Human pregnancy safety for agents used to treat rheumatoid arthritis: adequacy of available information and strategies for developing post-marketing data

por Chambers, Christina D, Tutuncu, Zuhre N, Johnson, Diana, Jones, Kenneth L
Publicado 2006

Time-Dependent Propensity Score for Assessing the Effect of Vaccine Exposure on Pregnancy Outcomes through Pregnancy Exposure Cohort Studies

por Xu, Ronghui, Luo, Yunjun, Glynn, Robert, Johnson, Diana, Jones, Kenneth L., Chambers, Christina
Publicado 2014

An Eye on Trafficking Genes: Identification of Four Eye Color Mutations in Drosophila

por Grant, Paaqua, Maga, Tara, Loshakov, Anna, Singhal, Rishi, Wali, Aminah, Nwankwo, Jennifer, Baron, Kaitlin, Johnson, Diana
Publicado 2016

The dynamic proliferation of CanSINEs mirrors the complex evolution of Feliforms

por Walters-Conte, Kathryn B, Johnson, Diana LE, Johnson, Warren E, O’Brien, Stephen J, Pecon-Slattery, Jill
Publicado 2014

A mutation creating an upstream initiation codon in the SOX9 5′ UTR causes acampomelic campomelic dysplasia

por von Bohlen, Anna E., Böhm, Johann, Pop, Ramona, Johnson, Diana S., Tolmie, John, Stücker, Ralf, Morris‐Rosendahl, Deborah, Scherer, Gerd
Publicado 2017

SARS-CoV-2-specific T cell responses and immune regulation in infected pregnant women

por Hsieh, Li-En, Grifoni, Alba, Dave, Hiral, Wang, Jasmine, Johnson, Diana, Zellner, Jennifer, Sidney, John, Chambers, Christina, Franco, Alessandra
Publicado 2022

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

por King, Daniel A., Fitzgerald, Tomas W., Miller, Ray, Canham, Natalie, Clayton-Smith, Jill, Johnson, Diana, Mansour, Sahar, Stewart, Fiona, Vasudevan, Pradeep, Hurles, Matthew E.
Publicado 2014

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

por Laskowski, Roman A., Tyagi, Nidhi, Johnson, Diana, Joss, Shelagh, Kinning, Esther, McWilliam, Catherine, Splitt, Miranda, Thornton, Janet M., Firth, Helen V., Wright, Caroline F.
Publicado 2016

MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide

por Reza, Mojgan, Cox, Daniel, Phillips, Lauren, Johnson, Diana, Manoharan, Vaishnavi, Grieves, Michael, Davis, Becky, Roos, Andreas, Morgan, Jennifer, Hanna, Michael G., Muntoni, Francesco, Lochmüller, Hanns
Publicado 2017

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

por Bowen, Jessica M., Hernandez, Monica, Johnson, Diana S., Green, Claire, Kammin, Tammy, Baker, Duncan, Keigwin, Sylvia, Makino, Seiko, Taylor, Naomi, Watson, Oliver, Wheeldon, Nigel M., Sobey, Glenda J.
Publicado 2023

Association between CYP2D6 Genotypes and the Risk of Antidepressant Discontinuation, Dosage Modification and the Occurrence of Maternal Depression during Pregnancy

por Bérard, Anick, Gaedigk, Andrea, Sheehy, Odile, Chambers, Christina, Roth, Mark, Bozzo, Pina, Johnson, Diana, Kao, Kelly, Lavigne, Sharon, Wolfe, Lori, Quinn, Dee, Dieter, Kristen, Zhao, Jin-Ping
Publicado 2017

Birth outcomes in women who have taken adalimumab in pregnancy: A prospective cohort study

por Chambers, Christina D., Johnson, Diana L., Xu, Ronghui, Luo, Yunjun, Lopez-Jimenez, Janina, Adam, Margaret P., Braddock, Stephen R., Robinson, Luther K., Vaux, Keith, Lyons Jones, Kenneth
Publicado 2019

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

por Czeschik, Johanna Christina, Bauer, Peter, Buiting, Karin, Dufke, Claudia, Guillén-Navarro, Encarna, Johnson, Diana S, Koehler, Udo, López-González, Vanesa, Lüdecke, Hermann-Josef, Male, Alison, Morrogh, Deborah, Rieß, Angelika, Tzschach, Andreas, Wieczorek, Dagmar, Kuechler, Alma
Publicado 2013

Oral characteristics in adult individuals with periodontal Ehlers‐Danlos syndrome

por Lepperdinger, Ulrike, Angwin, Chloe, Milnes, Di, Sobey, Glenda, Ghali, Neeti, Johnson, Diana, Brady, Angela F., Kammin, Tammy, Bowen, Jessica M., Gröbner, Rebekka, Lundberg, Pernilla, Scott, James, Zschocke, Johannes, van Dijk, Fleur S., Kapferer‐Seebacher, Ines
Publicado 2022

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

por Pagnamenta, Alistair T, Murakami, Yoshiko, Taylor, John M, Anzilotti, Consuelo, Howard, Malcolm F, Miller, Venessa, Johnson, Diana S, Tadros, Shereen, Mansour, Sahar, Temple, I Karen, Firth, Rachel, Rosser, Elisabeth, Harrison, Rachel E, Kerr, Bronwen, Popitsch, Niko, Kinoshita, Taroh, Taylor, Jenny C, Kini, Usha
Publicado 2017

Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families

por Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J., Davies, Sally J., Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E., Greenhalgh, Lynn, Holder, Susan E., Johnson, Diana, Kumar, Ajith, Ladda, Roger L., Sell, Susan, Begtrup, Amber, Lynch, Sally A., McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E.
Publicado 2023

Randomised controlled trial comparing the clinical and cost-effectiveness of various washout policies versus no washout policy in preventing catheter associated complications in ad...

por Abdel-fattah, Mohamed, Johnson, Diana, Constable, Lynda, Thomas, Ruth, Cotton, Seonaidh, Tripathee, Sheela, Cooper, David, Boran, Sue, Dimitropoulos, Konstantinos, Evans, Suzanne, Granitsiotis, Paraskeve, Hashim, Hashim, Kilonzo, Mary, Larcombe, James, Little, Paul, MacLennan, Sara, Murchie, Peter, Myint, Phyo Kyaw, N’Dow, James, Norrie, John, Omar, Muhammad Imran, Paterson, Catherine, Scotland, Graham, Thiruchelvam, Nikesh, MacLennan, Graeme
Publicado 2022

Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

por Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Publicado 2014

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the...

por Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M, Brady, Angela F, Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S, Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y, Morton, Jenny E V, Pilch, Jacek, Pollitt, Rebecca C, Schreiber, Gudrun, Shannon, Nora L, Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S, Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F Michael, Bönnemann, Carsten G, Rohrbach, Marianne
Publicado 2018

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

por Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Publicado 2018