1. A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis—Further evidence of genotype–phenotype correlation. Issue 7 (3rd April 2014) Authors: Drury, Suzanne; Boustred, Christopher; Tekman, Mehmet; Stanescu, Horia; Kleta, Robert; Lench, Nicholas; Chitty, Lyn S.; Scott, Richard H. Journal: American journal of medical genetics Issue: Volume 164:Issue 7(2014.) Page Start: 1777 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An online compendium of treatable genetic disorders. Issue 1 (22nd December 2020) Authors: Bick, David; Bick, Sarah L.; Dimmock, David P.; Fowler, Tom A.; Caulfield, Mark J.; Scott, Richard H. Other Names: Solomon Benjamin D. guestEditor. Journal: American journal of medical genetics Issue: Volume 187:Issue 1(2021) Page Start: 48 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of fibre optic strain gauges for field use in India. (2015) Authors: Scott, Richard H.; Banerji, Pradipta; Chikermane, Sanjay; Surre, Frederic; Sun, Tong; Grattan, Kenneth T.V. Journal: International journal of sustainable materials and structural systems Issue: Volume 2: Number 1/2(2015) Page Start: 96 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy. (2nd January 2018) Authors: McTague, Amy; Nair, Umesh; Malhotra, Sony; Meyer, Esther; Trump, Natalie; Gazina, Elena V.; Papandreou, Apostolos; Ngoh, Adeline; Ackermann, Sally; Ambegaonkar, Gautam; Appleton, Richard; Desurkar, Archana; Eltze, Christin; Kneen, Rachel; Kumar, Ajith V.; Lascelles, Karine; Montgomery, Tara; Rame... Journal: Neurology Issue: Volume 90:Number 1(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Contiguous gene deletion of TBX5 and TBX3: report of another case. Issue 1 (January 2018) Authors: Forzano, Francesca; Foley, Patricia A.; Keane, Morgan R.; Brain, Caroline E.; Smith, Gill D.; Yates, Robert W.; Ellershaw, Drew; Calder, Alistair D.; Scott, Richard H. Journal: Clinical dysmorphology Issue: Volume 27:Issue 1(2018:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome‐Overlapping Phenotypes. Issue 4 (17th March 2015) Authors: Gil‐Rodríguez, María Concepción; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero‐Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernández‐Marcos, María; Teresa‐Rodrigo, María Esperanza; Marcos‐Alcalde, Iñigo; Wesselink, Jan‐Jaap; Lusa‐Bernal, Silvia; B... Journal: Human mutation Issue: Volume 36:Issue 4(2015:Apr.) Page Start: 454 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Delineation of the movement disorders associated with FOXG1 mutations. (10th May 2016) Authors: Papandreou, Apostolos; Schneider, Ruth B.; Augustine, Erika F.; Ng, Joanne; Mankad, Kshitij; Meyer, Esther; McTague, Amy; Ngoh, Adeline; Hemingway, Cheryl; Robinson, Robert; Varadkar, Sophia M.; Kinali, Maria; Salpietro, Vincenzo; O'Driscoll, Margaret C.; Basheer, S. Nigel; Webster, Richard I.; M... Journal: Neurology Issue: Volume 86:Number 19(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Development of low cost packaged fibre optic sensors for use in reinforced concrete structures. (March 2019) Authors: Scott, Richard H.; Chikermane, Sanjay; Vidakovic, Miodrag; McKinley, Brett; Sun, Tong; Banerji, Pradipta; Grattan, Kenneth T.V. Journal: Measurement Issue: Volume 135(2019) Page Start: 617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. (11th September 2015) Authors: Drury, Suzanne; Williams, Hywel; Trump, Natalie; Boustred, Christopher; GOSGene; Lench, Nicholas; Scott, Richard H.; Chitty, Lyn S.; Chitty, Lyn S.; Bianchi, Diana W. Journal: Prenatal diagnosis Issue: Volume 35:Number 10(2015:Oct.) Page Start: 1010 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Familial recurrences of FOXG1‐related disorder: Evidence for mosaicism. (14th September 2015) Authors: McMahon, Kelly Q.; Papandreou, Apostolos; Ma, Mandy; Barry, Brenda J.; Mirzaa, Ghayda M.; Dobyns, William B.; Scott, Richard H.; Trump, Natalie; Kurian, Manju A.; Paciorkowski, Alex R. Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3096 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗