1. Craniofacial Manifestations in Severe Nemaline Myopathy. Issue 3 (May 2017) Authors: Xue, Yunfeng; Magoulas, Pilar L.; Wirthlin, John O.; Buchanan, Edward P. Journal: Journal of craniofacial surgery Issue: Volume 28:Issue 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Evaluation and classification of severity for 176 genes on an expanded carrier screening panel. (16th June 2020) Authors: Arjunan, Aishwarya; Bellerose, Holly; Torres, Raul; Ben‐Shachar, Rotem; Hoffman, Jodi D.; Angle, Brad; Slotnick, Robert Nathan; Simpson, Brittany N.; Lewis, Andrea M.; Magoulas, Pilar L.; Bontempo, Kelly; Schulze, Jeanine; Tarpinian, Jennifer; Bucher, Jessica A.; Dineen, Richard; Goetsch, Allison... Journal: Prenatal diagnosis Issue: Volume 40:Number 10(2020) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic counselors on the frontline of precision health. Issue 1 (26th March 2018) Authors: Bamshad, Michael J.; Magoulas, Pilar L.; Dent, Karin M. Other Names: Dent Karin M. guestEditor.; Magoulas Pilar L. guestEditor.; Bamshad Michael J. guestEditor. Journal: American journal of medical genetics Issue: Volume 178:Issue 1(2018) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Inherited dup(17)(p11.2p11.2): Expanding the phenotype of the Potocki–Lupski syndrome. Issue 2 (5th December 2013) Authors: Magoulas, Pilar L.; Liu, Pengfei; Gelowani, Violet; Soler‐Alfonso, Claudia; Kivuva, Emma C.; Lupski, James R.; Potocki, Lorraine Journal: American journal of medical genetics Issue: Volume 164:Issue 2(2014.) Page Start: 500 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. The seventh international RASopathies symposium: Pathways to a cure—expanding knowledge, enhancing research, and therapeutic discovery. Issue 6 (9th March 2022) Authors: Kontaridis, Maria I.; Roberts, Amy E.; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Andelfinger, Gregor; Aoki, Yoko; Axelrad, Marni E.; Bakker, Annette; Bennett, Anton M.; Broniscer, Alberto; Castel, Pau; Chang, Caitlin A.; Cyganek, Lukas; Das, Tirtha K.; den Hertog, Jeroen; Galperin, Emilia; Gar... Journal: American journal of medical genetics Issue: Volume 188:Issue 6(2022) Page Start: 1915 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗