Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis
Gordon, Kristiana, Varney, Ruth, Keeley, Vaughan, Riches, Katie, Jeffery, Steve, Van Zanten, Malou, Mortimer, Peter, Ostergaard, Pia, Mansour, Sahar
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
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Journal Article
Matrix stiffness controls lymphatic vessel formation through regulation of a GATA2-dependent transcriptional program
Frye, Maike, Taddei, Andrea, Dierkes, Cathrin, Martinez-Corral, Ines, Fielden, Matthew, Ortsäter, Henrik, Kazenwadel, Jan, Calado, Dinis P., Ostergaard, Pia, Salminen, Marjo, He, Liqun, Harvey, Natasha L., Kiefer, Friedemann, Mäkinen, Taija
Published in Nature communications (17.04.2018)
Published in Nature communications (17.04.2018)
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Journal Article
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Published in Nature medicine (01.03.2023)
Published in Nature medicine (01.03.2023)
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EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis
Martin-Almedina, Silvia, Martinez-Corral, Ines, Holdhus, Rita, Vicente, Andres, Fotiou, Elisavet, Lin, Shin, Petersen, Kjell, Simpson, Michael A, Hoischen, Alexander, Gilissen, Christian, Jeffery, Heather, Atton, Giles, Karapouliou, Christina, Brice, Glen, Gordon, Kristiana, Wiseman, John W, Wedin, Marianne, Rockson, Stanley G, Jeffery, Steve, Mortimer, Peter S, Snyder, Michael P, Berland, Siren, Mansour, Sahar, Makinen, Taija, Ostergaard, Pia
Published in The Journal of clinical investigation (01.08.2016)
Published in The Journal of clinical investigation (01.08.2016)
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Journal Article
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort
Grigoriadis, Dionysios, Sackey, Ege, Riches, Katie, van Zanten, Malou, Brice, Glen, England, Ruth, Mills, Mike, Dobbins, Sara E, Lee, Li Ling, Jeffery, Steve, Dong, Liang, Savage, David B, Mortimer, Peter S, Keeley, Vaughan, Pittman, Alan, Gordon, Kristiana, Ostergaard, Pia
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
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Journal Article
Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E. Dobbins, Li Ling Lee, Steve Jeffery, Liang Dong, David B. Savage, Peter S. Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Published in PloS one (13.10.2022)
Published in PloS one (13.10.2022)
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Journal Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Nature communications (26.04.2019)
Published in Nature communications (26.04.2019)
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Journal Article
Human venous valve disease caused by mutations in FOXC2 and GJC2
Lyons, Oliver, Saha, Prakash, Seet, Christopher, Kuchta, Adam, Arnold, Andrew, Grover, Steven, Rashbrook, Victoria, Sabine, Amélie, Vizcay-Barrena, Gema, Patel, Ash, Ludwinski, Francesca, Padayachee, Soundrie, Kume, Tsutomu, Kwak, Brenda R, Brice, Glen, Mansour, Sahar, Ostergaard, Pia, Mortimer, Peter, Jeffery, Steve, Brown, Nigel, Makinen, Taija, Petrova, Tatiana V, Modarai, Bijan, Smith, Alberto
Published in The Journal of experimental medicine (07.08.2017)
Published in The Journal of experimental medicine (07.08.2017)
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Journal Article
Profound and selective lymphopaenia in primary lymphatic anomaly patients demonstrates the significance of lymphatic-lymphocyte interactions
Pearce, Julian, Hadcocks, Linda, Mansour, Sahar, van Zanten, Malou, Jeffery, Steve, Gordon, Kristiana, Ostergaard, Pia, Mortimer, Peter, Macallan, Derek C
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Journal Article
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma
Waseem, Naushin H, Low, Sancy, Shah, Amna Z, Avisetti, Deepa, Ostergaard, Pia, Simpson, Michael, Niemiec, Katarzyna A, Martin-Martin, Belen, Aldehlawi, Hebah, Usman, Saima, Lee, Pak Sang, Khawaja, Anthony P, Ruddle, Jonathan B, Shah, Ameet, Sackey, Ege, Day, Alexander, Jiang, Yuzhen, Swinfield, Geoff, Viswanathan, Ananth, Alfano, Giovanna, Chakarova, Christina, Cordell, Heather J, Garway-Heath, David F, Khaw, Peng T, Bhattacharya, Shomi S, Waseem, Ahmad, Foster, Paul J
Published in PLoS genetics (01.04.2020)
Published in PLoS genetics (01.04.2020)
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Journal Article
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Journal Article
A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon
Nadarajah, Noeline, Schulte, Dörte, McConnell, Vivienne, Martin-Almedina, Silvia, Karapouliou, Christina, Mortimer, Peter S, Jeffery, Steve, Schulte-Merker, Stefan, Gordon, Kristiana, Mansour, Sahar, Ostergaard, Pia
Published in International journal of molecular sciences (01.08.2018)
Published in International journal of molecular sciences (01.08.2018)
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Journal Article
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes
Martin-Almedina, Silvia, Ogmen, Kazim, Sackey, Ege, Grigoriadis, Dionysios, Karapouliou, Christina, Nadarajah, Noeline, Ebbing, Cathrine, Lord, Jenny, Mellis, Rhiannon, Kortuem, Fanny, Dinulos, Mary Beth, Polun, Cassandra, Bale, Sherri, Atton, Giles, Robinson, Alexandra, Reigstad, Hallvard, Houge, Gunnar, von der Wense, Axel, Becker, Wolf-Henning, Jeffery, Steve, Mortimer, Peter S., Gordon, Kristiana, Josephs, Katherine S., Robart, Sarah, Kilby, Mark D., Vallee, Stephanie, Gorski, Jerome L., Hempel, Maja, Berland, Siren, Mansour, Sahar, Ostergaard, Pia
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
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Journal Article
Erythematous capillary-lymphatic malformations mimicking blood vascular anomalies
Hägerling, René, Van Zanten, Malou, Behncke, Rose Yinghan, Ulferts, Sascha, Hansmeier, Nils R, Märkl, Bruno, Witzel, Christian, Ho, Bernard, Keeley, Vaughan, Riches, Katie, Mansour, Sahar, Gordon, Kristiana, Ostergaard, Pia, Mortimer, Peter S
Published in JCI insight (23.10.2023)
Published in JCI insight (23.10.2023)
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Journal Article
Mutations in EPHB4 cause human venous valve aplasia
Lyons, Oliver, Walker, James, Seet, Christopher, Ikram, Mohammed, Kuchta, Adam, Arnold, Andrew, Hernández-Vásquez, Magda, Frye, Maike, Vizcay-Barrena, Gema, Fleck, Roland A, Patel, Ashish S, Padayachee, Soundrie, Mortimer, Peter, Jeffery, Steve, Berland, Siren, Mansour, Sahar, Ostergaard, Pia, Makinen, Taija, Modarai, Bijan, Saha, Prakash, Smith, Alberto
Published in JCI insight (22.09.2021)
Published in JCI insight (22.09.2021)
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Journal Article
Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?
Martin‐Almedina, Silvia, Mansour, Sahar, Ostergaard, Pia
Published in The Journal of physiology (15.03.2018)
Published in The Journal of physiology (15.03.2018)
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Journal Article
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis
Fotiou, Elisavet, Martin-Almedina, Silvia, Simpson, Michael A., Lin, Shin, Gordon, Kristiana, Brice, Glen, Atton, Giles, Jeffery, Iona, Rees, David C., Mignot, Cyril, Vogt, Julie, Homfray, Tessa, Snyder, Michael P., Rockson, Stanley G., Jeffery, Steve, Mortimer, Peter S., Mansour, Sahar, Ostergaard, Pia
Published in Nature communications (03.09.2015)
Published in Nature communications (03.09.2015)
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Journal Article
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome
Joyce, Sarah, Gordon, Kristiana, Brice, Glen, Ostergaard, Pia, Nagaraja, Rani, Short, John, Moore, Sandra, Mortimer, Peter, Mansour, Sahar
Published in European journal of human genetics : EJHG (01.05.2016)
Published in European journal of human genetics : EJHG (01.05.2016)
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