1. 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) ↗
2. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Issue 7 (6th July 2020) Authors: Marquez, Jonathan; Mann, Nina; Arana, Kathya; Deniz, Engin; Ji, Weizhen; Konstantino, Monica; Mis, Emily K; Deshpande, Charu; Jeffries, Lauren; McGlynn, Julie; Hugo, Hannah; Widmeier, Eugen; Konrad, Martin; Tasic, Velibor; Morotti, Raffaella; Baptista, Julia; Ellard, Sian; Lakhani, Saquib Ali; Hi... Journal: Journal of medical genetics Issue: Volume 58:Issue 7(2021) Page Start: 453 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis. Issue 6 (31st July 2017) Authors: Sukalo, Maja; Schäflein, Eva; Schanze, Ina; Everman, David B.; Rezaei, Nima; Argente, Jesús; Lorda‐Sanchez, Isabel; Deshpande, Charu; Takahashi, Tsutomu; Kleger, Alexander; Zenker, Martin Journal: Molecular genetics & genomic medicine Issue: Volume 5:Issue 6(2017) Page Start: 774 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014) Authors: Sukalo, Maja; Fiedler, Ariane; Guzmán, Celina; Spranger, Stephanie; Addor, Marie‐Claude; Mcheik, Jiad N.; Oltra Benavent, Manuel; Cobben, Jan M.; Gillis, Lynette A.; Shealy, Amy G.; Deshpande, Charu; Bozorgmehr, Bita; Everman, David B.; Stattin, Eva‐Lena; Liebelt, Jan; Keller, Klaus‐Michael; Bert... Journal: Human mutation Issue: Volume 35:Issue 5(2014:May) Page Start: 521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Pathogenic variants in HTRA2 cause an early‐onset mitochondrial syndrome associated with 3‐methylglutaconic aciduria. Issue 1 (30th September 2016) Authors: Oláhová, Monika; Thompson, Kyle; Hardy, Steven A.; Barbosa, Inês A.; Besse, Arnaud; Anagnostou, Maria‐Eleni; White, Kathryn; Davey, Tracey; Simpson, Michael A.; Champion, Michael; Enns, Greg; Schelley, Susan; Lightowlers, Robert N.; Chrzanowska‐Lightowlers, Zofia M. A.; McFarland, Robert; Deshpan... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 1(2017) Page Start: 121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension. Issue 21 (21st November 2017) Authors: Hadinnapola, Charaka; Bleda, Marta; Haimel, Matthias; Screaton, Nicholas; Swift, Andrew; Dorfmüller, Peter; Preston, Stephen D.; Southwood, Mark; Hernandez-Sanchez, Jules; Martin, Jennifer; Treacy, Carmen; Yates, Katherine; Bogaard, Harm; Church, Colin; Coghlan, Gerry; Condliffe, Robin; Corris, P... Journal: Circulation Issue: Volume 136:Issue 21(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy. (3rd February 2015) Authors: Schottmann, Gudrun; Jungbluth, Heinz; Schara, Ulrike; Knierim, Ellen; Morales Gonzalez, Susanne; Gill, Esther; Seifert, Franziska; Norwood, Fiona; Deshpande, Charu; von Au, Katja; Schuelke, Markus; Senderek, Jan Journal: Neurology Issue: Volume 84:Number 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes. Issue 3 (6th January 2015) Authors: Waters, Aoife M; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M; Deshpande, Charu; O' Sullivan, Ma... Journal: Journal of medical genetics Issue: Volume 52:Issue 3(2015) Page Start: 147 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗