1. 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) ↗
2. 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) ↗
3. 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) ↗
4. Ear lobe creases: A novel phenotypic feature in KBG syndrome. Issue 5 (17th February 2022) Authors: Ashraf, Tazeen; Harrison, Mike; Irving, Melita Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1618 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Issue 10 (11th August 2020) Authors: Ashraf, Tazeen; Vaina, Camelia; Giri, Dinesh; Burren, Christine P.; James, Margaret; Offiah, Amaka C.; Overton, Timothy; Baptista, Julia; Ellard, Sian; Smithson, Sarah F. Journal: American journal of medical genetics Issue: Volume 182:Issue 10(2020) Page Start: 2403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series. (12th December 2022) Authors: Ching, Brian C.F.; Bennett, Sophie D.; Rojas, Natalia; Heyman, Isobel; Liang, Holan; Catanzano, Matteo; Coughtrey, Anna E.; Ashraf, Tazeen; Jones, Wendy D.; Male, Alison; Shafran, Roz Journal: Cognitive behaviour therapist Issue: Volume 15(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Issue 3 (24th February 2016) Authors: Suter, Aude‐Annick; Itin, Peter; Heinimann, Karl; Ahmed, Munaza; Ashraf, Tazeen; Fryssira, Helen; Kini, Usha; Lapunzina, Pablo; Miny, Peter; Sommerlund, Mette; Suri, Mohnish; Vaeth, Signe; Vasudevan, Pradeep; Gallati, Sabina Journal: Molecular genetics & genomic medicine Issue: Volume 4:Issue 3(2016) Page Start: 359 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199–214 cluster in the skeletal features of the condition. (3rd September 2015) Authors: Ashraf, Tazeen; Collinson, Morag N.; Fairhurst, Joanna; Wang, Rubin; Wilson, Louise C.; Foulds, Nicola Journal: American journal of medical genetics Issue: Volume 167:Number 12(2015:Dec.) Page Start: 3153 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗