Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Bertoli-Avella, Aida M, Beetz, Christian, Ameziane, Najim, Rocha, Maria Eugenia, Guatibonza, Pilar, Pereira, Catarina, Calvo, Maria, Herrera-Ordonez, Natalia, Segura-Castel, Monica, Diego-Alvarez, Dan, Zawada, Michal, Kandaswamy, Krishna K, Werber, Martin, Paknia, Omid, Zielske, Susan, Ugrinovski, Dimitar, Warnack, Gitte, Kampe, Kapil, Iurașcu, Marius-Ionuț, Cozma, Claudia, Vogel, Florian, Alhashem, Amal, Hertecant, Jozef, Al-Shamsi, Aisha M, Alswaid, Abdulrahman Faiz, Eyaid, Wafaa, Al Mutairi, Fuad, Alfares, Ahmed, Albalwi, Mohammed A, Alfadhel, Majid, Al-Sannaa, Nouriya Abbas, Reardon, Willie, Alanay, Yasemin, Rolfs, Arndt, Bauer, Peter
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
Get full text
Journal Article
Modeling monkeypox virus transmission: Stability analysis and comparison of analytical techniques
Aly, Elkhateeb Sobhy, Singh, Manoj, Aiyashi, Mohammed Ali, Albalwi, Mohammed Daher
Published in Open Physics (12.08.2024)
Published in Open Physics (12.08.2024)
Get full text
Journal Article
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations
Wang, Zheng, Iida, Aritoshi, Miyake, Noriko, Nishiguchi, Koji M, Fujita, Kosuke, Nakazawa, Toru, Alswaid, Abdulrahman, Albalwi, Mohammed A, Kim, Ok-Hwa, Cho, Tae-Joon, Lim, Gye-Yeon, Isidor, Bertrand, David, Albert, Rustad, Cecilie F, Merckoll, Else, Westvik, Jostein, Stattin, Eva-Lena, Grigelioniene, Giedre, Kou, Ikuyo, Nakajima, Masahiro, Ohashi, Hirohumi, Smithson, Sarah, Matsumoto, Naomichi, Nishimura, Gen, Ikegawa, Shiro
Published in PloS one (14.03.2016)
Published in PloS one (14.03.2016)
Get full text
Journal Article
The effect of the VKORC1 promoter variant on warfarin responsiveness in the Saudi WArfarin Pharmacogenetic (SWAP) cohort
Al Ammari, Maha, AlBalwi, Mohammed, Sultana, Khizra, Alabdulkareem, Ibrahim B., Almuzzaini, Bader, Almakhlafi, Nada S., Aldrees, Mohammed, Alghamdi, Jahad
Published in Scientific reports (15.07.2020)
Published in Scientific reports (15.07.2020)
Get full text
Journal Article
Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report
Al-Enezi, Ebtesam, Alghamdi, Mohannad, Al-Enezi, Khaled, AlBalwi, Mohammed, Davies, William, Eyaid, Wafaa
Published in Journal of medical case reports (05.09.2024)
Published in Journal of medical case reports (05.09.2024)
Get full text
Journal Article
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Bertoli-Avella, Aida M., Kandaswamy, Krishna K., Khan, Suliman, Ordonez-Herrera, Natalia, Tripolszki, Kornelia, Beetz, Christian, Rocha, Maria Eugenia, Urzi, Alize, Hotakainen, Ronja, Leubauer, Anika, Al-Ali, Ruslan, Karageorgou, Vasiliki, Moldovan, Oana, Dias, Patrícia, Alhashem, Amal, Tabarki, Brahim, Albalwi, Mohammed A., Alswaid, Abdulrahman Faiz, Al-Hassnan, Zuhair N., Alghamdi, Malak Ali, Hadipour, Zahra, Hadipour, Fatemeh, Al Hashmi, Nadia, Al-Gazali, Lihadh, Cheema, Huma, Zaki, Maha S., Hüning, Irina, Alfares, Ahmed, Eyaid, Wafaa, Al Mutairi, Fuad, Alfadhel, Majid, Alkuraya, Fowzan S., Al-Sannaa, Nouriya Abbas, AlShamsi, Aisha M., Ameziane, Najim, Rolfs, Arndt, Bauer, Peter
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
Get full text
Journal Article
Pro106Leu MPL mutation is associated with thrombocytosis and a low risk of thrombosis, splenomegaly and marrow fibrosis
Alzahrani, Musa, Al Turki, Saeed, Al Rajban, Waleed, Alshalati, Fatimah, Almodaihsh, Fahad, Abuelgasim, Khadega A., Alahmari, Bader, Al Bogami, Thamer, Ali, Osama, Al Harbi, Talal, AlBalwi, Mohammed A., Alotaibi, Maram, Aleem, Aamer, Al Asker, Ahmed, Al Mugairi, Areej
Published in Platelets (Edinburgh) (17.11.2022)
Published in Platelets (Edinburgh) (17.11.2022)
Get full text
Journal Article
Correction: Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report
Al-Enezi, Ebtesam, Alghamdi, Mohannad, Al-Enezi, Khaled, AlBalwi, Mohammed, Davies, William, Eyaid, Wafaa
Published in Journal of medical case reports (17.10.2024)
Published in Journal of medical case reports (17.10.2024)
Get full text
Journal Article
Hepatitis C virus genotypes in Saudi Arabia: a future prediction and laboratory profile
Bawazir, Amen, AlGusheri, Fahad, Jradi, Hoda, AlBalwi, Mohammed, Abdel-Gader, Abdel-Galil
Published in Virology journal (02.11.2017)
Published in Virology journal (02.11.2017)
Get full text
Journal Article
A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield
Alfares, Ahmed, Alfadhel, Majid, Wani, Tariq, Alsahli, Saud, Alluhaydan, Iram, Al Mutairi, Fuad, Alothaim, Ali, Albalwi, Mohammed, Al subaie, Lamia, Alturki, Saeed, Al-Twaijri, Waleed, Alrifai, Muhammad, Al-Rumayya, Ahmed, Alameer, Seham, Faqeeh, Eissa, Alasmari, Ali, Alsamman, Abdulaziz, Tashkandia, Soha, Alghamdi, Abdulaziz, Alhashem, Amal, Tabarki, Brahim, AlShahwan, Saad, Hundallah, Khalid, Wali, Sami, Al-Hebbi, Homoud, Babiker, Amir, Mohamed, Sarar, Eyaid, Wafaa, Zada, Abdul Ali Peer
Published in Molecular genetics and metabolism (01.06.2017)
Published in Molecular genetics and metabolism (01.06.2017)
Get full text
Journal Article
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G
Al-Qattan, Mohammad M, Hadadi, Ali, Al-Thunayan, Abdullah M, Eldali, Ahmed A, AlBalwi, Mohammed A
Published in BMC medical genetics (04.09.2018)
Published in BMC medical genetics (04.09.2018)
Get full text
Journal Article
A classification system for split-hand/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations
Al Ghamdi, Malak A., Al-Qattan, Mohammad M., Hadadi, Ali, Alabdulrahman, Abdulkareem, Almuzzaini, Bader, Alatwi, Nasser, AlBalwi, Mohammed A.
Published in European journal of medical genetics (01.03.2020)
Published in European journal of medical genetics (01.03.2020)
Get full text
Journal Article
Generation of induced pluripotent stem cell Line KAIMRCi001-A by reprogramming erythroid progenitors from peripheral blood of a healthy Saudi donor
Al-Shehri, Mohammad, Baadhaim, Moayad, Jamalalddin, Shereen, Aboalola, Doaa, Daghestani, Mustafa, AlZahrani, Hajar, Malibari, Dalal, Mubaraki, Mohammad, Aldubayan, Kholoud, AlBalwi, Mohammed, Alsayegh, Khaled
Published in Stem cell research (01.10.2021)
Published in Stem cell research (01.10.2021)
Get full text
Journal Article
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening
Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Alsaif, Saif, AlMohaimeed, Sulaiman A., Almashary, Maher A., Alharbi, Wardah, Alayyar, Latifah, Alasiri, Abdulrahman, Ballow, Mariam, AlAbdulrahman, Abdulkareem, Alaujan, Monira, Nashabat, Marwan, Al‐Odaib, Ali, Altwaijri, Waleed, Al‐Rumayyan, Ahmed, Alrifai, Muhammad T., Alfares, Ahmed, AlBalwi, Mohammed, Tabarki, Brahim
Published in Annals of clinical and translational neurology (01.10.2019)
Published in Annals of clinical and translational neurology (01.10.2019)
Get full text
Journal Article
Atypical influenza A(H1N1)pdm09 strains caused an influenza virus outbreak in Saudi Arabia during the 2009–2011 pandemic season
Khan, Anis, AlBalwi, Mohammed A., AlAbdulkareem, Ibraheem, AlMasoud, Abdulrahman, AlAsiri, Abdulrahman, AlHarbi, Wardah, AlSehile, Faisal, El-Saed, Aiman, Balkhy, Hanan H.
Published in Journal of infection and public health (01.07.2019)
Published in Journal of infection and public health (01.07.2019)
Get full text
Journal Article
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
Alfares, Ahmed, Alsubaie, Lamia, Aloraini, Taghrid, Alaskar, Aljoharah, Althagafi, Azza, Alahmad, Ahmed, Rashid, Mamoon, Alswaid, Abdulrahman, Alothaim, Ali, Eyaid, Wafaa, Ababneh, Faroug, Albalwi, Mohammed, Alotaibi, Raniah, Almutairi, Mashael, Altharawi, Nouf, Alsamer, Alhanouf, Abdelhakim, Marwa, Kafkas, Senay, Mineta, Katsuhiko, Cheung, Nicole, Abdallah, Abdallah M, Büchmann-Møller, Stine, Fukasawa, Yoshinori, Zhao, Xiang, Rajan, Issaac, Hoehndorf, Robert, Al Mutairi, Fuad, Gojobori, Takashi, Alfadhel, Majid
Published in BMC medical genomics (17.07.2020)
Published in BMC medical genomics (17.07.2020)
Get full text
Journal Article
Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples
AlSaif, Saif, Ponferrada, Ma Bella, AlKhairy, Khalid, AlTawil, Khalil, Sallam, Adel, Ahmed, Ibrahim, Khawaji, Mohammed, AlHathlol, Khalid, Baylon, Beverly, AlSuhaibani, Ahmed, AlBalwi, Mohammed
Published in BMC pediatrics (11.07.2017)
Published in BMC pediatrics (11.07.2017)
Get full text
Journal Article