1. Arterial tortuosity syndrome: 40 new families and literature review. (October 2018) Authors: Beyens, Aude; Albuisson, Juliette; Boel, Annekatrien; Al-Essa, Mazen; Al-Manea, Waheed; Bonnet, Damien; Bostan, Ozlem; Boute, Odile; Busa, Tiffany; Canham, Nathalie; Cil, Ergun; Coucke, Paul; Cousin, Margot; Dasouki, Majed; De Backer, Julie; De Paepe, Anne; De Schepper, Sofie; De Silva, Deepthi; ... Journal: Genetics in medicine Issue: Volume 20:Number 10(2018) Page Start: 1236 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Autopsy findings in EPG5‐related Vici syndrome with antenatal onset. Issue 9 (27th July 2017) Authors: Touraine, Renaud; Laquerrière, Annie; Petcu, Carmen‐Adina; Marguet, Florent; Byrne, Susan; Mein, Rachael; Yau, Shu; Mohammed, Shehla; Guibaud, Laurent; Gautel, Mathias; Jungbluth, Heinz Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2522 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. De novo, heterozygous, loss‐of‐function mutations in SYNGAP1 cause a syndromic form of intellectual disability. (15th June 2015) Authors: Parker, Michael J.; Fryer, Alan E.; Shears, Deborah J.; Lachlan, Katherine L.; McKee, Shane A.; Magee, Alex C.; Mohammed, Shehla; Vasudevan, Pradeep C.; Park, Soo‐Mi; Benoit, Valérie; Lederer, Damien; Maystadt, Isabelle; study, DDD; FitzPatrick, David R. Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2231 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. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. (18th April 2018) Authors: Cundy, Tim; Dray, Michael; Delahunt, John; Hald, Jannie Dahl; Langdahl, Bente; Li, Chumei; Szybowska, Marta; Mohammed, Shehla; Duncan, Emma L; McInerney‐Leo, Aideen M; Wheeler, Patricia G; Roschger, Paul; Klaushofer, Klaus; Rai, Jyoti; Weis, MaryAnn; Eyre, David; Schwarze, Ulrike; Byers, Peter H Journal: Journal of bone and mineral research Issue: Volume 33:Number 7(2018) Page Start: 1260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. P53 Protein Detected By Immunohistochemical Staining is Not Always Mutant. Issue 5 (1993) Authors: Macgeoch, Catriona; Barnes, Diana M.; Newton, Julia A.; Mohammed, Shehla; Hodgson, Shirley V.; Ng, Mun; Bishop, D. Timothy; Spurr, Nigel K. Journal: Disease markers Issue: Volume 11:Issue 5/6(1993) Page Start: 239 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Issue 12 (15th October 2018) Authors: Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, T... Journal: Journal of medical genetics Issue: Volume 55:Issue 12(2018) Page Start: 837 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗