1. 30 Rapid trio whole exome sequencing (R14) of an undiagnosed child, in the context of a new pregnancy. (15th December 2021) Authors: Koutsogianni, Maria; Wakeling, Emma; Male, Alison; Stals, Karen; Ashraf, Tazeen Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A hypomorphic allele of SLC35D1 results in Schneckenbecken-like dysplasia. (19th August 2019) Authors: Rautengarten, Carsten; Quarrell, Oliver W; Stals, Karen; Caswell, Richard C; De Franco, Elisa; Baple, Emma; Burgess, Nadia; Jokhi, Roobin; Heazlewood, Joshua L; Offiah, Amaka C; Ebert, Berit; Ellard, Sian Journal: Human molecular genetics Issue: Volume 28:Number 21(2019) Page Start: 3543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans. Issue 3 (9th April 2022) Authors: Guimier, Anne; de Pontual, Loïc; Braddock, Stephen R; Torti, Erin; Pérez-Jurado, Luis A; Muñoz-Cabello, Patricia; Arumí, Montserrat; Monaghan, Kristin G; Lee, Hane; Wang, Lee-kai; Pluym, Ilina D; Lynch, Sally Ann; Stals, Karen; Ellard, Sian; Muller, Cécile; Houyel, Lucile; Cohen, Laurence; Lyonne... Journal: Human molecular genetics Issue: Volume 32:Issue 3(2023) Page Start: 353 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Issue 3 (9th September 2021) Authors: Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarr... Journal: Human molecular genetics Issue: Volume 31:Issue 3(2022) Page Start: 440 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder. Issue 12 (10th August 2022) Authors: Janssen, Beau D. E.; van den Boogaard, Marie‐Jose H.; Lichtenbelt, Klaske; Seaby, Eleanor G.; Stals, Karen; Ellard, Sian; Newbury‐Ecob, Ruth; Dixit, Abhijit; Roht, Laura; Pajusalu, Sander; Õunap, Katrin; Firth, Helen V.; Buckley, Michael; Wilson, Meredith; Roscioli, Tony; Tidwell, Timothy; Mao, R... Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 1844 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Dominant and recessive SLC12A2‐syndrome. Issue 3 (19th November 2021) Authors: McNeill, Alisdair; Aurora, Paul; Rajput, Kaukab; Nash, Robert; Stals, Karen; Robinson, Hannah; Wakeling, Emma Journal: American journal of medical genetics Issue: Volume 188:Issue 3(2022) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model. Issue 6 (18th September 2022) Authors: Sanchez Marco, Silvia Beatriz; Buhl, Edgar; Firth, Rose; Zhu, Bangfu; Gainsborough, Mary; Beleza‐Meireles, Ana; Moore, Sandra; Caswell, Richard; Stals, Karen; Ellard, Sian; Kennedy, Cameron; Hodge, James J. L.; Majumdar, Anirban Journal: Clinical genetics Issue: Volume 102:Issue 6(2022) Page Start: 494 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Issue 3 (September 2017) Authors: Salvatori, Roberto; Radian, Serban; Diekmann, Yoan; Iacovazzo, Donato; David, Alessia; Gabrovska, Plamena; Grassi, Giorgia; Bussell, Anna-Marie; Stals, Karen; Weber, Astrid; Quinton, Richard; Crowne, Elizabeth C; Corazzini, Valentina; Metherell, Lou; Kearney, Tara; Du Plessis, Daniel; Sinha, Ajay... Journal: European journal of endocrinology Issue: Volume 177:Issue 3(2017) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland. Issue 1 (4th October 2016) Authors: Radian, Serban; Diekmann, Yoan; Gabrovska, Plamena; Holland, Brendan; Bradley, Lisa; Wallace, Helen; Stals, Karen; Bussell, Anna‐Marie; McGurren, Karen; Cuesta, Martin; Ryan, Anthony W.; Herincs, Maria; Hernández‐Ramírez, Laura C.; Holland, Aidan; Samuels, Jade; Aflorei, Elena Daniela; Barry, Say... Journal: Human mutation Issue: Volume 38:Issue 1(2017) Page Start: 78 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Risk category system to identify pituitary adenoma patients with AIP mutations. Issue 4 (10th February 2018) Authors: Caimari, Francisca; Hernández-Ramírez, Laura Cristina; Dang, Mary N; Gabrovska, Plamena; Iacovazzo, Donato; Stals, Karen; Ellard, Sian; Korbonits, Márta Journal: Journal of medical genetics Issue: Volume 55:Issue 4(2018) Page Start: 254 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗