1. Alcohol Intervention for Adolescents with Fetal Alcohol Spectrum Disorders: Project Step Up, a Treatment Development Study. (24th May 2016) Authors: O'Connor, Mary J.; Quattlebaum, Justin; Castañeda, Marleen; Dipple, Katrina M. Journal: Alcoholism Issue: Volume 40:Number 8(2016) Page Start: 1744 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cleft Lip and Palate in a Patient with 5q35.2-q35.3 Microdeletion: The Importance of Chromosomal Microarray Testing in the Craniofacial Clinic. (September 2013) Authors: Peredo, Jane; Quintero-Rivera, Fabiola; Bradley, James P.; Tu, Marinda; Dipple, Katrina M. Journal: Cleft palate-craniofacial journal Issue: Volume 50:Number 5(2013) Page Start: 618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Duodenal atresia in 17q12 microdeletion including HNF1B: A new associated malformation in this syndrome. Issue 12 (24th September 2014) Authors: Quintero‐Rivera, Fabiola; Woo, Jennifer S.; Bomberg, Eric M.; Wallace, W. Dean; Peredo, Jane; Dipple, Katrina M. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3076 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Familial Microdeletion of 17q24.3 Upstream of SOX9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect. Issue 5 (26th March 2013) Authors: Amarillo, Ina E.; Dipple, Katrina M.; Quintero‐Rivera, Fabiola Journal: American journal of medical genetics Issue: Volume 161:Issue 5(2013:May) Page Start: 1167 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. Issue 7 (21st May 2013) Authors: Bui, Peter H.; Dorrani, Naghmeh; Wong, Derek; Perens, Gregory; Dipple, Katrina M.; Quintero‐Rivera, Fabiola Journal: American journal of medical genetics Issue: Volume 161:Issue 7(2013:Jul.) Page Start: 1773 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing. Issue 5 (3rd March 2019) Authors: German, Kendell; Deutsch, Gail H.; Freed, Amanda S.; Dipple, Katrina M.; Chabra, Shilpi; Bennett, James T. Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. Issue 2 (19th November 2015) Authors: Huang, Lijia; Vanstone, Megan R.; Hartley, Taila; Osmond, Matthew; Barrowman, Nick; Allanson, Judith; Baker, Laura; Dabir, Tabib A.; Dipple, Katrina M.; Dobyns, William B.; Estrella, Jane; Faghfoury, Hanna; Favaro, Francine P.; Goel, Himanshu; Gregersen, Pernille A.; Gripp, Karen W.; Grix, Art; G... Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 148 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019) Authors: Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein... Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Suicide risk in adolescents with fetal alcohol spectrum disorders. Issue 12 (24th January 2019) Authors: O'Connor, Mary J.; Portnoff, Larissa C.; Lebsack‐Coleman, Michael; Dipple, Katrina M. Other Names: Parnell Scott guestEditor.; Chambers Christina guestEditor. Journal: Birth defects research Issue: Volume 111:Issue 12(2019) Page Start: 822 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗