1. Genetic and metabolic profiling of individuals with Phelan‐McDermid syndrome presenting with seizures. Issue 1 (27th October 2021) Authors: Jain, Lavanya; Oberman, Lindsay M.; Beamer, Laura; Cascio, Lauren; May, Melanie; Srikanth, Sujata; Skinner, Cindy; Jones, Kelly; Allen, Bridgette; Rogers, Curtis; Phelan, Katy; Kaufmann, Walter E.; DuPont, Barbara; Sarasua, Sara M.; Boccuto, Luigi Journal: Clinical genetics Issue: Volume 101:Issue 1(2022) Page Start: 87 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Concomitant 11p15.4‐p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith–Wiedemann syndrome. Issue 12 (23rd August 2016) Authors: Peterson, Jess F.; Bick, David P.; Geddes, Gabrielle C.; McCarrier, Julie; Grignon, John W.; Chirempes, Brett; Broeckel, Ulrich; Abidi, Fatima; Rogers, Richard C.; Boccuto, Luigi; DuPont, Barbara; vanTuinen, Peter Journal: American journal of medical genetics Issue: Volume 170:Issue 12(2016) Page Start: 3348 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Variability in Phelan‐McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism. Issue 6 (11th October 2018) Authors: Boccuto, Luigi; Abenavoli, Ludovico; Cascio, Lauren; Srikanth, Sujata; DuPont, Barbara; Mitz, Andrew R.; Rogers, Roger Curtis; Phelan, Katy Journal: Clinical genetics Issue: Volume 94:Issue 6(2018) Page Start: 590 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Variant ATRX Syndrome with Dysfunction of ATRX and MAGT1 Genes. Issue 1 (10th November 2013) Authors: Qiao, Ying; Mondal, Kajari; Trapani, Valentina; Wen, Jiadi; Carpenter, Gillian; Wildin, Robert; Price, E. Magda; Gibbons, Richard J.; Eichmeyer, Jennifer; Jiang, Ruby; DuPont, Barbara; Martell, Sally; Lewis, Suzanne M. E.; Robinson, Wendy P.; O'Driscoll, Mark; Wolf, Federica I.; Zwick, Michael E.... Journal: Human mutation Issue: Volume 35:Issue 1(2014:Jan.) Page Start: 58 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Angelman syndrome with a 15q11q13 deletion in a mother and daughter. Issue 2 (12th November 2021) Authors: Bell, Shannon; Butler, Kameryn M.; Drazba, Kathryn T.; Lynch, Jennifer; Abidi, Fatima E.; DuPont, Barbara; Stevenson, Roger E. Journal: Clinical dysmorphology Issue: Volume 31:Issue 2(2022) Page Start: 91 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗