1. A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype. Issue 8 (13th April 2016) Authors: Beunders, Gea; van de Kamp, Jiddeke; Vasudevan, Pradeep; Morton, Jenny; Smets, Katrien; Kleefstra, Tjitske; de Munnik, Sonja A; Schuurs-Hoeijmakers, Janneke; Ceulemans, Berten; Zollino, Marcella; Hoffjan, Sabine; Wieczorek, Stefan; So, Joyce; Mercer, Leanne; Walker, Tanya; Velsher, Lea; Parker, M... Journal: Journal of medical genetics Issue: Volume 53:Issue 8(2016) Page Start: 523 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly. Issue 6 (30th March 2018) Authors: Pagnamenta, Alistair T.; Murakami, Yoshiko; Anzilotti, Consuelo; Titheradge, Hannah; Oates, Adam J.; Morton, Jenny; Kinoshita, Taroh; Kini, Usha; Taylor, Jenny C. Journal: Human mutation Issue: Volume 39:Issue 6(2018) Page Start: 822 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A9 Leaders not followers: sheep as large models of huntington's disease. (13th September 2016) Authors: Morton, Jenny Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87(2016)Supplement 1 Page Start: A3 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings. Issue 5 (12th March 2016) Authors: Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton‐Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angu... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cover Image, Volume 170A, Number 5, May 2016. Issue 5 (14th April 2016) Authors: Tooley, Madeleine; Lynch, Danielle; Bernier, Francois; Parboosingh, Jillian; Bhoj, Elizabeth; Zackai, Elaine; Calder, Alistair; Itasaki, Nobue; Wakeling, Emma; Scott, Richard; Lees, Melissa; Clayton‐Smith, Jill; Blyth, Moira; Morton, Jenny; Shears, Debbie; Kini, Usha; Homfray, Tessa; Clarke, Angu... Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: i Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort. Issue 9 (4th July 2018) Authors: Meester, Josephina A.N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert‐Dussardier, Brigitte; Holder‐Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; McKenzie, Fiona; Morton, Jenny; Nel... Journal: Human mutation Issue: Volume 39:Issue 9(2018) Page Start: 1246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Expanding the phenotype of biallelic loss‐of‐function variants in the NSUN2 gene: Description of four individuals with juvenile cataract, chronic nephritis, or brain anomaly as novel complications. Issue 1 (20th October 2020) Authors: Kato, Kohji; Mizuno, Seiji; Morton, Jenny; Toyama, Miho; Hara, Yuichiro; Wasmer, Evangeline; Lehmann, Alan; Ogi, Tomoo Journal: American journal of medical genetics Issue: Volume 185:Issue 1(2021) Page Start: 282 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FOXP1-related intellectual disability syndrome: a recognisable entity. Issue 9 (22nd July 2017) Authors: Meerschaut, Ilse; Rochefort, Daniel; Revençu, Nicole; Pètre, Justine; Corsello, Christina; Rouleau, Guy A; Hamdan, Fadi F; Michaud, Jacques L; Morton, Jenny; Radley, Jessica; Ragge, Nicola; García-Miñaúr, Sixto; Lapunzina, Pablo; Bralo, Maria Palomares; Mori, Maria Ángeles; Moortgat, Stéphanie; B... Journal: Journal of medical genetics Issue: Volume 54:Issue 9(2017) Page Start: 613 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis. Issue 5 (6th April 2015) Authors: Syx, Delfien; Van Damme, Tim; Symoens, Sofie; Maiburg, Merel C.; van de Laar, Ingrid; Morton, Jenny; Suri, Mohnish; Del Campo, Miguel; Hausser, Ingrid; Hermanns‐Lê, Trinh; De Paepe, Anne; Malfait, Fransiska Journal: Human mutation Issue: Volume 36:Issue 5(2015:May) Page Start: 535 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗