1. A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Issue 6 (1st April 2020) Authors: Aagaard Nolting, Line; Brasch‐Andersen, Charlotte; Cox, Helen; Kanani, Farah; Parker, Michael; Fry, Andrew E.; Loddo, Sara; Novelli, Antonio; Dentici, Maria Lisa; Joss, Shelagh; Jørgensen, Joan P.; Fagerberg, Christina R. Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 927 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype. Issue 7 (16th July 2018) Authors: Balak, Chris; Belnap, Newell; Ramsey, Keri; Joss, Shelagh; Devriendt, Koen; Naymik, Marcus; Jepsen, Wayne; Siniard, Ashley L.; Szelinger, Szabolcs; Parker, Mary E.; Richholt, Ryan; Izatt, Tyler; LaFleur, Madison; Terraf, Panieh; Llaci, Lorida; De Both, Matt; Piras, Ignazio S.; Rangasamy, Sampathk... Journal: American journal of medical genetics Issue: Volume 176:Issue 7(2018) Page Start: 1549 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromosomal microarray analysis for looked after children: a double-edged sword?. Issue 2 (26th September 2014) Authors: Hamilton, Mark James; Tolmie, John Lorimer; Joss, Shelagh; Morrison, Norma; Suhaimi, Nur Mohd Journal: Archives of disease in childhood Issue: Volume 100:Issue 2(2015) Page Start: 206 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016) Authors: Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. De Novo Truncating Mutations in the Kinetochore‐Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability. Issue 4 (4th February 2016) Authors: Isidor, Bertrand; Küry, Sébastien; Rosenfeld, Jill A.; Besnard, Thomas; Schmitt, Sébastien; Joss, Shelagh; Davies, Sally J; Roger Lebel, Robert; Henderson, Alex; Schaaf, Christian P.; Streff, Haley E.; Yang, Yaping; Jain, Vani; Chida, Nodoka; Latypova, Xenia; Caignec, Cédric Le; Cogné, Benjamin; ... Journal: Human mutation Issue: Volume 37:Issue 4(2016) Page Start: 354 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019) Authors: Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete... Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Issue 9 (4th July 2018) Authors: Meester, Josephina A.N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert‐Dussardier, Brigitte; Holder‐Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nel... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams–Oliver Syndrome With Variable Cardiac Anomalies. (August 2015) Authors: Southgate, Laura; Sukalo, Maja; Karountzos, Anastasios S.V.; Taylor, Edward J.; Collinson, Claire S.; Ruddy, Deborah; Snape, Katie M.; Dallapiccola, Bruno; Tolmie, John L.; Joss, Shelagh; Brancati, Francesco; Digilio, Maria Cristina; Graul-Neumann, Luitgard M.; Salviati, Leonardo; Coerdt, Wiltrud... Journal: Circulation Issue: Volume 8:Number 4(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗