1. A CGG‐Repeat Expansion Mutation in ZNF713 Causes FRA7A: Association with Autistic Spectrum Disorder in Two Families. Issue 11 (November 2014) Authors: Metsu, Sofie; Rainger, Jacqueline K.; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S.; Scherer, Stephen W.; Kooy, R. Frank; FitzPatrick, David R. Journal: Human mutation Issue: Volume 35:Issue 11(2014:Nov.) Page Start: 1295 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Issue 1 (27th March 2013) Authors: Gerth‐Kahlert, Christina; Williamson, Kathleen; Ansari, Morad; Rainger, Jacqueline K.; Hingst, Volker; Zimmermann, Theodor; Tech, Stefani; Guthoff, Rudolf F.; van, Veronica; FitzPatrick, David R. Journal: Molecular genetics & genomic medicine Issue: Volume 1:Issue 1(2013:May) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 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. 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) ↗
6. Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes. Issue 11 (22nd September 2014) Authors: Snijders Blok, Charlotte; Corsten‐Janssen, Nicole; FitzPatrick, David R.; Romano, Corrado; Fichera, Marco; Vitello, Girolamo Aurelio; Willemsen, Marjolein H.; Schoots, Jeroen; Pfundt, Rolph; van Ravenswaaij‐Arts, Conny M.A.; Hoefsloot, Lies; Kleefstra, Tjitske Journal: American journal of medical genetics Issue: Volume 164:Issue 11(2014.) Page Start: 2843 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Genetic Interactions in Nonsyndromic Orofacial Clefts in Europe—EUROCRAN Study. (November 2017) Authors: Mossey, Peter A.; Little, Julian; Steegers-Theunissen, Regine; Molloy, Anne; Peterlin, Borut; Shaw, William C.; Johnson, Candice; FitzPatrick, David R.; Franceschelli, Paola; Rubini, Michele Journal: Cleft palate-craniofacial journal Issue: Volume 54:Number 6(2017) Page Start: 623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age. Issue 6 (19th April 2017) Authors: Moss, Joanna; Penhallow, Jessica; Ansari, Morad; Barton, Stephanie; Bourn, David; FitzPatrick, David R.; Goodship, Judith; Hammond, Peter; Roberts, Catherine; Welham, Alice; Oliver, Chris Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1566 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability. Issue 4 (3rd April 2016) Authors: Lam, Wayne W.K.; Millichap, John J.; Soares, Dinesh C.; Chin, Richard; McLellan, Ailsa; FitzPatrick, David R.; Elmslie, Frances; Lees, Melissa M.; Schaefer, G. Bradley; Abbott, Catherine M. Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 4(2016) Page Start: 465 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Status dystonicus in two patients with SOX2‐anophthalmia syndrome and nonsense mutations. Issue 11 (18th July 2016) Authors: Gorman, Kathleen M.; Lynch, Sally A.; Schneider, Adele; Grange, Dorothy K.; Williamson, Kathleen A.; FitzPatrick, David R.; King, Mary D. Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 3048 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗