1. A Systematic Large‐scale Phenotypic Analysis of de novo and Inherited Copy Number Variation. Issue 12 (December 2013) Authors: Robinson, Peter N. Journal: Human mutation Issue: Volume 34:Issue 12(2013:Dec.) Page Start: v Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An expanded evaluation of protein function prediction methods shows an improvement in accuracy. Issue 1 (December 2016) Authors: Jiang, Yuxiang; Oron, Tal Ronnen; Clark, Wyatt T.; Bankapur, Asma R.; D'Andrea, Daniel; Lepore, Rosalba; Funk, Christopher S.; Kahanda, Indika; Verspoor, Karin M.; Ben-Hur, Asa; Koo, Da Chen Emily; Penfold-Brown, Duncan; Shasha, Dennis; Youngs, Noah; Bonneau, Richard; Lin, Alexandra; Sahraeian, S... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An integrative systems approach identifies novel candidates in Marfan syndrome‐related pathophysiology. Issue 4 (24th January 2019) Authors: Bhushan, Raghu; Altinbas, Lukas; Jäger, Marten; Zaradzki, Marcin; Lehmann, Daniel; Timmermann, Bernd; Clayton, Nicholas P.; Zhu, Yunxiang; Kallenbach, Klaus; Kararigas, Georgios; Robinson, Peter N. Journal: Journal of cellular and molecular medicine Issue: Volume 23:Issue 4(2019) Page Start: 2526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical Data: Sources and Types, Regulatory Constraints, Applications. Issue 4 (9th May 2019) Authors: Ahalt, Stanley C.; Chute, Christopher G.; Fecho, Karamarie; Glusman, Gustavo; Hadlock, Jennifer; Taylor, Casey Overby; Pfaff, Emily R.; Robinson, Peter N.; Solbrig, Harold; Ta, Casey; Tatonetti, Nicholas; Weng, Chunhua Journal: Clinical and translational science Issue: Volume 12:Issue 4(2019) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. (24th July 2019) Authors: Köhler, Sebastian; Øien, N. Christine; Buske, Orion J.; Groza, Tudor; Jacobsen, Julius O. B.; McNamara, Craig; Vasilevsky, Nicole; Carmody, Leigh C.; Gourdine, J. P.; Gargano, Michael; McMurry, Julie A.; Danis, Daniel; Mungall, Christopher J.; Smedley, Damian; Haendel, Melissa; Robinson, Peter N. Editors: Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R. Journal: Current protocols in human genetics Issue: Volume 103(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Evaluation of exome filtering techniques for the analysis of clinically relevant genes. Issue 2 (14th December 2017) Authors: Kernohan, Kristin D.; Hartley, Taila; Alirezaie, Najmeh; Robinson, Peter N.; Dyment, David A.; Boycott, Kym M. Journal: Human mutation Issue: Volume 39:Issue 2(2018) Page Start: 197 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature†. Issue 12 (20th October 2014) Authors: Ehmke, Nadja; Parvaneh, Nima; Krawitz, Peter; Ashrafi, Mahmoud‐Reza; Karimi, Parviz; Mehdizadeh, Mehrzad; Krüger, Ulrike; Hecht, Jochen; Mundlos, Stefan; Robinson, Peter N. Journal: American journal of medical genetics Issue: Volume 164:Issue 12(2014.) Page Start: 3170 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Further evidence for FGF16 truncating mutations as the cause of X‐linked recessive fusion of metacarpals 4 / 5. Issue 4 (7th April 2014) Authors: Jamsheer, Aleksander; Śmigiel, Robert; Jakubiak, Aleksandra; Zemojtel, Tomasz; Socha, Magdalena; Robinson, Peter N.; Mundlos, Stefan Journal: Birth defects research Issue: Volume 100:Issue 4(2014:Apr.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Further evidence for FGF16 truncating mutations as the cause of X‐linked recessive fusion of metacarpals 4 / 5. Issue 4 (7th April 2014) Authors: Jamsheer, Aleksander; Śmigiel, Robert; Jakubiak, Aleksandra; Zemojtel, Tomasz; Socha, Magdalena; Robinson, Peter N.; Mundlos, Stefan Journal: Birth defects research Issue: Volume 100:Issue 4(2014:Apr.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. GA4GH Phenopackets: A Practical Introduction. Issue 1 (25th August 2022) Authors: Ladewig, Markus S.; Jacobsen, Julius O. B.; Wagner, Alex H.; Danis, Daniel; El Kassaby, Baha; Gargano, Michael; Groza, Tudor; Baudis, Michael; Steinhaus, Robin; Seelow, Dominik; Bechrakis, Nikolaos E.; Mungall, Christopher J.; Schofield, Paul N.; Elemento, Olivier; Smith, Lindsay; McMurry, Julie ... Journal: Advanced genetics Issue: Volume 4:Issue 1(2023) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗