The ICR639 CPG NGS validation series: A resource to assess analytical sensitivity of cancer predisposition gene testing

por Mahamdallie, Shazia, Ruark, Elise, Holt, Esty, Poyastro-Pearson, Emma, Renwick, Anthony, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado 2018

OpEx - a validated, automated pipeline optimised for clinical exome sequence analysis

por Ruark, Elise, Münz, Márton, Clarke, Matthew, Renwick, Anthony, Ramsay, Emma, Elliott, Anna, Seal, Sheila, Lunter, Gerton, Rahman, Nazneen
Publicado 2016

CoverView: a sequence quality evaluation tool for next generation sequencing data

por Münz, Márton, Mahamdallie, Shazia, Yost, Shawn, Rimmer, Andrew, Poyastro-Pearson, Emma, Strydom, Ann, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Publicado 2018

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing  data quality assurance

por Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Münz, Márton, Renwick, Anthony, Poyastro-Pearson, Emma, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado 2018

The ICR142 NGS validation series: a resource for orthogonal assessment of NGS analysis

por Ruark, Elise, Renwick, Anthony, Clarke, Matthew, Snape, Katie, Ramsay, Emma, Elliott, Anna, Hanks, Sandra, Strydom, Ann, Seal, Sheila, Rahman, Nazneen
Publicado 2018

CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting

por Münz, Márton, Ruark, Elise, Renwick, Anthony, Ramsay, Emma, Clarke, Matthew, Mahamdallie, Shazia, Cloke, Victoria, Seal, Sheila, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Publicado 2015

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN

por Fowler, Anna, Mahamdallie, Shazia, Ruark, Elise, Seal, Sheila, Ramsay, Emma, Clarke, Matthew, Uddin, Imran, Wylie, Harriet, Strydom, Ann, Lunter, Gerton, Rahman, Nazneen
Publicado 2016

The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data

por Mahamdallie, Shazia, Ruark, Elise, Yost, Shawn, Ramsay, Emma, Uddin, Imran, Wylie, Harriett, Elliott, Anna, Strydom, Ann, Renwick, Anthony, Seal, Sheila, Rahman, Nazneen
Publicado 2017

The ICR1000 UK exome series: a resource of gene variation in an outbred population

por Ruark, Elise, Münz, Márton, Renwick, Anthony, Clarke, Matthew, Ramsay, Emma, Hanks, Sandra, Mahamdallie, Shazia, Elliott, Anna, Seal, Sheila, Strydom, Ann, Gerton, Lunter, Rahman, Nazneen
Publicado 2015

Implementing rapid, robust, cost-effective, patient-centred, routine genetic testing in ovarian cancer patients

por George, Angela, Riddell, Daniel, Seal, Sheila, Talukdar, Sabrina, Mahamdallie, Shazia, Ruark, Elise, Cloke, Victoria, Slade, Ingrid, Kemp, Zoe, Gore, Martin, Strydom, Ann, Banerjee, Susana, Hanson, Helen, Rahman, Nazneen
Publicado 2016

Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours

por Litchfield, Kevin, Summersgill, Brenda, Yost, Shawn, Sultana, Razvan, Labreche, Karim, Dudakia, Darshna, Renwick, Anthony, Seal, Sheila, Al-Saadi, Reem, Broderick, Peter, Turner, Nicholas C., Houlston, Richard S., Huddart, Robert, Shipley, Janet, Turnbull, Clare
Publicado 2015

Evaluation of Cancer-Based Criteria for Use in Mainstream BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer

por Kemp, Zoe, Turnbull, Alice, Yost, Shawn, Seal, Sheila, Mahamdallie, Shazia, Poyastro-Pearson, Emma, Warren-Perry, Margaret, Eccleston, Anthony, Tan, Min-Min, Teo, Soo Hwang, Turner, Nicholas, Strydom, Ann, George, Angela, Rahman, Nazneen
Publicado 2019

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability

por Tatton-Brown, Katrina, Loveday, Chey, Yost, Shawn, Clarke, Matthew, Ramsay, Emma, Zachariou, Anna, Elliott, Anna, Wylie, Harriet, Ardissone, Anna, Rittinger, Olaf, Stewart, Fiona, Temple, I. Karen, Cole, Trevor, Mahamdallie, Shazia, Seal, Sheila, Ruark, Elise, Rahman, Nazneen
Publicado 2017

Germline mutations in the PAF1 complex gene CTR9 predispose to Wilms tumour

por Hanks, Sandra, Perdeaux, Elizabeth R., Seal, Sheila, Ruark, Elise, Mahamdallie, Shazia S., Murray, Anne, Ramsay, Emma, Del Vecchio Duarte, Silvana, Zachariou, Anna, de Souza, Bianca, Warren-Perry, Margaret, Elliott, Anna, Davidson, Alan, Price, Helen, Stiller, Charles, Pritchard-Jones, Kathy, Rahman, Nazneen
Publicado 2014

Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14

por Ruark, Elise, Seal, Sheila, McDonald, Heather, Zhang, Feng, Elliot, Anna, Lau, KingWai, Perdeaux, Elizabeth, Rapley, Elizabeth, Eeles, Rosalind, Peto, Julian, Kote-Jarai, Zsofia, Muir, Kenneth, Nsengimana, Jeremie, Shipley, Janet, Bishop, D. Timothy, Stratton, Michael R, Easton, Douglas F, Huddart, Robert A, Rahman, Nazneen, Turnbull, Clare
Publicado 2013

Mutations in the DNA methyltransferase gene, DNMT3A, cause an overgrowth syndrome with intellectual disability

por Tatton-Brown, Katrina, Seal, Sheila, Ruark, Elise, Harmer, Jenny, Ramsay, Emma, del Vecchio Duarte, Silvana, Zachariou, Anna, Hanks, Sandra, O’Brien, Eleanor, Aksglaede, Lise, Baralle, Diana, Dabir, Tabib, Gener, Blanca, Goudie, David, Homfray, Tessa, Kumar, Ajith, Pilz, Daniela T, Selicorni, Angelo, Temple, I Karen, Van Maldergem, Lionel, Yachelevich, Naomi, van Montfort, Robert, Rahman, Nazneen
Publicado 2014

Identification of new Wilms tumour predisposition genes: an exome sequencing study

por Mahamdallie, Shazia, Yost, Shawn, Poyastro-Pearson, Emma, Holt, Esty, Zachariou, Anna, Seal, Sheila, Elliott, Anna, Clarke, Matthew, Warren-Perry, Margaret, Hanks, Sandra, Anderson, John, Bomken, Simon, Cole, Trevor, Farah, Roula, Furtwaengler, Rhoikos, Glaser, Adam, Grundy, Richard, Hayden, James, Lowis, Steve, Millot, Frédéric, Nicholson, James, Ronghe, Milind, Skeen, Jane, Williams, Denise, Yeomanson, Daniel, Ruark, Elise, Rahman, Nazneen
Publicado 2019

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Duarte, Silvana Del Vecchio, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2011

Correction: Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height

por Tatton-Brown, Katrina, Hanks, Sandra, Ruark, Elise, Zachariou, Anna, Del Vecchio Duarte, Silvana, Ramsay, Emma, Snape, Katie, Murray, Anne, Perdeaux, Elizabeth R, Seal, Sheila, Loveday, Chey, Banka, Siddharth, Clericuzio, Carol, Flinter, Frances, Magee, Alex, McConnell, Vivienne, Patton, Michael, Raith, Wolfgang, Rankin, Julia, Splitt, Miranda, Strenger, Volker, Taylor, Clare, Wheeler, Patricia, Temple, I Karen, Cole, Trevor, Douglas, Jenny, Rahman, Nazneen
Publicado 2018

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

por Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021