1. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Issue 9 (28th July 2018) Authors: Douglas, Ganka; Cho, Megan T.; Telegrafi, Aida; Winter, Susan; Carmichael, Jason; Zackai, Elaine H.; Deardorff, Matthew A.; Harr, Margaret; Williams, Linford; Psychogios, Apostolos; Erwin, Angelika L.; Grebe, Theresa; Retterer, Kyle; Juusola, Jane Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 1845 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Negotiated Sharing of Pandemic Data, Models, and Resources. Issue 4 (1st October 2020) Authors: Cutcher‐Gershenfeld, Joel; Baker, Karen S.; Berente, Nicholas; Berkman, Paul Arthur; Canavan, Pat; Feltus, F. Alex; Garmulewicz, Alysia; Hutchins, Ron; King, John Leslie; Kirkpatrick, Christine; Lenhardt, Chris; Lewis, Spencer; Maffe, Michael; Mittleman, Barbara; Sampath, Rajesh; Shin, Namchul; S... Journal: Negotiation journal Issue: Volume 36:Issue 4(2020) Page Start: 497 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Issue 10 (17th August 2017) Authors: Helm, Benjamin M.; Powis, Zoe; Prada, Carlos E.; Casasbuenas‐Alarcon, Olga L.; Balmakund, Tonya; Schaefer, G. B.; Kahler, Stephen G.; Kaylor, Julie; Winter, Susan; Zarate, Yuri A.; Schrier Vergano, Samantha A. Journal: American journal of medical genetics Issue: Volume 173:Issue 10(2017) Page Start: 2814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A theoretical analysis of independent business owners' preferences for informal information sources. Issue 1 (22nd October 2020) Authors: Chan, Joel; Brier, Jonathan; Farhadi, Zahra; Lee, Myeong; Janzen, Shawn; Chi, Wei‐Wei; Fellows, Andrew; Winter, Susan Journal: Proceedings of the Association for Information Science and Technology Issue: Volume 57:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. Issue 12 (26th November 2018) Authors: Sajan, Samin A; Ganesh, Jaya; Shinde, Deepali N; Powis, Zöe; Scarano, Maria I; Stone, Jennifer; Winter, Susan; Tang, Sha Journal: Journal of medical genetics Issue: Volume 56:Issue 12(2019) Page Start: 850 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Build It, But Will They Come? A Geoscience Cyberinfrastructure Baseline Analysis. (11th July 2016) Authors: Cutcher-Gershenfeld, Joel; Baker, Karen S.; Berente, Nicholas; Carter, Dorothy R.; DeChurch, Leslie A.; Flint, Courtney C.; Gershenfeld, Gabriel; Haberman, Michael; King, John Leslie; Kirkpatrick, Christine; Knight, Eric; Lawrence, Barbara; Lewis, Spenser; Lenhardt, W. Christopher; Lopez, Pablo; ... Journal: Data science journal Issue: Volume 15(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. (8th March 2016) Authors: Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H.; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, An... Journal: Neurology Issue: Volume 86:Number 10(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Organizational and training factors that promote team science: A qualitative analysis and application of theory to the National Institutes of Health's BIRCWH career development program. Issue 2 (8th February 2017) Authors: Guise, Jeanne-Marie; Winter, Susan; Fiore, Stephen M.; Regensteiner, Judith G.; Nagel, Joan Journal: Journal of clinical and translational science Issue: Volume 1:Issue 2(2017) Page Start: 101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Future directions for scholarship on data governance, digital innovation, and grand challenges. Issue 1 (March 2023) Authors: Davidson, Elizabeth; Wessel, Lauri; Winter, Jenifer Sunrise; Winter, Susan Journal: Information and organization Issue: Volume 33:Issue 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗