1. Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. (7th January 2019) Authors: Loveday, Chey; Tatton-Brown, Katrina; Clarke, Matthew; Westwood, Isaac; Renwick, Anthony; Ramsay, Emma; Nemeth, Andrea; Campbell, Jennifer; Joss, Shelagh; Gardner, McKinlay; Zachariou, Anna; Elliott, Anna; Ruark, Elise; Montfort, Rob van; Rahman, Nazneen Journal: Human molecular genetics Issue: Volume 28:Number 9(2019) Page Start: 1578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. EED and EZH2 constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome. Issue 4 (21st February 2019) Authors: Griffiths, Sara; Loveday, Chey; Zachariou, Anna; Behan, Lucy‐Ann; Chandler, Kate; Cole, Trevor; D'Arrigo, Stefano; Dieckmann, Andrea; Foster, Alison; Gibney, James; Hunter, Matthew; Milani, Donatella; Pantaleoni, Chiara; Roche, Edna; Sherlock, Mark; Springer, Amanda; White, Susan M.; Tatton‐Brown... Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 588 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study. Issue 8 (August 2020) Authors: Sud, Amit; Torr, Bethany; Jones, Michael E; Broggio, John; Scott, Stephen; Loveday, Chey; Garrett, Alice; Gronthoud, Firza; Nicol, David L; Jhanji, Shaman; Boyce, Stephen A; Williams, Matthew; Riboli, Elio; Muller, David C; Kipps, Emma; Larkin, James; Navani, Neal; Swanton, Charles; Lyratzopoulos... Journal: Lancet oncology Issue: Volume 21:Issue 8(2020) Page Start: 1035 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Issue 10 (9th August 2019) Authors: Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L.; Amor, David J.; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay‐Son, Guillermo; Lees, Melissa; Low, Karen; ... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients. Issue 4 (12th November 2019) Authors: Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Baralle, Diana; Blair, Edward; Douzgou, Sofia; Field, Michael; Foster, Alison; Kyle, Claire; Lachlan, Katherine; Mansour, Sahar; Naik, Swati; Rea, Gillian; Smithson, Sarah; Sznajer, Yves; Thompson, Elizabeth; Cole, Trevor; Tatton‐Brown, Katrina Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 638 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D. (28th February 2020) Authors: Yang, Xin; Song, Honglin; Leslie, Goska; Engel, Christoph; Hahnen, Eric; Auber, Bernd; Horváth, Judit; Kast, Karin; Niederacher, Dieter; Turnbull, Clare; Houlston, Richard; Hanson, Helen; Loveday, Chey; Dolinsky, Jill S; LaDuca, Holly; Ramus, Susan J; Menon, Usha; Rosenthal, Adam N; Jacobs, Ian; ... Journal: Journal of the National Cancer Institute Issue: Volume 112:Number 12(2020) Page Start: 1242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prioritisation by FIT to mitigate the impact of delays in the 2-week wait colorectal cancer referral pathway during the COVID-19 pandemic: a UK modelling study. Issue 6 (27th August 2020) Authors: Loveday, Chey; Sud, Amit; Jones, Michael E; Broggio, John; Scott, Stephen; Gronthound, Firza; Torr, Beth; Garrett, Alice; Nicol, David L; Jhanji, Shaman; Boyce, Stephen A; Williams, Matthew; Barry, Claire; Riboli, Elio; Kipps, Emma; McFerran, Ethna; Muller, David C; Lyratzopoulos, Georgios; Lawle... Journal: Gut Issue: Volume 70:Issue 6(2021) Page Start: 1053 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients. Issue 4 (13th November 2019) Authors: Ostrowski, Philip J.; Zachariou, Anna; Loveday, Chey; Beleza‐Meireles, Ana; Bertoli, Marta; Dean, John; Douglas, Andrew G. L.; Ellis, Ian; Foster, Alison; Graham, John M.; Hague, Jennifer; Hilhorst‐Hofstee, Yvonne; Hoffer, Mariette; Johnson, Diana; Josifova, Dragana; Kant, Sarina G.; Kini, Usha; ... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Issue 4 (3rd September 2019) Authors: Foster, Alison; Zachariou, Anna; Loveday, Chey; Ashraf, Tazeen; Blair, Edward; Clayton‐Smith, Jill; Dorkins, Huw; Fryer, Alan; Gener, Blanca; Goudie, David; Henderson, Alex; Irving, Melita; Joss, Shelagh; Keeley, Vaughan; Lahiri, Nayana; Lynch, Sally Ann; Mansour, Sahar; McCann, Emma; Morton, Jen... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗