics Group consensus by McVeigh, Terri Patricia, Monahan, Kevin J, Christopher, Joseph, West, Nick, Scott, Malcolm, Murray, Jennie, Hanson, Helen

“…Mismatch repair deficiency (dMMR) is a characteristic feature of cancers linked to Lynch syndrome. However, in most cases, it results from sporadic somatic…”
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Harnessing national pan-laboratory data for accurate quantitation of PS4 in cancer susceptibility genes: Cancer Variant Interpretation Group UK (CanVIG-UK) by Garrett, Alice, Loveday, Chey, Durkie, Miranda, Burghel, George, Drummond, James, Robinson, Rachel, Berry, Ian, Wallace, Andrew, King, Laura, Choi, Subin, Soufianopoulou, Eleni, McRonald, Fiona, Santaniello, Francesco, Burn, John, Rashbass, Jem, Hardy, Steven, Eccles, Diana, Tischkowitz, Marc, Turnbull, Clare

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OP052 - Harnessing national pan-laboratory data for accurate quantitation of PS4 in cancer susceptibility genes: Cancer Variant Interpretation Group UK (CanVIG-UK) by Garrett, Alice, Loveday, Chey, Durkie, Miranda, Burghel, George, Drummond, James, Robinson, Rachel, Berry, Ian, Wallace, Andrew, King, Laura, Choi, Subin, Soufianopoulou, Eleni, McRonald, Fiona, Santaniello, Francesco, Burn, John, Rashbass, Jem, Hardy, Steven, Eccles, Diana, Tischkowitz, Marc, Turnbull, Clare

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Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD by Garrett, Alice, Loveday, Chey, King, Laura, Butler, Samantha, Robinson, Rachel, Horton, Carrie, Yussuf, Amal, Choi, Subin, Torr, Beth, Durkie, Miranda, Burghel, George J., Drummond, James, Berry, Ian, Wallace, Andrew, Callaway, Alison, Eccles, Diana, Tischkowitz, Marc, Tatton-Brown, Katrina, Snape, Katie, McVeigh, Terri, Izatt, Louise, Woodward, Emma R., Burnichon, Nelly, Gimenez-Roqueplo, Anne-Paule, Mazzarotto, Francesco, Whiffin, Nicola, Ware, James, Hanson, Helen, Pesaran, Tina, LaDuca, Holly, Buffet, Alexandre, Maher, Eamonn R., Turnbull, Clare

“…The weight of the evidence to attach to observation of a novel rare missense variant in SDHB or SDHD in individuals with the rare neuroendocrine tumors,…”
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