1. A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. Issue 1 (December 2016) Authors: Monies, Dorota; Alhindi, Hindi; Almuhaizea, Mohamed; Abouelhoda, Mohamed; Alazami, Anas; Goljan, Ewa; Alyounes, Banan; Jaroudi, Dyala; AlIssa, Abdulelah; Alabdulrahman, Khalid; Subhani, Shazia; El-Kalioby, Mohamed; Faquih, Tariq; Wakil, Salma; Altassan, Nada; Meyer, Brian; Bohlega, Saeed Journal: Human genomics Issue: Volume 10:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Characterizing the morbid genome of ciliopathies. Issue 1 (December 2016) Authors: Shaheen, Ranad; Szymanska, Katarzyna; Basu, Basudha; Patel, Nisha; Ewida, Nour; Faqeih, Eissa; Al Hashem, Amal; Derar, Nada; Alsharif, Hadeel; Aldahmesh, Mohammed; Alazami, Anas; Hashem, Mais; Ibrahim, Niema; Abdulwahab, Firdous; Sonbul, Rawda; Alkuraya, Hisham; Alnemer, Maha; Al Tala, Saeed; Al-... Journal: Genome biology Issue: Volume 17:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the phenome and variome of skeletal dysplasia. (December 2018) Authors: Maddirevula, Sateesh; Alsahli, Saud; Alhabeeb, Lamees; Patel, Nisha; Alzahrani, Fatema; Shamseldin, Hanan; Anazi, Shams; Ewida, Nour; Alsaif, Hessa; Mohamed, Jawahir; Alazami, Anas; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Abouelhoda, Mohamed; Monies, Dorota; Al Tassan, Nada; Alshammari... Journal: Genetics in medicine Issue: Volume 20:Number 12(2018) Page Start: 1609 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report. Issue 1 (December 2016) Authors: Seidahmed, Mohammed; Salih, Mustafa; Abdulbasit, Omer; Samadi, Abdulmohsen; Al Hussien, Khalid; Miqdad, Abeer; Biary, Maha; Alazami, Anas; Alorainy, Ibrahim; Kabiraj, Mohammad; Shaheen, Ranad; Alkuraya, Fowzan Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency. (October 2016) Authors: Holohan, Brody; Kim, Wanil; Lai, Tsung-Po; Hoshiyama, Hirotoshi; Zhang, Ning; Alazami, Anas; Wright, Woodring; Meyn, M.; Alkuraya, Fowzan; Shay, Jerry Journal: BMC genomics Issue: Volume 17:Number 9(2016) Page Start: 79 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Issue 1 (December 2015) Authors: Sanders, Anna; de Vrieze, Erik; Alazami, Anas; Alzahrani, Fatema; Malarkey, Erik; Sorusch, Nasrin; Tebbe, Lars; Kuhns, Stefanie; van Dam, Teunis; Alhashem, Amal; Tabarki, Brahim; Lu, Qianhao; Lambacher, Nils; Kennedy, Julie; Bowie, Rachel; Hetterschijt, Lisette; van Beersum, Sylvia; van Reeuwijk,... Journal: Genome biology Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. TLE6 mutation causes the earliest known human embryonic lethality. Issue 1 (December 2015) Authors: Alazami, Anas; Awad, Salma; Coskun, Serdar; Al-Hassan, Saad; Hijazi, Hadia; Abdulwahab, Firdous; Poizat, Coralie; Alkuraya, Fowzan Journal: Genome biology Issue: Volume 16:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗