1. A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement. Issue 1 (December 2016) Authors: Akawi, Nadia; Ben-Salem, Salma; Hertecant, Jozef; John, Anne; Pramathan, Thachillath; Kizhakkedath, Praseetha; Ali, Bassam; Al-Gazali, Lihadh Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss. Issue 5 (21st March 2017) Authors: Gariballa, Nesrin; Ben‐Mahmoud, Afif; Komara, Makanko; Al‐Shamsi, Aisha M.; John, Anne; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: American journal of medical genetics Issue: Volume 173:Issue 5(2017) Page Start: 1257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder. (4th October 2019) Authors: Abdelrahman, Hanadi A.; Al-Shamsi, Aisha; John, Anne; Ali, Bassam R.; Al-Gazali, Lihadh Journal: Child neurology open Issue: Volume 6(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A recessive truncating variant in thrombospondin‐1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family. Issue 9 (28th July 2018) Authors: Abdelrahman, Hanadi A.; Al‐Shamsi, Aisha; John, Anne; Hertecant, Jozef; Lootah, Ali; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: American journal of medical genetics Issue: Volume 176:Issue 9(2018) Page Start: 1996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Bi‐allelic null variant in matrix metalloproteinase‐15, causes congenital cardiac defect, cholestasis jaundice, and failure to thrive. Issue 4 (8th January 2022) Authors: Abdelrahman, Hanadi A.; Akawi, Nadia; Al‐Shamsi, Aisha M.; Ali, Amanat; Al‐Jasmi, Fatma; John, Anne; Hertecant, Jozef; Al‐Gazali, Lihadh; Ali, Bassam R. Journal: Clinical genetics Issue: Volume 101:Issue 4(2022) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family. Issue 2 (5th October 2015) Authors: Komara, Makanko; John, Anne; Suleiman, Jehan; Ali, Bassam R.; Al‐Gazali, Lihadh Journal: American journal of medical genetics Issue: Volume 170:Issue 2(2016) Page Start: 540 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Correlation of SIN3A genomic variants with β-hemoglobinopathies disease severity and hydroxyurea treatment efficacy. (November 2016) Authors: Gravia, Aikaterini; Chondrou, Vasiliki; Kolliopoulou, Alexandra; Kourakli, Alexandra; John, Anne; Symeonidis, Argyris; Ali, Bassam R; Sgourou, Argyro; Papachatzopoulou, Adamantia; Katsila, Theodora; Patrinos, George P Journal: Pharmacogenomics Issue: Volume 17:Number 16(2016) Page Start: 1785 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy. Issue 2 (9th November 2017) Authors: Ben-Salem, Salma; Robbins, Sarah M; LM Sobreira, Nara; Lyon, Angeline; Al-Shamsi, Aisha M; Islam, Barira K; Akawi, Nadia A; John, Anne; Thachillath, Pramathan; Al Hamed, Sania; Valle, David; Ali, Bassam R; Al-Gazali, Lihadh Journal: Journal of medical genetics Issue: Volume 55:Issue 2(2018) Page Start: 122 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia. Issue 11 (23rd October 2019) Authors: Kizhakkedath, Praseetha; John, Anne; Al‐Sawafi, Buthaina K.; Al‐Gazali, Lihadh; Ali, Bassam R. Journal: FEBS open bio Issue: Volume 9:Issue 11(2019) Page Start: 1994 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/β-thalassemia patients. (March 2016) Authors: Chalikiopoulou, Constantina; Tavianatou, Anastasia-Gerasimoula; Sgourou, Argyro; Kourakli, Alexandra; Kelepouri, Dimitra; Chrysanthakopoulou, Maria; Kanelaki, Vasiliki-Kaliopi; Mourdoukoutas, Evangelos; Siamoglou, Stavroula; John, Anne; Symeonidis, Argyris; Ali, Bassam R; Katsila, Theodora; Papac... Journal: Pharmacogenomics Issue: Volume 17:Number 4(2016) Page Start: 393 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗