1. A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies. (3rd September 2015) Authors: Labonne, Jonathan D. J.; Vogt, Julie; Reali, Lisa; Kong, Il‐Keun; Layman, Lawrence C.; Kim, Hyung‐Goo Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3011 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders. Issue 6 (4th March 2020) Authors: Vogt, Julie; Al‐Saedi, Atif; Willis, Tracey; Male, Alison; McKie, Arthur; Kiely, Nigel; Maher, Eamonn R. Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Issue 2 (8th June 2022) Authors: Christensen, Maria B.; Levy, Amanda M.; Mohammadi, Nazanin A.; Niceta, Marcello; Kaiyrzhanov, Rauan; Dentici, Maria Lisa; Al Alam, Chadi; Alesi, Viola; Benoit, Valérie; Bhatia, Kailash P.; Bierhals, Tatjana; Boßelmann, Christian M.; Buratti, Julien; Callewaert, Bert; Ceulemans, Berten; Charles, P... Journal: Clinical genetics Issue: Volume 102:Issue 2(2022) Page Start: 98 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015) Authors: Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath... Journal: American journal of medical genetics Issue: Volume 167:Number 2(2015:Feb.) Page Start: 296 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. CHRNG genotype–phenotype correlations in the multiple pterygium syndromes. Issue 1 (13th December 2011) Authors: Vogt, Julie; Morgan, Neil V; Rehal, Pauline; Faivre, Laurence; Brueton, Louise A; Becker, Kristin; Fryns, Jean-Pierre; Holder, Sue; Islam, Lily; Kivuva, Emma; Lynch, Sally Ann; Touraine, Renaud; Wilson, Louise C; MacDonald, Fiona; Maher, Eamonn R Journal: Journal of medical genetics Issue: Volume 49:Issue 1(2012) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and genetic aspects of KBG syndrome. Issue 11 (26th September 2016) Authors: Low, Karen; Ashraf, Tazeen; Canham, Natalie; Clayton‐Smith, Jill; Deshpande, Charu; Donaldson, Alan; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fryer, Alan; Gibson, Kate; Hayes, Ian; Hills, Alison; Holder, Susan; Irving, Melita; Joss, Shelagh; Kivuva, Emma; Lachlan, Kathryn; Magee, Alex; ... Journal: American journal of medical genetics Issue: Volume 170:Issue 11(2016) Page Start: 2835 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Compound heterozygous RMND1 gene variants associated with chronic kidney disease, dilated cardiomyopathy and neurological involvement: a case report. (December 2016) Authors: Gupta, Asheeta; Colmenero, Isabel; Ragge, Nicola; Blakely, Emma; He, Langping; McFarland, Robert; Taylor, Robert; Vogt, Julie; Milford, David Journal: BMC research notes Issue: Volume 9:Number 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype. Issue 4 (18th March 2019) Authors: Radley, Jessica A.; O'Sullivan, Rory B.G.; Turton, Sarah E.; Cox, Helen; Vogt, Julie; Morton, Jenny; Jones, Elizabeth; Smithson, Sarah; Lachlan, Katherine; Rankin, Julia; Clayton‐Smith, Jill; Willoughby, Josh; Elmslie, Frances F.; Sansbury, Francis H.; Cooper, Nicola; Balasubramanian, Meena Journal: Clinical genetics Issue: Volume 95:Issue 4(2019) Page Start: 496 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu‐Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall–Smith Syndrome. Issue 9 (8th July 2014) Authors: Schanze, Denny; Neubauer, Dorothée; Cormier‐Daire, Valerie; Delrue, Marie‐Ange; Dieux‐Coeslier, Anne; Hasegawa, Tomonobu; Holmberg, Eva E.; Koenig, Rainer; Krueger, Gabriele; Schanze, Ina; Seemanova, Eva; Shaw, Adam C.; Vogt, Julie; Volleth, Marianne; Reis, André; Meinecke, Peter; Hennekam, Raoul... Journal: Human mutation Issue: Volume 35:Issue 9(2014:Sep.) Page Start: 1092 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. Issue 4 (11th September 2021) Authors: Zheng, Wen-Qiang; Pedersen, Signe Vandal; Thompson, Kyle; Bellacchio, Emanuele; French, Courtney E; Munro, Benjamin; Pearson, Toni S; Vogt, Julie; Diodato, Daria; Diemer, Tue; Ernst, Anja; Horvath, Rita; Chitre, Manali; Ek, Jakob; Wibrand, Flemming; Grange, Dorothy K; Raymond, Lucy; Zhou, Xiao-Lo... Journal: Human molecular genetics Issue: Volume 31:Issue 4(2022) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗