Molecular Analysis of SALL1 Mutations in Townes-Brocks Syndrome
Kohlhase, Jürgen, Taschner, Peter E.M., Burfeind, Peter, Pasche, Bastian, Newman, Bill, Blanck, Christopher, Breuning, Martijn H., ten Kate, Leo P., Maaswinkel-Mooy, Petra, Mitulla, Beate, Seidel, Jörg, Kirkpatrick, Susan J., Pauli, Richard M., Wargowski, David S., Devriendt, Koen, Proesmans, Willem, Gabrielli, Orazio, Coppa, Giovanni V., Wesby–van Swaay, Eveline, Trembath, Richard C., Schinzel, Albert A., Reardon, William, Seemanova, Eva, Engel, Wolfgang
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Journal Article
NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis
Newman, Bill, Rubin, Laurence A, Siminovitch, Katherine A
Published in Journal of rheumatology (01.02.2003)
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Published in Journal of rheumatology (01.02.2003)
Journal Article
Matrix Gla protein is differentially expressed during the deposition of a calcified matrix by vascular pericytes
Canfield, Ann E., Doherty, Mary Jo, Kelly, Victoria, Newman, Bill, Farrington, Claire, Grant, Michael E., Boot-Handford, Raymond P.
Published in FEBS letters (29.12.2000)
Published in FEBS letters (29.12.2000)
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Journal Article
An LGR6 frameshift variant abrogates receptor expression on select leukocyte subsets and is associated with viral infections
Gomez, Esteban A., De Matteis, Roberta, Udomjarumanee, Palita, Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Asgar, Omar, Ashraf, Samina, Bidi, Saeed, Breen, Gerome, Broster, James, Chaudhary, Shabana, Chung, Raymond, Clinch, Megan, Collier, David, Colligan, Grainne, Curtis, Charles J., Deloukas, Panos, Durham, Ceri, Durrani, Faiza, Eto, Fabiola, Finer, Sarah, Gafton, Joseph, Angel Garcia, Ana Cristina, Griffiths, Chris, Harvey, Joanne, van Heel, David A., Heng, Teng, Hodgson, Sam, Huang, Qin Qin, Hurles, Matt, Hunt, Karen A, Hussain, Shapna, Islam, Kamrul, Iyer, Vivek, Jacobs, Benjamin M., Khan, Ahsan, Langenberg, Claudia, Lavery, Cath, Lee, Sang Hyuck, MacArthur, Daniel, Malik, Sidra, Malawsky, Daniel, Martin, Hilary, Mason, Dan, Mathur, Rohini, Mazid, Mohammed Bodrul, McDermott, John, Morton, Caroline, Newman, Bill, Owor, Elizabeth, Qureshi, Asma, Ramachandrappa, Shwetha, Raza, Mehru, Russell, Jessry, Safa, Nishat, Samuel, Miriam, Simpson, Michael, Solly, John, Spreckley, Marie, Stow, Daniel, Taylor, Michael, Trembath, Richard C., Tricker, Karen, Walter, Klaudia, Winckley, Caroline, Wood, Suzanne, Wright, John, Zengeya, Ishevanhu, Zöllner, Julia, Munroe, Patricia B., Dalli, Jesmond
Published in Blood (25.07.2024)
Published in Blood (25.07.2024)
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Temporal trends in the epidemiology of childhood severe visual impairment and blindness in the UK
Teoh, Lucinda J, Adams, Gill, Allen, Louise, Anderson, Christopher, Anwar, Samira, Ash, Isabel, Astagi, Majunath, Balu, Rajesh, Bassi, Zahabiyah, Bates, Adam, Belmour, Linda, Benzimra, James, Blaikie, Andrew, Bolton, Kate, Bos, Ewoud, Bowman, Richard, Bredow, Maria, Butcher, Jeremy, Cane, Clare, Chadwick, Cathryn, Charlton, Ruth, Choi, Jessy, Clifford, Luke, Cox, Rachel, Dattani, Mehul, Dean, Fiona, Devlin, Anita, Dhir, Luna, Doherty, Cora, Dorey, Suzanne, Eaton, Megan, Eckersley, Danielle, Great, Clive Edelsten, Elderkin, Rachel, Ennis, Julia, Escardo-Paton, Julia, Etuwewe, Onajite, Ezekwe, Adjoa, Ferguson, Allison, Galloway, Alexandra, Gibson, Patricia, Goss, Kevin, Graham-Evans, Katherine, Gray, Judith, Guy, Emma, Haddad, Diab, Harris, Sian, Harvey, Phillip, Heath, Dominic, Holden, Roger, Hoole, Janice, Howard, Delyth, Joseph, Annie, Khaw, Peng, Leitch, Jane, Lomas, Tom, MacRae, Mary, Mahmood, Usman, Maling, Sarah, Marr, Jane, Marsh, Catherine, McCartney, Eleanor, McPhee, Derek, Moore, Helen, Nair, Ranjit, Nitsch, Christiane, Palmer, Helen, Papadopoulos, Maria, Parkinson, Shelagh, Parulekar, Manoj, Pennefather, Philippa, Pierrepoint, Marcus, Pollard, Sally, Raina, Jyoti, Ramm, Laura, Rao, Tekki, Reilly, Sheilla, Riordan, Andrew, Roberts, Nerys, Sarvananthan, Nagini, Schmoll, Conrad, Smit, Elisa, Smyth, Katherine, Standring, P, Stanley, Alison, Stanton, Alan, Street, Jessica, Tappin, Alison, Taylor, Kate, Thomas, Megan, Thomson, Stephen, Tillett, Angela, Venkatesh, Udupa, Vermaak, Zoe, Walker, David, Walsh, Deidre, Walters, Bronwyn, Ward, Martin, Wong, Chien, Wright, Paul
Published in British journal of ophthalmology (01.05.2023)
Published in British journal of ophthalmology (01.05.2023)
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Journal Article
Significant variability in phenotype in an unusual family with attenuated MPS II (Hunter syndrome)
Finnigan, Niamh, Roberts, Jane, Breen, Catherine, Rust, Stewart, Hendriksz, Christian, Newman, Bill, Ashworth, Jane, Jones, Simon
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Health, education, and social care provision after diagnosis of childhood visual disability
Solebo, Ameenat Lola, Rahi, Jugnoo Sangeeta, Abdullah, Wajda, Adam, Gill, Ansell, Karen, Aslam, Sher, Astagi, Majunath, Ball, Colin, Balu, Rajesh, Bates, Adam, Batra, Dushyant, Blaikie, Andrew, Blundell, Michael, Bowman, Richard, Bradbury, John, Bredow, Maria, Bregu, Marsel, Kate, Alexandra, Butcher, Jeremy, Chadwick, Cathryn, Anne‐Marie, Choleva, Vivi, Churchill, Amanda, Clarke, Michael, Clifford, Luke, Victoria, Queen, Cresswell, Lyn, D’Amore, Angela, Drimmie, Fiona, Duke, Tina, Eaton, Megan, Edelsten, Clive, Fleck, Brian, Gainsborough, Mary, Gibbon, Caspar, Goss, Kevin, Gregory, Anna, Gulati, Arun, Haggerty, Helen, Hanna, Kerry, Harris, Sian, Heaton, Paul, Holden, Roger, Howard, Delyth, Jones, David, Keenan, Joseph, Khaw, Peng, Lawson, Joanna, Leitch, Jane, Lipshen, Gabi, Lomas, Tom, Long, Vernon, MacRae, Mary, Mahmood, Usman, Maling, Sarah, Markham, Richard, Marr, Jane, Marsh, Catherine, McCartney, Eleanor, McCullagh, Helen, Moore, Helen, Nair, Ranjit, Newman, Bill, Palmer, Helen, Papadopoulos, Maria, Parkinson, Shelagh, Pollard, Sally, Quinn, Anthony, Quinn, Philip, Rao, Tekki, Ray, Mary, Reilly, Sheilla, Robinson, Gillian, Saeed, Shakir, Salmon, Caroline, Sargent, Jenefer, Sarvananthan, Nagini, Shafiq, Ayad, Shah, Shilpa, Sharma, Vinod, Smit, Elisa, Smyth, Katherine, Stanga, Paulo, Stanley, Alison, Stanton, Alan, Stephen, John, Stewart, Catherine, Sutherland, Shona, Tappin, Alison, Taylor, Robert, Theodorou, Maria, Thomas, Paula, Thomson, Stephen, Vermaak, Zoe, Walsh, Deidre, Walters, Bronwyn, Ward, Martin, West, Stephanie, White, Joy, Wong, Chien
Published in Developmental medicine and child neurology (01.06.2023)
Published in Developmental medicine and child neurology (01.06.2023)
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Journal Article
The role of screening and surveillance in the detection of childhood vision impairment and blindness in the UK
Adams, Gill, Allen, Louise, Anderson, Christopher, Anwar, Samira, Ash, Isabel, Astagi, Majunath, Balu, Rajesh, Bassi, Zahabiyah, Bates, Adam, Batra, Dushyant, Belmour, Linda, Benzimra, James, Blaikie, Andrew, Bolton, Kate, Bos, Ewoud, Bowman, Richard, Bredow, Maria, Bunting, Howard, Butcher, Jeremy, Chadwick, Cathryn, Dattani, Mehul, Dhir, Luna, Doherty, Cora, Dorey, Suzanne, Eaton, Fiona, Eckersley, Danielle, Elderkin, Rachel, Ennis, Julia, Evans, Anthony, Ezekwe, Adjoa, Fairfield, Jenny, Falzon, Kevin, Ferguson, Allison, Galloway, Alexandra, Gerson-Sofer, Naomi, Guy, Emma, Haddad, Diab, Haigh, Paul, Hamada, Samer, Harrison, Christine, Heaton, Paul, Howells, Rachel, Irvine, Vanessa, Johnson, Nicola, Jollands, Alice, Joshi, Archana, Kandaswamy, Pugazhvendan, Keenan, Joseph, Kelly, Anne, Kotagiri, Ajay, Falkirk, Tim Lavy, Lawson, Joanna, Lee, Vicki, Lloyd, Chris, Lomas, Tom, Mackinnon, Jane, Maling, Sarah, Marder, Elizabeth, Markham, Richard, Maw, Anna, McCartney, Eleanor, McCullagh, Helen, McDonald, Anna, Miall, Lawrence, Nair, Ranjit, Newman, Bill, O'Connell, Katy, Parmar, Bina, Parulekar, Manoj, Parvathareddy, Madhavi, Patel, Himanshu, Pennefather, Philippa, Pierrepoint, Marcus, Pilling, Rachel, Pollard, Sally, Quinn, Philip, Ramm, Laura, Richardson, Greg, Riordan, Andrew, Rogers, Neil, Self, James, Shenoy, Manjula, Sleep, Tamsin, Smit, Elisa, Speedwell, Lynne, Stanga, Paulo, Stephen, John, Stewart, Catherine, Tappin, Alison, Teasdale, Katherine, Thomas, Paula, Thomson, Stephen, Thopte, Indrajit, Someren, Vivienne Van, Vermaak, Zoe, Ward, Martin, Watts, Patrick, Woodbridge, Tamsin, Wyles, Martha, Wylie, Philip
Published in Archives of disease in childhood (01.09.2022)
Published in Archives of disease in childhood (01.09.2022)
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Functional variants of OCTN cation transporter genes are associated with Crohn disease
Siminovitch, Katherine A, Peltekova, Vanya D, Wintle, Richard F, Rubin, Laurence A, Amos, Christopher I, Huang, Qiqing, Gu, Xiangjun, Newman, Bill, Oene, Mark Van, Cescon, David, Greenberg, Gordon, Griffiths, Anne M, St George-Hyslop, Peter H
Published in Nature genetics (01.05.2004)
Published in Nature genetics (01.05.2004)
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Journal Article
Visual impairment, severe visual impairment, and blindness in children in Britain (BCVIS2): a national observational study
Rahi, Jugnoo S, Adams, Gill, Allen, Louise, Anderson, Christopher, Anwar, Samira, Ash, Isabel, Astagi, Majunath, Balu, Rajesh, Bassi, Zahabiyah, Bates, Adam, Belmour, Linda, Benzimra, James, Blaikie, Andrew, Bolton, Kate, Bos, Ewoud, Bowman, Richard, Bredow, Maria, Butcher, Jeremy, Cane, Clare, Chadwick, Cathryn, Charlton, Ruth, Choi, Jessy, Clifford, Luke, Cox, Rachel, Dattani, Mehul, Dean, Fiona, Devlin, Anita, Dhir, Luna, Doherty, Cora, Dorey, Suzanne, Eaton, Megan, Eckersley, Danielle, Elderkin, Rachel, Ennis, Julia, Escardo-Paton, Julia, Etuwewe, Onajite, Ezekwe, Adjoa, Ferguson, Allison, Galloway, Alexandra, Gibson, Patricia, Goss, Kevin, Graham-Evans, Katherine, Gray, Judith, Guy, Emma, Haddad, Diab, Harris, Sian, Harvey, Phillip, Heath, Dominic, Holden, Roger, Hoole, Janice, Howard, Delyth, Joseph, Annie, Khaw, Peng, Leitch, Jane, Lomas, Tom, MacRae, Mary, Mahmood, Usman, Maling, Sarah, Marr, Jane, Marsh, Catherine, McCartney, Eleanor, McPhee, Derek, Moore, Helen, Nair, Ranjit, Nitsch, Christiane, Palmer, Helen, Papadopoulos, Maria, Parkinson, Shelagh, Parulekar, Manoj, Pennefather, Philippa, Pierrepoint, Marcus, Pollard, Sally, Raina, Jyoti, Ramm, Laura, Rao, Tekki, Reilly, Sheilla, Riordan, Andrew, Roberts, Nerys, Sarvananthan, Nagini, Schmoll, Conrad, Smit, Elisa, Smyth, Katherine, Standring, P, Stanley, Alison, Stanton, Alan, Street, Jessica, Tappin, Alison, Taylor, Kate, Thomas, Megan, Thompson, Dorothy, Thomson, Stephen, Tillett, Angela, Venkatesh, Udupa, Vermaak, Zoe, Walker, David, Walsh, Deidre, Walters, Bronwyn, Ward Platt, Martin, Wong, Chien, Wright, Paul
Published in The lancet child & adolescent health (01.03.2021)
Published in The lancet child & adolescent health (01.03.2021)
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A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn's disease
Newman, Bill, Gu, Xiangjun, Wintle, Richard, Cescon, David, Yazdanpanah, Mehrdad, Liu, Xiangdong, Peltekova, Vanya, Van Oene, Mark, Amos, Christopher I, Siminovitch, Katherine A
Published in Gastroenterology (New York, N.Y. 1943) (01.02.2005)
Published in Gastroenterology (New York, N.Y. 1943) (01.02.2005)
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PIK3R3 is a candidate regulator of platelet count in people of Bangladeshi ancestry
Burley, Kate, Fitzgibbon, Lucy, van Heel, David, Akhtar, Shaheen, Anwar, Mohammad, Arciero, Elena, Asgar, Omar, Ashraf, Samina, Breen, Gerome, Chung, Raymond, Curtis, Charles J., Chaudhary, Shabana, Chowdhury, Maharun, Colligan, Grainne, Deloukas, Panos, Durham, Ceri, Durrani, Faiza, Eto, Fabiola, Finer, Sarah, Garcia, Ana Angel, Griffiths, Chris, Harvey, Joanne, Heng, Teng, Huang, Qin Qin, Hurles, Matt, Hunt, Karen A., Hussain, Shapna, Islam, Kamrul, Jacobs, Ben, Khan, Ahsan, Khan, Amara, Lavery, Cath, Lee, Sang Hyuck, Lerner, Robin, MacArthur, Daniel, Malawsky, Daniel, Martin, Hilary, Mason, Dan, Mazid, Mohammed Bodrul, McDermott, John, McSweeney, Sanam, Miah, Shefa, Munir, Sabrina, Newman, Bill, Owor, Elizabeth, Qureshi, Asma, Rahman, Samiha, Safa, Nishat, Solly, John, Tahmasebi, Farah, Trembath, Richard C., Tricker, Karen, Uddin, Nasir, van Heel, David A., Winckley, Caroline, Wright, John, Vuckovic, Dragana, Mumford, Andrew D.
Published in Research and practice in thrombosis and haemostasis (01.05.2023)
Published in Research and practice in thrombosis and haemostasis (01.05.2023)
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Recent advances in the genetics of inflammatory bowel disease
Newman, Bill, Siminovitch, Katherine A
Published in Current opinion in gastroenterology (01.07.2005)
Published in Current opinion in gastroenterology (01.07.2005)
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Journal Article
CARD15 and HLA DRB1 Alleles Influence Susceptibility and Disease Localization in Crohn's Disease
Newman, Bill, Silverberg, Mark S, Gu, Xiangjun, Zhang, Qing, Lazaro, Ana, Steinhart, A Hillary, Greenberg, Gordon R, Griffiths, Anne M, McLeod, Robin S, Cohen, Zane, Fernández-Viña, Marcelo, Amos, Christopher I, Siminovitch, Katherine
Published in The American journal of gastroenterology (01.02.2004)
Published in The American journal of gastroenterology (01.02.2004)
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Eisenmenger syndrome and atrial septal defect: Nature or nurture?
Therrien, Judith, Rambihar, Sherryn, Newman, Bill, Siminovitch, Kathy, Langleben, David, Webb, Gary, Granton, John
Published in Canadian journal of cardiology (01.11.2006)
Published in Canadian journal of cardiology (01.11.2006)
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