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