Polymorphous lymphoproliferative disorder with Hodgkin-like features in common γ-chain–deficient severe combined immunodeficiency von Slatter, Mary A., MD, Angus, Brian, FRCPath, Windebank, Kevin, MD, Taylor, Alison, MSc, Meaney, Cathy, BSc, Lester, Tracey, FRCPath, Norbury, Gail, FRCPath, Hambleton, Sophie, MD, Abinun, Mario, MD, Flood, Terence J., MD, Cant, Andrew J., MD, Gennery, Andrew R., MD

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Genotypes at the GluR6 Kainate Receptor Locus are Associated with Variation in the Age of Onset of Huntington Disease von Rubinsztein, David C., Leggo, Jayne, Chiano, Mathias, Dodge, Alan, Norbury, Gail, Rosser, Elisabeth, Craufurd, David

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Non-invasive prenatal diagnosis of single gene disorders: How close are we? von Norbury, Gail, Norbury, Chris J

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What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? von Humphries, Steve E, Norbury, Gail, Leigh, Sarah, Hadfield, S Gaye, Nair, Devikair

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A Controlled Psychiatric Study of Individuals at Risk for Huntington's Disease von Shiwach, Raj S., Norbury, C. Gail

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Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia von Taylor, A, Martin, B, Wang, D, Patel, K, Humphries, SE, Norbury, G

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Carrier Frequency of a Nonsense Mutation in the Adenosine Deaminase (ADA) Gene Implies a High Incidence of ADA‐deficient Severe Combined Immunodeficiency (SCID) in Somalia and a Si... von Sanchez, Juan J., Monaghan, Gemma, Børsting, Claus, Norbury, Gail, Morling, Niels, Gaspar, H. Bobby

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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer von Porter, T R, Richards, F M, Houlston, R S, Evans, DGR, Jankowski, JA, Macdonald, F, Norbury, G, Payne, S J, Fisher, SA, Tomlinson, I, Maher, E R

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Polymorphous lymphoproliferative disorder with Hodgkin-like features in common [gamma]-chain-deficient severe combined immunodeficiency von Slatter, Mary A, Angus, Brian, Windebank, Kevin, Taylor, Alison, Meaney, Cathy, Lester, Tracey, Norbury, Gail, Hambleton, Sophie, Abinun, Mario, Flood, Terence J, Cant, Andrew J, Gennery, Andrew R

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Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer von PORTER, Timothy R, RICHARDS, Frances M, MAHER, Eamonn R, HOULSTON, Richard S, EVANS, D. Gareth R, JANKOWSKI, Janusz A, MACDONALD, Fiona, NORBURY, Gail, PAYNE, Stewart J, FISHER, Samantha A, TOMLINSON, Ian

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Are both lipid phenotype and genotype needed for cascade genetic screening in FH families? von Taylor, Alison, Neely, Dermot, Fairgrieve, Susan, Wang, Darrell, Norbury, Gail

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Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia von Taylor, A, Tabrah, S, Wang, D, Sozen, M, Duxbury, N, Whittall, R, Humphries, SE, Norbury, G

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Non-invasive Prenatal Diagnosis von Meaney, Cathy, Norbury, Gail

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A functional mutation in the LDLR promoter (-139C>G) in a patient with familial hypercholesterolemia von SMITH, Andrew J. P, AHMED, Fayha, NAIR, Devi, WHITTALL, Ros, WANG, Darrell, TAYLOR, Alison, NORBURY, Gail, HUMPHRIES, Steve E

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Genetic Pathways of Colorectal Carcinogenesis Rarely Involve the PTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes von Wang, Zhen-Jung, Taylor, Fleur, Churchman, Michael, Norbury, Gail, Tomlinson, Ian

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Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study von Loong, Lucy, Huntley, Catherine, Pethick, Joanna, McRonald, Fiona, Santaniello, Francesco, Shand, Brian, Tulloch, Oliver, Goel, Shilpi, Lüchtenborg, Margreet, Allen, Sophie, Torr, Bethany, Snape, Katie, George, Angela, Lalloo, Fiona, Norbury, Gail, Eccles, Diana M, Tischkowitz, Marc, Antoniou, Antonis C, Pharoah, Paul, Shaw, Adam, Morris, Eva, Burn, John, Monahan, Kevin, Hardy, Steven, Turnbull, Clare

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Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation von McCann, Emma, Kaye, Stephen B., Newman, William, Norbury, Gail, Black, Graeme C.M., Ellis, Ian H.

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The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation von Rossi, Massimiliano, Jones, Rachel L, Norbury, Gail, Bloch-Zupan, Agnès, Winter, Robin M

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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 labor... von 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

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Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network von Garrett, Alice, Callaway, Alison, Durkie, Miranda, Cubuk, Cankut, Alikian, Mary, Burghel, George J, Robinson, Rachel, Izatt, Louise, Talukdar, Sabrina, Side, Lucy, Cranston, Treena, Palmer-Smith, Sheila, Baralle, Diana, Berry, Ian R, Drummond, James, Wallace, Andrew J, Norbury, Gail, Eccles, Diana M, Ellard, Sian, Lalloo, Fiona, Evans, D Gareth, Woodward, Emma, Tischkowitz, Marc, Hanson, Helen, Turnbull, Clare, CanVIG-UK

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