1. 127 ACTA1 associated myopathy with neurogenic EMG changes. Issue 6 (27th May 2022) Authors: Doherty, Carolynne; Blake, Julian; Manzur, Adnan; Wakeling, Emma; Shah, Sachit; Muntoni, Francesco; Reilly, Mary Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A140 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 203 ELN Gene: UKGTN Service for SVAS and Cutis Laxa. Copy Number Variants (CNVS) Are a Common Cause of Disease. (3rd June 2016) Authors: Gable, Mary; Burton-Jones, Sarah; Turner, Claire; Dean, John; Constantinou, Panayiotis; Scurr, Ingrid; Low, Karen; Wakeling, Emma; Newbury-Ecob, Ruth; Williams, Maggie Journal: Heart Issue: Volume 102(2016)Supplement 6 Page Start: A135 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 30 Rapid trio whole exome sequencing (R14) of an undiagnosed child, in the context of a new pregnancy. (15th December 2021) Authors: Koutsogianni, Maria; Wakeling, Emma; Male, Alison; Stals, Karen; Ashraf, Tazeen Journal: Archives of disease in childhood Issue: Volume 106(2021)Supplement 3 Page Start: A11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 90 Rapid exome sequencing service for acutely unwell children with a likely monogenic disorder. (30th November 2020) Authors: Steel, Edward; Leitch, Harry; Cobben, Jan; Wakeling, Emma Journal: Archives of disease in childhood Issue: Volume 105(2020)Supplement 2 Page Start: A31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype. Issue 2 (April 2020) Authors: Andoni, Tala; Ellard, Sian; Kapadia, Jogesh; Wakeling, Emma Journal: Clinical dysmorphology Issue: Volume 29:Issue 2(2020:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. (21st January 2015) Authors: Terhal, Paulien A.; Nievelstein, Rutger Jan A. J.; Verver, Eva J. J.; Topsakal, Vedat; van Dommelen, Paula; Hoornaert, Kristien; Le Merrer, Martine; Zankl, Andreas; Simon, Marleen E. H.; Smithson, Sarah F.; Marcelis, Carlo; Kerr, Bronwyn; Clayton‐Smith, Jill; Kinning, Esther; Mansour, Sahar; Elms... Journal: American journal of medical genetics Issue: Volume 167:Number 3(2015:Mar.) Page Start: 461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. 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) ↗
9. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing. (3rd December 2017) Authors: Stals, Karen L.; Wakeling, Matthew; Baptista, Júlia; Caswell, Richard; Parrish, Andrew; Rankin, Julia; Tysoe, Carolyn; Jones, Garan; Gunning, Adam C.; Lango Allen, Hana; Bradley, Lisa; Brady, Angela F.; Carley, Helena; Carmichael, Jenny; Castle, Bruce; Cilliers, Deirdre; Cox, Helen; Deshpande, Ch... Journal: Prenatal diagnosis Issue: Volume 38:Number 1(2018) Page Start: 33 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies. Issue 11 (7th August 2015) Authors: Sukalo, Maja; Tilsen, Felix; Kayserili, Hülya; Müller, Dietmar; Tüysüz, Beyhan; Ruddy, Deborah M.; Wakeling, Emma; Ørstavik, Karen Helene; Bramswig, Nuria C.; Snape, Katie M.; Trembath, Richard; De Smedt, Maryse; van der Aa, Nathalie; Skalej, Martin; Mundlos, Stefan; Wuyts, Wim; Southgate, Laura;... Journal: Human mutation Issue: Volume 36:Issue 11(2015:Nov.) Page Start: 1112 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗