Aspirin for prevention of cancer and cardiovascular disease

ανά Rose, Peter W, Watson, Eila K, Jenkins, Lucy SC
Έκδοση 2011

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

ανά Landa, Priya, Differ, Ann-Marie, Rajput, Kaukab, Jenkins, Lucy, Bitner-Glindzicz, Maria
Έκδοση 2013

Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

ανά Verhoef, Talitha I., Hill, Melissa, Drury, Suzanne, Mason, Sarah, Jenkins, Lucy, Morris, Stephen, Chitty, Lyn S.
Τόπος έκδοσης Prenat Diagn (2016)

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach

ανά Chitty, Lyn S, Mason, Sarah, Barrett, Angela N, McKay, Fiona, Lench, Nicholas, Daley, Rebecca, Jenkins, Lucy A
Τόπος έκδοσης Prenat Diagn (2015)

Catalytic Dinitrogen Reduction to Ammonia at a Triamidoamine–Titanium Complex

ανά Doyle, Laurence R., Wooles, Ashley J., Jenkins, Lucy C., Tuna, Floriana, McInnes, Eric J. L., Liddle, Stephen T.
Τόπος έκδοσης Angew Chem Int Ed Engl (2018)

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis

ανά Hill, Melissa, Twiss, Philip, Verhoef, Talitha I, Drury, Suzanne, McKay, Fiona, Mason, Sarah, Jenkins, Lucy, Morris, Stephen, Chitty, Lyn S
Τόπος έκδοσης Prenat Diagn (2015)

Clinical and diagnostic features of Bartter and Gitelman syndromes

ανά Walsh, Patrick R, Tse, Yincent, Ashton, Emma, Iancu, Daniela, Jenkins, Lucy, Bienias, Marc, Kleta, Robert, van’t Hoff, William, Bockenhauer, Detlef
Τόπος έκδοσης Clin Kidney J (2018)

Ensuring high standards for the delivery of NIPT world‐wide: Development of an international external quality assessment scheme

ανά Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Gutowska‐Ding, Weronika, Patton, Simon J., Chitty, Lyn S., Hastings, Ros J.
Τόπος έκδοσης Prenat Diagn (2019)

Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion

ανά Deans, Zandra C., Allen, Stephanie, Jenkins, Lucy, Khawaja, Farrah, Hastings, Ros J., Mann, Kathy, Patton, Simon J., Sistermans, Erik A., Chitty, Lyn S.
Τόπος έκδοσης Prenat Diagn (2017)

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

ανά Trump, Natalie, McTague, Amy, Brittain, Helen, Papandreou, Apostolos, Meyer, Esther, Ngoh, Adeline, Palmer, Rodger, Morrogh, Deborah, Boustred, Christopher, Hurst, Jane A, Jenkins, Lucy, Kurian, Manju A, Scott, Richard H
Τόπος έκδοσης J Med Genet (2016)

Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down’s syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units

ανά Chitty, Lyn S, Wright, David, Hill, Melissa, Verhoef, Talitha I, Daley, Rebecca, Lewis, Celine, Mason, Sarah, McKay, Fiona, Jenkins, Lucy, Howarth, Abigail, Cameron, Louise, McEwan, Alec, Fisher, Jane, Kroese, Mark, Morris, Stephen
Τόπος έκδοσης BMJ (2016)

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

ανά Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D, Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A, Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L, Williams, Hywel J
Τόπος έκδοσης J Med Genet (2018)

Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis

ανά Omoyinmi, Ebun, Standing, Ariane, Keylock, Annette, Price-Kuehne, Fiona, Melo Gomes, Sonia, Rowczenio, Dorota, Nanthapisal, Sira, Cullup, Thomas, Nyanhete, Rodney, Ashton, Emma, Murphy, Claire, Clarke, Megan, Ahlfors, Helena, Jenkins, Lucy, Gilmour, Kimberly, Eleftheriou, Despina, Lachmann, Helen J., Hawkins, Philip N., Klein, Nigel, Brogan, Paul A.
Τόπος έκδοσης PLoS One (2017)

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

ανά Fassad, Mahmoud R., Shoemark, Amelia, le Borgne, Pierrick, Koll, France, Patel, Mitali, Dixon, Mellisa, Hayward, Jane, Richardson, Charlotte, Frost, Emily, Jenkins, Lucy, Cullup, Thomas, Chung, Eddie M.K., Lemullois, Michel, Aubusson-Fleury, Anne, Hogg, Claire, Mitchell, David R., Tassin, Anne-Marie, Mitchison, Hannah M.
Τόπος έκδοσης Am J Hum Genet (2018)

Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing

ανά Engelhardt, Karin R., Xu, Yaobo, Grainger, Angela, Germani Batacchi, Mila G. C., Swan, David J., Willet, Joseph D. P., Abd Hamid, Intan J., Agyeman, Philipp, Barge, Dawn, Bibi, Shahnaz, Jenkins, Lucy, Flood, Terence J., Abinun, Mario, Slatter, Mary A., Gennery, Andrew R., Cant, Andrew J., Santibanez Koref, Mauro, Gilmour, Kimberly, Hambleton, Sophie
Τόπος έκδοσης J Clin Immunol (2016)

Delineation of the movement disorders associated with FOXG1 mutations

ανά Papandreou, Apostolos, Schneider, Ruth B., Augustine, Erika F., Ng, Joanne, Mankad, Kshitij, Meyer, Esther, McTague, Amy, Ngoh, Adeline, Hemingway, Cheryl, Robinson, Robert, Varadkar, Sophia M., Kinali, Maria, Salpietro, Vincenzo, O'Driscoll, Margaret C., Basheer, S. Nigel, Webster, Richard I., Mohammad, Shekeeb S., Pula, Shpresa, McGowan, Marian, Trump, Natalie, Jenkins, Lucy, Elmslie, Frances, Scott, Richard H., Hurst, Jane A., Perez-Duenas, Belen, Paciorkowski, Alexander R., Kurian, Manju A.
Τόπος έκδοσης Neurology (2016)

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

ανά Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.
Τόπος έκδοσης Am J Hum Genet (2018)

Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome

ανά Dufek, Stephanie, Cheshire, Chris, Levine, Adam P., Trompeter, Richard S., Issler, Naomi, Stubbs, Matthew, Mozere, Monika, Gupta, Sanjana, Klootwijk, Enriko, Patel, Vaksha, Hothi, Daljit, Waters, Aoife, Webb, Hazel, Tullus, Kjell, Jenkins, Lucy, Godinho, Lighta, Levtchenko, Elena, Wetzels, Jack, Knoers, Nine, Teeninga, Nynke, Nauta, Jeroen, Shalaby, Mohamed, Eldesoky, Sherif, Kari, Jameela A., Thalgahagoda, Shenal, Ranawaka, Randula, Abeyagunawardena, Asiri, Adeyemo, Adebowale, Kristiansen, Mark, Gbadegesin, Rasheed, Webb, Nicholas J., Gale, Daniel P., Stanescu, Horia C., Kleta, Robert, Bockenhauer, Detlef
Τόπος έκδοσης J Am Soc Nephrol (2019)

A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

ανά Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A, Patel, Mitali P., Robson, Evelyn A., Hayward, Jane, Scully, Juliet, Fassad, Mahmoud R., Lamb, William, Schmidts, Miriam, Dixon, Mellisa, Patel-King, Ramila S., Rogers, Andrew V., Rutman, Andrew, Jackson, Claire L., Goggin, Patricia, Ollosson, Sarah, Carr, Siobhán, Walker, Woolf, Adler, Beryl, Loebinger, Michael R., Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Watson, Christopher M., Cullup, Thomas, Lucas, Jane S, Kenia, Priti, O’Callaghan, Christopher, King, Stephen M., Hogg, Claire, Mitchison, Hannah M.
Τόπος έκδοσης Thorax (2017)

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

ανά Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J., Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean- François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M.
Τόπος έκδοσης Nat Commun (2017)