Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.03.2013)
Published in Nature genetics (01.03.2013)
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Diagnostic value of exome and whole genome sequencing in craniosynostosis
Miller, Kerry A, Twigg, Stephen R F, McGowan, Simon J, Phipps, Julie M, Fenwick, Aimée L, Johnson, David, Wall, Steven A, Noons, Peter, Rees, Katie E M, Tidey, Elizabeth A, Craft, Judith, Taylor, John, Taylor, Jenny C, Goos, Jacqueline A C, Swagemakers, Sigrid M A, Mathijssen, Irene M J, van der Spek, Peter J, Lord, Helen, Lester, Tracy, Abid, Noina, Cilliers, Deirdre, Hurst, Jane A, Morton, Jenny E V, Sweeney, Elizabeth, Weber, Astrid, Wilson, Louise C, Wilkie, Andrew O M
Published in Journal of medical genetics (01.04.2017)
Published in Journal of medical genetics (01.04.2017)
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Journal Article
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M A, Koelling, Nils, McGowan, Simon J, Phipps, Julie M, Balasubramanian, Meena, Cunningham, Michael L, Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E V, Shears, Deborah, Weber, Astrid, Wilson, Louise C, Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A, Twigg, Stephen R F, Mathijssen, Irene M J, Boardman-Pretty, Freya, Boyadjiev, Simeon A, Wilkie, Andrew O M
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis
Walton, Isaac S, McCann, Emma, Weber, Astrid, Morton, Jenny E V, Noons, Peter, Wilson, Louise C, Ching, Rosanna C, Cilliers, Deirdre, Johnson, David, Phipps, Julie M, Shears, Deborah J, Thomas, Gregory P L, Wall, Steven A, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Journal of anatomy (17.05.2024)
Published in Journal of anatomy (17.05.2024)
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance
Tooze, Rebecca S., Miller, Kerry A., Swagemakers, Sigrid M.A., Calpena, Eduardo, McGowan, Simon J., Boute, Odile, Collet, Corinne, Johnson, David, Laffargue, Fanny, de Leeuw, Nicole, Morton, Jenny V., Noons, Peter, Ockeloen, Charlotte W., Phipps, Julie M., Tan, Tiong Yang, Timberlake, Andrew T., Vanlerberghe, Clemence, Wall, Steven A., Weber, Astrid, Wilson, Louise C., Zackai, Elaine H., Mathijssen, Irene M.J., Twigg, Stephen R.F., Wilkie, Andrew O.M.
Published in Genetics in Medicine Open (01.09.2023)
Published in Genetics in Medicine Open (01.09.2023)
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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation
Calpena, Eduardo, Cuellar, Araceli, Bala, Krithi, Swagemakers, Sigrid M A, Koelling, Nils, McGowan, Simon J, Phipps, Julie M, Balasubramanian, Meena, Cunningham, Michael L, Douzgou, Sofia, Lattanzi, Wanda, Morton, Jenny E V, Shears, Deborah, Weber, Astrid, Wilson, Louise C, Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A, Twigg, Stephen R F, Mathijssen, Irene M J, Boardman-Pretty, Freya, Boyadjiev, Simeon A, Wilkie, Andrew O M
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Journal Article
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimee L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (01.10.2013)
Published in Nature genetics (01.10.2013)
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Journal Article
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders
Faundes, Víctor, Demos, Michelle K., Goldman, Amy, Lehman, Anna, McKee, Shane, Morton, Jenny, Rankin, Julia, Temple, I. Karen, Adam, Shelin, van Karnebeek, Clara, Aitken, Stuart, Alvi, Mohsan, Ambridge, Kirsty, Jones, Philip, Jones, Wendy D., Mason, Laura E., Tivey, Adrian R., Ahmed, Munaza, Balasubramanian, Meena, Barnicoat, Angela, Bitner-Glindzicz, Maria, Bourdon, Louise, Bradley, Lisa, Burn, John, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Crow, Yanick, Dabir, Tabib, Davidson, Rosemarie, de Vries, Dylan, Deshpande, Charu, Dixit, Abhijit, Dobbie, Angus, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Flinter, Frances, Foulds, Nicola, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Greene, Philip, Gribble, Susan, Holder, Muriel, Hollingsworth, Georgina, Ingram, Stuart, Jenkins, Lucy, Joss, Shelagh, Kerr, Bronwyn, Kini, Usha, Kraus, Alison, Lachlan, Katherine, Marks, Karen, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, Middleton, Anna, Mohammed, Shehla, O’Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Prescott, Katrina, Procter, Annie, Purnell, Hellen, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Samant, Shalaka, Selby, Ann, Sequeira, Cheryl, Shears, Debbie, Smith, Audrey, Smith, Kath, Splitt, Miranda, Squires, Miranda, Tomkins, Susan, Treacy, Becky, Tysoe, Carolyn, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Whiteford, Margo, Wilcox, Sarah, Wilkinson, Emily, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R.
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Altered Repertoire Diversity and Disease‐Associated Clonal Expansions Revealed by T Cell Receptor Immunosequencing in Ankylosing Spondylitis Patients
Hanson, Aimee L., Nel, Hendrik J., Bradbury, Linda, Phipps, Julie, Thomas, Ranjeny, Lê Cao, Kim‐Anh, Kenna, Tony J., Brown, Matthew A.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2020)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.08.2020)
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Gut Microbiome Changes Are Different Between Ankylosing Spondylitis and Inflammatory Bowel Disease, and Correlate with Disease Activity in Both Diseases
Sternes, Peter, Brett, Laurel, Phipps, Julie, Ciccia, Francesco, de Guzman, Erika, Morrison, Mark, Holtmann, Gerald, Klingberg, Eva, McIvor, Carolyn, Forsblad-d'Elia, Helena, Brown, Matthew
Published in Arthritis & rheumatology (Hoboken, N.J.) (2020)
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Published in Arthritis & rheumatology (Hoboken, N.J.) (2020)
Journal Article
SMAD6 variants incraniosynostosis: genotype and phenotype evaluation
Calpena Eduardo, Cuellar Araceli, Bala Krithi, Swagemakers Sigrid M A, Koelling Nils, McGowan, Simon J, Phipps, Julie M, Balasubramanian Meena, Cunningham, Michael L, Douzgou Sofia, Lattanzi Wanda, Morton, Jenny E, Shears, Deborah, Weber, Astrid, Wilson, Louise C, Lord, Helen, Lester, Tracy, Johnson, David, Wall, Steven A, Twigg Stephen R F, Mathijssen Irene M J, Boardman-Pretty Freya, Boardman-Pretty, F, Boyadjiev, Simeon A, Wilkie Andrew O M
Published in Genetics in medicine (01.09.2020)
Published in Genetics in medicine (01.09.2020)
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Toward a New Paradigm: Goal‐based Residency Training
Tintinalli, Judith E., Shofer, Francis, Biese, Kevin, Phipps, Julie, Rabinovich, Sergio
Published in Academic emergency medicine (01.10.2011)
Published in Academic emergency medicine (01.10.2011)
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Erratum: Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline A C, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Nu Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene M J, Maxson, Robert E, Twigg, Stephen R F, Wilkie, Andrew O M
Published in Nature genetics (26.09.2013)
Published in Nature genetics (26.09.2013)
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Journal Article
Use of a Clinical Decision Support Tool to improve guideline adherence for the treatment of methicillin-resistant Staphylococcus aureus: Skin and Soft Tissue Infections
Carman, Margaret Jean, Phipps, Julie, Raley, Jennifer, Li, Suling, Thornlow, Deirdre
Published in Advanced emergency nursing journal (01.07.2011)
Published in Advanced emergency nursing journal (01.07.2011)
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Journal Article
Mutations of TCF12 , encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis
Sharma, Vikram P, Fenwick, Aimée L, Brockop, Mia S, McGowan, Simon J, Goos, Jacqueline AC, Hoogeboom, A Jeannette M, Brady, Angela F, Jeelani, Owase, Lynch, Sally Ann, Mulliken, John B, Murray, Dylan J, Phipps, Julie M, Sweeney, Elizabeth, Tomkins, Susan E, Wilson, Louise C, Bennett, Sophia, Cornall, Richard J, Broxholme, John, Kanapin, Alexander, Donnelly, Peter, Johnson, David, Wall, Steven A, van der Spek, Peter J, Mathijssen, Irene MJ, Maxson, Robert E, Twigg, Stephen RF, Wilkie, Andrew OM, Prof
Published in The Lancet (British edition) (27.02.2013)
Published in The Lancet (British edition) (27.02.2013)
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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis
Justice, Cristina M., Cuellar, Araceli, Bala, Krithi, Sabourin, Jeremy A., Cunningham, Michael L., Crawford, Karen, Phipps, Julie M., Zhou, Yan, Cilliers, Deirdre, Byren, Jo C., Johnson, David, Wall, Steven A., Morton, Jenny E. V., Noons, Peter, Sweeney, Elizabeth, Weber, Astrid, Rees, Katie E. M., Wilson, Louise C., Simeonov, Emil, Kaneva, Radka, Yaneva, Nadezhda, Georgiev, Kiril, Bussarsky, Assen, Senders, Craig, Zwienenberg, Marike, Boggan, James, Roscioli, Tony, Tamburrini, Gianpiero, Barba, Marta, Conway, Kristin, Sheffield, Val C., Brody, Lawrence, Mills, James L., Kay, Denise, Sicko, Robert J., Langlois, Peter H., Tittle, Rachel K., Botto, Lorenzo D., Jenkins, Mary M., LaSalle, Janine M., Lattanzi, Wanda, Wilkie, Andrew O. M., Wilson, Alexander F., Romitti, Paul A., Boyadjiev, Simeon A.
Published in Human genetics (01.08.2020)
Published in Human genetics (01.08.2020)
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Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits
Nicoletti, Paola, Zafer, Samreen, Matok, Lital, Irron, Inbar, Patrick, Meidva, Haklai, Rotem, Evangelista, John Erol, Marino, Giacomo B., Ma’ayan, Avi, Sewda, Anshuman, Holmes, Greg, Britton, Sierra R., Lee, Won Jun, Wu, Meng, Ru, Ying, Arnaud, Eric, Botto, Lorenzo, Brody, Lawrence C., Byren, Jo C., Caggana, Michele, Carmichael, Suzan L., Cilliers, Deirdre, Conway, Kristin, Crawford, Karen, Cuellar, Araceli, Di Rocco, Federico, Engel, Michael, Fearon, Jeffrey, Feldkamp, Marcia L., Finnell, Richard, Fisher, Sarah, Freudlsperger, Christian, Garcia-Fructuoso, Gemma, Hagge, Rhinda, Heuzé, Yann, Harshbarger, Raymond J., Hobbs, Charlotte, Howley, Meredith, Jenkins, Mary M., Johnson, David, Justice, Cristina M., Kane, Alex, Kay, Denise, Gosain, Arun Kumar, Langlois, Peter, Legal-Mallet, Laurence, Lin, Angela E., Mills, James L., Morton, Jenny E.V., Noons, Peter, Olshan, Andrew, Persing, John, Phipps, Julie M., Redett, Richard, Reefhuis, Jennita, Rizk, Elias, Samson, Thomas D., Shaw, Gary M., Sicko, Robert, Smith, Nataliya, Staffenberg, David, Stoler, Joan, Sweeney, Elizabeth, Taub, Peter J., Timberlake, Andrew T., Topczewska, Jolanta, Wall, Steven A., Wilson, Alexander F., Wilson, Louise C., Boyadjiev, Simeon A., Wilkie, Andrew O.M., Richtsmeier, Joan T., Jabs, Ethylin Wang, Romitti, Paul A., Karasik, David, Birnbaum, Ramon Y., Peter, Inga
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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