1. 17 Using whole genome sequencing to make new diagnoses in paediatrics: successes, challenges and lifelong learning. (22nd November 2019) Authors: Menzies, Lara; Morrogh, Deborah; Cullup, Thomas; Buckton, Andrew; Clement, Emma; Kumar, Ajith; Hurst, Jane Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 69 Looking beyond no primary findings in the 100, 000 genomes project: can additional bioinformatics analysis reveal diagnoses?. (22nd November 2019) Authors: Hay, Eleanor; Morrogh, Deborah; Clement, Emma; Ashton, Emma; Buckton, Andrew; Lombard, Patrick; Faravelli, Francesca; Kumar, Ajith; Hurst, Jane; Chitty, Lyn; Scott, Richard Journal: Archives of disease in childhood Issue: Volume 104:(2019)Supplement 4 Page Start: A27 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Issue 1 (December 2017) Authors: Le Quesne Stabej, Polona; James, Chela; Ocaka, Louise; Tekman, Mehmet; Grunewald, Stephanie; Clement, Emma; Stanescu, Horia; Kleta, Robert; Morrogh, Deborah; Calder, Alistair; Williams, Hywel; Bitner-Glindzicz, Maria Journal: Orphanet journal of rare diseases Issue: Volume 12:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Confined placental mosaicism: implications for fetal chromosomal analysis using microarray comparative genomic hybridization. (14th November 2013) Authors: Karampetsou, Evangelia; Morrogh, Deborah; Ballard, Terry; Waters, Jonathan J.; Lench, Nicholas; Chitty, Lyn S. Journal: Prenatal diagnosis Issue: Volume 34:Number 1(2014:Jan.) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications. Issue 4 (31st March 2018) Authors: Wolfe, Kate; McQuillin, Andrew; Alesi, Viola; Boudry Labis, Elise; Cutajar, Peter; Dallapiccola, Bruno; Dentici, Maria Lisa; Dieux‐Coeslier, Anne; Duban‐Bedu, Benedicte; Duelund Hjortshøj, Tina; Goel, Himanshu; Loddo, Sara; Morrogh, Deborah; Mosca‐Boidron, Anne‐Laure; Novelli, Antonio; Olivier‐Fa... Journal: American journal of medical genetics Issue: Volume 177:Issue 4(2018) Page Start: 397 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnostic implications of genetic copy number variation in epilepsy plus. (13th March 2019) Authors: Coppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djémié, Tania; Bartnik‐Glaska, Magdalena; Ceulemans, Berten; Helen Cross, J.; Deconinck, Tine; Masi, Salvatore De; Dorn, Thomas; Guerrini, Renzo; Hoffman‐Zacharska, Dorotha; Kooy, Frank; Lag... Other Names: Lehesjioki Anna‐Elina investigator.; Craiu Dana investigator.; Talvik Tiina investigator.; Caglayan Hande investigator.; Serratosa Jose investigator.; Sterbova Katalin investigator.; Møller Rikke S. investigator.; Hjalgrim Helle investigator.; Lerche Holger investigator.; Weber Yvonne investigato... Journal: Epilepsia Issue: Volume 60:issue 4(2019) Page Start: 689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. Issue 5 (18th March 2016) Authors: Trump, Natalie; McTague, Amy; Brittain, Helen; Papandreou, Apostolos; Meyer, Esther; Ngoh, Adeline; Palmer, Rodger; Morrogh, Deborah; Boustred, Christopher; Hurst, Jane A; Jenkins, Lucy; Kurian, Manju A; Scott, Richard H Journal: Journal of medical genetics Issue: Volume 53:Issue 5(2016) Page Start: 310 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. What is array CGH?. Issue 4 (30th May 2013) Authors: Tadros, Shereen; Morrogh, Deborah; Scott, Richard H Journal: Archives of disease in childhood Issue: Volume 98:Issue 4(2013) Page Start: 134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗