1. A Challenging Diagnosis: PTEN Hamartoma Tumor Syndrome Presenting as Isolated Soft-tissue Vascular Anomalies. Issue 2 (14th May 2021) Authors: Hill, Lauren R. S.; Duis, Jessica; Kulungowski, Ann M.; Annam, Aparna; Siegele, Bradford; Nakano, Taizo A. Journal: Journal of Vascular Anomalies Issue: Volume 2:Issue 2(2021) Page Start: e011 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Issue 3 (11th February 2022) Authors: Duis, Jessica; Nespeca, Mark; Summers, Jane; Bird, Lynne; Bindels‐de Heus, Karen G.C.B.; Valstar, M. J.; de Wit, Marie‐Claire Y.; Navis, C.; ten Hooven‐Radstaake, Maartje; van Iperen‐Kolk, Bianca M.; Ernst, Susan; Dendrinos, Melina; Katz, Terry; Diaz‐Medina, Gloria; Katyayan, Akshat; Nangia, Sris... Journal: Molecular genetics & genomic medicine Issue: Volume 10:Issue 3(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A multidisciplinary approach to the clinical management of Prader–Willi syndrome. Issue 3 (29th January 2019) Authors: Duis, Jessica; van Wattum, Pieter J.; Scheimann, Ann; Salehi, Parisa; Brokamp, Elly; Fairbrother, Laura; Childers, Anna; Shelton, Althea Robinson; Bingham, Nathan C.; Shoemaker, Ashley H.; Miller, Jennifer L. Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 3(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cognitive and behavioral phenotype of children with pseudohypoparathyroidism type 1A. Issue 2 (28th November 2017) Authors: Perez, Katia M.; Lee, Evon B.; Kahanda, Sachini; Duis, Jessica; Reyes, Monica; Jüppner, Harald; Shoemaker, Ashley H. Journal: American journal of medical genetics Issue: Volume 176:Issue 2(2018) Page Start: 283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome. Issue 7 (1st April 2022) Authors: Turnwald, Abigail; Thompson, Talia; Nori, Kelly; Duis, Jessica Journal: American journal of medical genetics Issue: Volume 188:Issue 7(2022) Page Start: 2110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Gait as a quantitative translational outcome measure in Angelman syndrome. Issue 5 (10th March 2022) Authors: Petkova, Stela P.; Adhikari, Anna; Berg, Elizabeth L.; Fenton, Timothy A.; Duis, Jessica; Silverman, Jill L. Journal: Autism research Issue: Volume 15:Issue 5(2022) Page Start: 821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Issue 4 (24th August 2016) Authors: Duis, Jessica; Dean, Shannon; Applegate, Carolyn; Harper, Amy; Xiao, Rui; He, Weimin; Dollar, James D.; Sun, Lisa R.; Waberski, Marta Biderman; Crawford, Thomas O.; Hamosh, Ada; Stafstrom, Carl E. Journal: Annals of neurology Issue: Volume 80:Issue 4(2016:Oct.) Page Start: 633 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Limitations of exome sequencing in detecting rare and undiagnosed diseases. Issue 6 (19th March 2020) Authors: Burdick, Kendall J.; Cogan, Joy D.; Rives, Lynette C.; Robertson, Amy K.; Koziura, Mary E.; Brokamp, Elly; Duncan, Laura; Hannig, Vickie; Pfotenhauer, Jean; Vanzo, Rena; Paul, Michael S.; Bican, Anna; Morgan, Thomas; Duis, Jessica; Newman, John H.; Hamid, Rizwan; Phillips, John A. Journal: American journal of medical genetics Issue: Volume 182:Issue 6(2020) Page Start: 1400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neuropsychiatric features of Prader–Willi syndrome. Issue 5 (30th January 2022) Authors: Shelkowitz, Emily; Gantz, Marie G.; Ridenour, Ty A.; Scheimann, Ann O.; Strong, Theresa; Bohonowych, Jessica; Duis, Jessica Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1457 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Nutritional Formulation for Patients with Angelman Syndrome: A Randomized, Double-Blind, Placebo-Controlled Study of Exogenous Ketones. Issue 12 (11th September 2021) Authors: Carson, Robert P; Herber, Donna L; Pan, Zhaoxing; Phibbs, Fenna; Key, Alexandra P; Gouelle, Arnaud; Ergish, Patience; Armour, Eric A; Patel, Shital; Duis, Jessica Journal: Journal of nutrition Issue: Volume 151:Issue 12(2021) Page Start: 3628 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗