11. DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies. Issue 6 (21st April 2015) Authors: Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Ørstavik, Karen Helene; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura; Zenker, Martin Journal: Human mutation Issue: Volume 36:Issue 6(2015:Jun.) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
12. 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) ↗
13. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia‐Strudwick type (SEMD‐S). (6th August 2015) Authors: Merrick, Blair; Calder, Alistair; Wakeling, Emma Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3103 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
14. Expanding the molecular basis and phenotypic spectrum of ZDHHC9‐associated X‐linked intellectual disability. Issue 5 (21st April 2018) Authors: Schirwani, Schaida; Wakeling, Emma; Smith, Kath; Balasubramanian, Meena Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1238 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
15. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Issue 2 (24th December 2021) Authors: Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Journal: Clinical dysmorphology Issue: Volume 31:Issue 2(2022) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
16. Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations. Issue 2 (5th December 2013) Authors: Vandersteen, Anthony M.; Lund, Allan M.; Ferguson, David J.P.; Sawle, Philip; Pollitt, Rebecca C.; Holder, Susan E.; Wakeling, Emma; Moat, Neil; Pope, F. Michael Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
17. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Issue 10 (14th August 2014) Authors: Ansari, Morad; Poke, Gemma; Ferry, Quentin; Williamson, Kathleen; Aldridge, Roland; Meynert, Alison M; Bengani, Hemant; Chan, Cheng Yee; Kayserili, Hülya; Avci, Şahin; Hennekam, Raoul C M; Lampe, Anne K; Redeker, Egbert; Homfray, Tessa; Ross, Alison; Falkenberg Smeland, Marie; Mansour, Sahar; Par... Journal: Journal of medical genetics Issue: Volume 51:Issue 10(2014) Page Start: 659 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
18. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability. Issue 1 (11th October 2017) Authors: Hamilton, Mark J; Caswell, Richard C; Canham, Natalie; Cole, Trevor; Firth, Helen V; Foulds, Nicola; Heimdal, Ketil; Hobson, Emma; Houge, Gunnar; Joss, Shelagh; Kumar, Dhavendra; Lampe, Anne Katrin; Maystadt, Isabelle; McKay, Victoria; Metcalfe, Kay; Newbury-Ecob, Ruth; Park, Soo-Mi; Robert, Leem... Journal: Journal of medical genetics Issue: Volume 55:Issue 1(2018) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
19. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. (January 2018) Authors: Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju; Nas... Journal: European journal of human genetics Issue: Volume 26:Number 1(2018) Page Start: 64 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
20. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Issue 1 (7th October 2020) Authors: Crow, Yanick J; Marshall, Heather; Rice, Gillian I; Seabra, Luis; Jenkinson, Emma M; Baranano, Kristin; Battini, Roberta; Berger, Andrea; Blair, Edward; Blauwblomme, Thomas; Bolduc, Francois; Boddaert, Natalie; Buckard, Johannes; Burnett, Heather; Calvert, Sophie; Caumes, Roseline; Ng, Andy Cheuk... Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗