1. Clinical Comparison of Overlapping Deletions of 19p13.3. Issue 5 (22nd April 2013) Authors: Risheg, Hiba; Pasion, Romela; Sacharow, Stephanie; Proud, Virginia; Immken, LaDonna; Schwartz, Stuart; Tepperberg, Jim H.; Papenhausen, Peter; Tan, Tiong Y.; Andrieux, Joris; Plessis, Ghislaine; Amor, David J.; Keitges, Elisabeth A. Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MED resulting from recessively inherited mutations in the gene encoding calcium‐activated nucleotidase CANT1. Issue 9 (25th July 2017) Authors: Balasubramanian, Karthika; Li, Bing; Krakow, Deborah; Nevarez, Lisette; Ho, Patric J.; Ainsworth, Julia A.; Nickerson, Deborah A.; Bamshad, Michael J.; Immken, LaDonna; Lachman, Ralph S.; Cohn, Daniel H. Journal: American journal of medical genetics Issue: Volume 173:Issue 9(2017) Page Start: 2415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency. Issue 2 (12th December 2012) Authors: Berryer, Martin H.; Hamdan, Fadi F.; Klitten, Laura L.; Møller, Rikke S.; Carmant, Lionel; Schwartzentruber, Jeremy; Patry, Lysanne; Dobrzeniecka, Sylvia; Rochefort, Daniel; Neugnot‐Cerioli, Mathilde; Lacaille, Jean‐Claude; Niu, Zhiyv; Eng, Christine M.; Yang, Yaping; Palardy, Sylvain; Belhumeur,... Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 385 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Issue 7 (2nd May 2016) Authors: Millan, Francisca; Cho, Megan T.; Retterer, Kyle; Monaghan, Kristin G.; Bai, Renkui; Vitazka, Patrik; Everman, David B.; Smith, Brooke; Angle, Brad; Roberts, Victoria; Immken, LaDonna; Nagakura, Honey; DiFazio, Marc; Sherr, Elliott; Haverfield, Eden; Friedman, Bethany; Telegrafi, Aida; Juusola, J... Journal: American journal of medical genetics Issue: Volume 170:Issue 7(2016) Page Start: 1791 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗