1. A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome. Issue 1 (January 2020) Authors: Oakley-Hannibal, Elizabeth; Ghali, Neeti; Pope, Francis Michael; De Franco, Elisa; Ellard, Sian; van Dijk, Fleur S.; Brady, Angela F. Journal: Clinical dysmorphology Issue: Volume 29:Issue 1(2020:Jan.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency. (11th April 2023) Authors: Pagnamenta, Alistair T.; Yu, Jing; Willis, Tracey A.; Hashim, Mona; Seaby, Eleanor G.; Walker, Susan; Xian, Jiaqi; Cheng, Emily W. Y.; Tavares, Ana Lisa Taylor; Forzano, Francesca; Cox, Helen; Dabir, Tabib; Brady, Angela F.; Ghali, Neeti; Atanur, Santosh S.; Ennis, Sarah; Baralle, Diana; Taylor, ... Other Names: Amor David J. Academic Editor. Journal: Human mutation Issue: Volume 2023(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Arterial complications in classical Ehlers-Danlos syndrome: a case series. Issue 11 (28th May 2020) Authors: Angwin, Chloe; Brady, Angela F; Pope, F Michael; Vandersteen, Anthony; Baker, Duncan; Cheema, Harveer; Sobey, Glenda; Johnson, Diana; von Klemperer, Kate; Kazkaz, Hanadi; van Dijk, Fleur; Ghali, Neeti Journal: Journal of medical genetics Issue: Volume 57:Issue 11(2020) Page Start: 769 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Authors' reply to Mahmood, Borumandi, and Williams. (23rd October 2019) Authors: Ghali, Neeti; Sobey, Glenda; Burrows, Nigel Journal: BMJ Issue: Volume 367(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome. Issue 5 (24th February 2020) Authors: Ayoub, Sandy; Ghali, Neeti; Angwin, Chloe; Baker, Duncan; Baffini, Stella; Brady, Angela F.; Giovannucci Uzielli, Maria Luisa; Giunta, Cecilia; Johnson, Diana S.; Kosho, Tomoki; Neas, Katherine; Pope, F. Michael; Rutsch, Frank; Scarselli, Gloria; Sobey, Glenda; Vandersteen, Anthony; van Dijk, Fle... Journal: American journal of medical genetics Issue: Volume 182:Issue 5(2020) Page Start: 994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical findings of 21 previously unreported probands with HNRNPU‐related syndrome and comprehensive literature review. Issue 7 (22nd April 2020) Authors: Durkin, Anna; Albaba, Shadi; Fry, Andrew E.; Morton, Jenny E.; Douglas, Andrew; Beleza, Ana; Williams, Denise; Volker‐Touw, Catharina M.L.; Lynch, Sally A.; Canham, Natalie; Clowes, Virginia; Straub, Volker; Lachlan, Katherine; Gibbon, Frances; El Gamal, Mayy; Varghese, Vinod; Parker, Michael J.;... Journal: American journal of medical genetics Issue: Volume 182:Issue 7(2020) Page Start: 1637 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, structural, biochemical and X‐ray crystallographic correlates of pathogenicity for variants in the C‐propeptide region of the COL3A1 gene. (5th April 2015) Authors: Stembridge, Natasha S.; Vandersteen, Anthony M.; Ghali, Neeti; Sawle, Philip; Nesbitt, Mandy; Pollitt, Rebecca C.; Ferguson, David J. P.; Holden, Simon; Elmslie, Frances; Henderson, Alex; Hulmes, David J. S.; Pope, F.Michael Journal: American journal of medical genetics Issue: Volume 167:Number 8(2015:Aug.) Page Start: 1763 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Ehlers-Danlos syndromes. (18th September 2019) Authors: Ghali, Neeti; Sobey, Glenda; Burrows, Nigel Journal: BMJ Issue: Volume 366(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Enrichment of Rare Variants in Loeys–Dietz Syndrome Genes in Spontaneous Coronary Artery Dissection but Not in Severe Fibromuscular Dysplasia. Issue 10 (8th September 2020) Authors: Verstraeten, Aline; Perik, Melanie H.A.M.; Baranowska, Anna A.; Meester, Josephina A.N.; Van Den Heuvel, Lotte; Bastianen, Jarl; Kempers, Marlies; Krapels, Ingrid P.C.; Maas, Angela; Rideout, Andrea; Vandersteen, Anthony; Sobey, Glenda; Johnson, Diana; Fransen, Erik; Ghali, Neeti; Webb, Tom; Al-H... Journal: Circulation Issue: Volume 142:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings. Issue 2 (24th December 2021) Authors: Pickwick, Charlotte; Callewaert, Bert; van Dijk, Fleur; Harris, Juliette; Wakeling, Emma; Hay, Eleanor; Yeo, Mildrid; Chakrapani, Anupam; Baptista, Julia; Moore, Sandra; Yoong, Michael; Chatterjee, Fiona; Ghali, Neeti Journal: Clinical dysmorphology Issue: Volume 31:Issue 2(2022) Page Start: 66 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗