| 
 No 
 | 
 Title 
 | 
 Authors 
 | 
 Corresponding Author & Contact 
 
 | 
| 
 1 
 | 
 Artificial Intelligence in Rare Disease. 
 | 
 Radhakrishnan Mahalingam 
 | 
 Radhakrishnan Mahalingam RMahalingam@hamad.qa 
 | 
| 
 2 
 | 
 Variable clinical presentations of 30 patients with dihydrolipomide dehydrogenase (DLD) deficiency due to homozygous c.685G>T mutation 
 | 
 Al-Sulaiman R, Shahbeck N, Al-Kaabi S, Derbala M, Al-Dewik N, Al-Mureikhi M, Ali R, Al-Mesaifri 
F, Mahmoud L, Al-Mulla M, El-Akouri K, Musa S, Othman A, Derbala M, Makhseed N, Ben-Omran, T 
 | 
 Dr. Reem Jawad A A Al Sulaiman RAlSulaiman@hamad.qa 
 | 
| 
 3 
 | 
 Clinical exome sequencing in 508 Middle Eastern families with Mendelian diseases provides a high diagnostic yield and discovery of novel genes 
 | 
 Reem Alsulaiman, Nader Al-Dewik; Howaida Mohd; Mariam Al-mureikhi; Rehab Ali; Fatma Al-mesaifri; Laila Mahmoud; Noora Shahbeck; Karen El Akouri; Mariam Almulla; Sara Musa; Gabriele Richard; Jane Juusola; Fowzan Alkuraya; Tawfeg Ben-omran 
 | 
 Dr. Reem Jawad A A Al Sulaiman RAlSulaiman@hamad.qa 
 | 
| 
 4 
 | 
 Identifying Lynch syndrome in two families with classical hereditary breast and ovarian cancer syndrome phenotype: A case report 
 | 
 Salha Bujassoum, Reem Alsulaiman, Hind Elmalik, Kulssom Junejo, Ahmed Mahfouz, Hanan Farghaly 
 | 
 Dr. Salha Bujassoum 
sbujassoum@hamad.qa 
 | 
| 
 5 
 | 
 Cancer genetics program in Qatar: Data on Common and Rare cancer syndromes  
 | 
 Salha Bujassoum, Reem Alsulaiman, Hekmet Bugrein, Tawfeg Ben Omran, Fatemeh Abbaszadeh, Nawal Bakheet, Sitti Apsa kusasi, Nema Abdou, Benjamin Solomon, Hafedh Ghazouani 
 | 
 Dr. Salha Bujassoum 
sbujassoum@hamad.qa 
 | 
| 
 6 
 | 
 Qatar’s Experience with the Hereditary Breast and Ovarian Cancer and High Risk Clinic: A retrospective study 2013-2016 
 | 
 Salha Bujassoum, Hekmet Bugrein, Reem Al-Sulaiman, Hafedh Ghazouani 
 | 
 Dr. Salha Bujassoum sbujassoum@hamad.qa
  
 |