1. Copy number analysis of NIPBL in a cohort of 510 patients reveals rare copy number variants and a mosaic deletion. Issue 2 (14th November 2013) Authors: Cheng, Yu‐Wei; Tan, Christopher A.; Minor, Agata; Arndt, Kelly; Wysinger, Latrice; Grange, Dorothy K.; Kozel, Beth A.; Robin, Nathaniel H.; Waggoner, Darrel; Fitzpatrick, Carrie; Das, Soma; Gaudio, Daniela del Journal: Molecular genetics & genomic medicine Issue: Volume 2:Issue 2(2014:Mar.) Page Start: 115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cover Image, Volume 176A, Number 5, May 2018. Issue 5 (21st April 2018) Authors: Kruszka, Paul; Porras, Antonio R.; de Souza, Deise Helena; Moresco, Angélica; Huckstadt, Victoria; Gill, Ashleigh D.; Boyle, Alec P.; Hu, Tommy; Addissie, Yonit A.; Mok, Gary T. K.; Tekendo‐Ngongang, Cedrik; Fieggen, Karen; Prijoles, Eloise J.; Tanpaiboon, Pranoot; Honey, Engela; Luk, Ho‐Ming; Lo... Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effects of Obesity and Hypertension on Pulse Wave Velocity in Children. Issue 3 (11th August 2016) Authors: Kulsum‐Mecci, Nazia; Goss, Charles; Kozel, Beth A.; Garbutt, Jane M.; Schechtman, Kenneth B.; Dharnidharka, Vikas R. Journal: Journal of clinical hypertension Issue: Volume 19:Issue 3(2017) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Exome sequencing of 85 Williams–Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior. Issue 5 (15th July 2018) Authors: Kopp, Nathan D.; Parrish, Phoebe C. R.; Lugo, Michael; Dougherty, Joseph D.; Kozel, Beth A. Journal: Molecular genetics & genomic medicine Issue: Volume 6:Issue 5(2018) Page Start: 749 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identifying environmental risk factors and gene–environment interactions in holoprosencephaly. Issue 1 (28th October 2020) Authors: Addissie, Yonit A.; Troia, Angela; Wong, Zoe C.; Everson, Joshua L.; Kozel, Beth A.; Muenke, Maximilian; Lipinski, Robert J.; Malecki, Kristen M.C.; Kruszka, Paul Journal: Birth defects research Issue: Volume 113:Issue 1(2021) Page Start: 63 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Neuraxial dysraphism in EPAS1-associated syndrome due to improper mesenchymal transition. (June 2020) Authors: Rosenblum, Jared S.; Cappadona, Anthony J.; Argersinger, Davis P.; Pang, Ying; Wang, Herui; Nazari, Matthew A.; Munasinghe, Jeeva P.; Donahue, Danielle R.; Jha, Abhishek; Smirniotopoulos, James G.; Miettinen, Markku M.; Knutsen, Russell H.; Kozel, Beth A.; Zhuang, Zhengping; Pacak, Karel; Heiss, ... Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Perspectives on Cognitive Phenotypes and Models of Vascular Disease. Issue 7 (5th May 2022) Authors: Muratoglu, Selen C.; Charette, Marc F.; Galis, Zorina S.; Greenstein, Adam S.; Daugherty, Alan; Joutel, Anne; Kozel, Beth A.; Wilcock, Donna M.; Collins, Emily C.; Sorond, Farzaneh A.; Howell, Gareth R.; Hyacinth, Hyacinth I.; Lloyd, Kent K.C.; Stenmark, Kurt R.; Boehm, Manfred; Kahn, Mark L.; Co... Journal: Arteriosclerosis, thrombosis, and vascular biology Issue: Volume 42:Issue 7(2022) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Skin findings in Williams syndrome. Issue 9 (11th June 2014) Authors: Kozel, Beth A.; Bayliss, Susan J.; Berk, David R.; Waxler, Jessica L.; Knutsen, Russell H.; Danback, Joshua R.; Pober, Barbara R. Journal: American journal of medical genetics Issue: Volume 164:Issue 9(2014.) Page Start: 2217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams–Beuren syndrome. Issue 5 (20th February 2020) Authors: Lugo, Michael; Wong, Zoë C.; Billington, Charles J.; Parrish, Phoebe C. R.; Muldoon, Glennis; Liu, Delong; Pober, Barbara R.; Kozel, Beth A. Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 1008 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic. Issue 2 (March 2019) Authors: Groves, Andrew P.; Gettinger, Katie; Druley, Todd E.; Kozel, Beth A.; Shinawi, Marwan; Mohrmann, Caroline; Henry, Jennifer; Jacobi, Celina; Trinkaus, Kathryn; Hayashi, Robert J. Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗