1. Autism, language and communication in children with sex chromosome trisomies. Issue 10 (23rd July 2010) Authors: Bishop, Dorothy V M; Jacobs, Patricia A; Lachlan, Katherine; Wellesley, Diana; Barnicoat, Angela; Boyd, Patricia A; Fryer, Alan; Middlemiss, Prisca; Smithson, Sarah; Metcalfe, Kay; Shears, Deborah; Leggett, Victoria; Nation, Kate; Scerif, Gaia Journal: Archives of disease in childhood Issue: Volume 96:Issue 10(2011) Page Start: 954 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019) Authors: Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete... Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 693 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Duplications upstream and downstream of SHOX identified as novel causes of Leri–Weill dyschondrosteosis or idiopathic short stature. Issue 4 (24th December 2015) Authors: Bunyan, David J.; Baffico, Maria; Capone, Lucia; Vannelli, Silvia; Iughetti, Lorenzo; Schmitt, Sébastien; Taylor, Emma‐Jane; Herridge, Adam A.; Shears, Deborah; Forabosco, Antonino; Coviello, Domenico A. Journal: American journal of medical genetics Issue: Volume 170:Issue 4(2016) Page Start: 949 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Ectopic vortex veins and varices in Donnai Barrow syndrome. (4th March 2022) Authors: Higham, Aisling; Hildebrand, Göran Darius; Graham-Evans, Katharine A. J.; Gilbert, Rodney D.; Horton, Rachel; Hunt, David; Shears, Deborah; Patel, Chetan Kantibhai Journal: Ophthalmic genetics Issue: Volume 43:Number 2(2022) Page Start: 248 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. Issue 12 (20th July 2016) Authors: Smogavec, Mateja; Cleall, Alison; Hoyer, Juliane; Lederer, Damien; Nassogne, Marie-Cécile; Palmer, Elizabeth E; Deprez, Marie; Benoit, Valérie; Maystadt, Isabelle; Noakes, Charlotte; Leal, Alejandro; Shaw, Marie; Gecz, Jozef; Raymond, Lucy; Reis, André; Shears, Deborah; Brockmann, Knut; Zweier, C... Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals. Issue 10 (9th August 2019) Authors: Burkardt, Deepika D'Cunha; Zachariou, Anna; Loveday, Chey; Allen, Clare L.; Amor, David J.; Ardissone, Anna; Banka, Siddharth; Bourgois, Alexia; Coubes, Christine; Cytrynbaum, Cheryl; Faivre, Laurence; Marion, Gerard; Horton, Rachel; Kotzot, Dieter; Lay‐Son, Guillermo; Lees, Melissa; Low, Karen; ... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2049 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism. Issue 1 (24th May 2022) Authors: Cranston, Treena; Boon, Hannah; Olesen, Mie K; Ryan, Fiona J; Shears, Deborah; London, Rosemary; Rostom, Hussam; Elajnaf, Taha; Thakker, Rajesh V; Hannan, Fadil M Journal: European journal of endocrinology Issue: Volume 187:Issue 1(2022) Page Start: 111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. The phenotype of Sotos syndrome in adulthood: A review of 44 individuals. Issue 4 (3rd September 2019) Authors: Foster, Alison; Zachariou, Anna; Loveday, Chey; Ashraf, Tazeen; Blair, Edward; Clayton‐Smith, Jill; Dorkins, Huw; Fryer, Alan; Gener, Blanca; Goudie, David; Henderson, Alex; Irving, Melita; Joss, Shelagh; Keeley, Vaughan; Lahiri, Nayana; Lynch, Sally Ann; Mansour, Sahar; McCann, Emma; Morton, Jen... Other Names: Burkardt Deepika guestEditor.; Tatton‐Brown Kate guestEditor.; Dobyns William B. guestEditor.; Graham John guestEditor. Journal: American journal of medical genetics Issue: Volume 181:Issue 4(2019) Page Start: 502 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Variable skeletal phenotypes associated with biallelic variants in PRKG2. Issue 10 (15th November 2021) Authors: Pagnamenta, Alistair T; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P; Toosi, Mehran B; Calder, Alistair D; Karimiani, Ehsan G; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina; Lester, Tracy; Maroofian, Reza; Heath, Karen E; Tajsharghi,... Other Names: author non-byline.; Ambrose John C author non-byline.; Arumugam Prabhu author non-byline.; Bevers Roel author non-byline.; Bleda Marta author non-byline.; Boardman-Pretty Freya author non-byline.; Boustred Christopher R author non-byline.; Brittain Helen author non-byline.; Caulfield Mark J auth... Journal: Journal of medical genetics Issue: Volume 59:Issue 10(2022) Page Start: 947 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗