1. Fetal hydrops – a review and a clinical approach to identifying the cause. (3rd March 2020) Authors: Dempsey, Esther; Homfray, Tessa; Simpson, John M; Jeffery, Steve; Mansour, Sahar; Ostergaard, Pia Journal: Expert opinion on orphan drugs Issue: Volume 8:Number 2/3(2020) Page Start: 51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. FLT4/VEGFR3 and Milroy Disease: Novel Mutations, a Review of Published Variants and Database Update. Issue 1 (16th October 2012) Authors: Gordon, Kristiana; Spiden, Sarah L.; Connell, Fiona C.; Brice, Glen; Cottrell, Sally; Short, John; Taylor, Rohan; Jeffery, Steve; Mortimer, Peter S.; Mansour, Sahar; Ostergaard, Pia Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?. (31st January 2018) Authors: Martin‐Almedina, Silvia; Mansour, Sahar; Ostergaard, Pia Journal: Journal of physiology Issue: Volume 596:Number 6(2018) Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11. (21st May 2015) Authors: Balikova, Irina; Robson, Anthony G.; Holder, Graham E.; Ostergaard, Pia; Mansour, Sahar; Moore, Anthony T. Journal: Acta ophthalmologica Issue: Volume 94:Number 1(2016) Page Start: 92 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. Issue 4 (25th January 2011) Authors: Ostergaard, Pia; Simpson, Michael A; Brice, Glen; Mansour, Sahar; Connell, Fiona C; Onoufriadis, Alexandros; Child, Anne H; Hwang, Jae; Kalidas, Kamini; Mortimer, Peter S; Trembath, Richard; Jeffery, Steve Journal: Journal of medical genetics Issue: Volume 48:Issue 4(2011) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts. Issue 1 (16th December 2021) Authors: Mansour, Sahar; Josephs, Katherine S; Ostergaard, Pia; Gordon, Kristiana; Van Zanten, Malou; Pearce, Julian; Jeffery, Steve; Keeley, Vaughan; Riches, Katie; Kreuter, Alexander; Wieland, Ulrike; Hägerling, René; Ratnam, Lakshmi; Sackey, Ege; Grigoriadis, Dionysios; Ho, Bernard; Smith, Frances; Rau... Journal: Journal of medical genetics Issue: Volume 60:Issue 1(2023) Page Start: 84 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Systematic Review of Magnetic Resonance Lymphangiography From a Technical Perspective. Issue 6 (24th February 2021) Authors: Mills, Michael; van Zanten, Malou; Borri, Marco; Mortimer, Peter S.; Gordon, Kristiana; Ostergaard, Pia; Howe, Franklyn A. Journal: Journal of magnetic resonance imaging Issue: Volume 53:Issue 6(2021) Page Start: 1766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases. Issue 8 (17th October 2020) Authors: Monaghan, Richard M; Page, Donna J; Ostergaard, Pia; Keavney, Bernard D Journal: Cardiovascular research Issue: Volume 117:Issue 8(2021) Page Start: 1877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Update and audit of the St George's classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis. Issue 10 (14th May 2020) Authors: Gordon, Kristiana; Varney, Ruth; Keeley, Vaughan; Riches, Katie; Jeffery, Steve; Van Zanten, Malou; Mortimer, Peter; Ostergaard, Pia; Mansour, Sahar Journal: Journal of medical genetics Issue: Volume 57:Issue 10(2020) Page Start: 653 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗