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by Monies, Dorota and Abouelhoda, Mohamed and AlSayed, Moeenaldeen and Alhassnan, Zuhair and Alotaibi, Maha and Kayyali, Husam and Al-Owain, Mohammed and Shah, Ayaz and Rahbeeni, Zuhair and Al-Muhaizea, Mohammad A and Alzaidan, Hamad I and Cupler, Edward and Bohlega, Saeed and Faqeih, Eissa and Faden, Maha and Alyounes, Banan and Jaroudi, Dyala and Goljan, Ewa and Elbardisy, Hadeel and Akilan, Asma and Albar, Renad and Aldhalaan, Hesham and Gulab, Shamshad and Chedrawi, Aziza and Al Saud, Bandar K and Kurdi, Wesam and Makhseed, Nawal and Alqasim, Tahani and El Khashab, Heba Y and Al-Mousa, Hamoud and Alhashem, Amal and Kanaan, Imaduddin and Algoufi, Talal and Alsaleem, Khalid and Basha, Talal A and Al-Murshedi, Fathiya and Khan, Sameena and Al-Kindy, Adila and Alnemer, Maha and Al-Hajjar, Sami and Alyamani, Suad and Aldhekri, Hasan and Al-Mehaidib, Ali and Arnaout, Rand and Dabbagh, Omar and Shagrani, Mohammad and Broering, Dieter and Tulbah, Maha and Alqassmi, Amal and Almugbel, Maisoon and AlQuaiz, Mohammed and Alsaman, Abdulaziz and Al-Thihli, Khalid and Sulaiman, Raashda A and Al-Dekhail, Wajeeh and Alsaegh, Abeer and Bashiri, Fahad A and Qari, Alya and Alhomadi, Suzan and Alkuraya, Hisham and Alsebayel, Mohammed and Hamad, Muddathir H and Szonyi, Laszlo and Abaalkhail, Faisal and Al-Mayouf, Sulaiman M and Almojalli, Hamad and Alqadi, Khalid S and Elsiesy, Hussien and Shuaib, Taghreed M and Seidahmed, Mohammed Zain and Abosoudah, Ibraheem and Akleh, Hana and AlGhonaium, Abdulaziz and Alkharfy, Turki M and Al Mutairi, Fuad and Eyaid, Wafa and Alshanbary, Abdullah and Sheikh, Farrukh R and Alsohaibani, Fahad I and Alsonbul, Abdullah and Al Tala, Saeed and Balkhy, Soher and Bassiouni, Randa and Alenizi, Ahmed S and Hussein, Maged H and Hassan, Saeed and Khalil, Mohamed and Tabarki, Brahim and Alshahwan, Saad and Oshi, Amira and Sabr, Yasser and Alsaadoun, Saad and Salih, Mustafa A and Mohamed, Sarar and Sultana, Habiba and Tamim, Abdullah and El-Haj, Moayad and Alshahrani, Saif and Bubshait, Dalal K and Alfadhel, Majid and ...
Human Genetics, ISSN 0340-6717, 8/2017, Volume 136, Issue 8, pp. 921 - 939
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 04/2018, Volume 39, Issue 4, pp. 461 - 470
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2019, Volume 95, Issue 2, pp. 310 - 319
Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families)... 
Zellweger syndrome | genotype/phenotype correlation | peroxisomal disorder | VLCFA | founder mutation | DIAGNOSIS | BIOGENESIS DISORDERS | ADRENOLEUKODYSTROPHY | IDENTIFICATION | ZELLWEGER SPECTRUM | DEFICIENCY | GENOMICS | CLINICAL-MANIFESTATIONS | BIOCHEMISTRY | GENETICS & HEREDITY | MUTATIONS | Peroxisomes | Phenotypes | Spastic paraparesis | Epilepsy | Substantia alba | Fatty acids | Survival | Genotypes | Reductase
Journal Article
by Monies, Dorota and Abouelhoda, Mohammed and Assoum, Mirna and Moghrabi, Nabil and Rafiullah, Rafiullah and Almontashiri, Naif and Alowain, Mohammed and Alzaidan, Hamad and Alsayed, Moeen and Subhani, Shazia and Cupler, Edward and Faden, Maha and Alhashem, Amal and Qari, Alya and Chedrawi, Aziza and Aldhalaan, Hisham and Kurdi, Wesam and Khan, Sameena and Rahbeeni, Zuhair and Alotaibi, Maha and Goljan, Ewa and Elbardisy, Hadeel and ElKalioby, Mohamed and Shah, Zeeshan and Alruwaili, Hibah and Jaafar, Amal and Albar, Ranad and Akilan, Asma and Tayeb, Hamsa and Tahir, Asma and Fawzy, Mohammed and Nasr, Mohammed and Makki, Shaza and Alfaifi, Abdullah and Akleh, Hanna and Yamani, Suad and Bubshait, Dalal and Mahnashi, Mohammed and Basha, Talal and Alsagheir, Afaf and Abu Khaled, Musad and Alsaleem, Khalid and Almugbel, Maisoon and Badawi, Manal and Bashiri, Fahad and Bohlega, Saeed and Sulaiman, Raashida and Tous, Ehab and Ahmed, Syed and Algoufi, Talal and Al-Mousa, Hamoud and Alaki, Emadia and Alhumaidi, Susan and Alghamdi, Hadeel and Alghamdi, Malak and Sahly, Ahmed and Nahrir, Shapar and Al-Ahmari, Ali and Alkuraya, Hisham and Alkuraya, Fowzan S and Almehaidib, Ali and Abanemai, Mohammed and Alsohaibaini, Fahad and Alsaud, Bandar and Arnaout, Rand and Abdel-Salam, Ghada M.H and Aldhekri, Hasan and AlKhater, Suzan and Alqadi, Khalid and Alsabban, Essam and Alshareef, Turki and Awartani, Khalid and Banjar, Hanaa and Alsahan, Nada and Abosoudah, Ibraheem and Alashwal, Abdullah and Aldekhail, Wajeeh and Alhajjar, Sami and Al-Mayouf, Sulaiman and Alsemari, Abdulaziz and Alshuaibi, Walaa and Altala, Saeed and Altalhi, Abdulhadi and Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and AlBalwi, Mohammed and ...
The American Journal of Human Genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1182 - 1201
We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of... 
knockout | clinical genomics | hybrid phenotype | phenotypic expansion | multilocus phenotypes | fetal malformation | autozygome | genomics-first | exome | gonadal mosaicism | expanded carrier screening | candidate genes | first-tier | prenatal | dual diagnosis | Usage | Phenotype | Care and treatment | Analysis | Mosaicism | Genetic aspects | Nucleotide sequencing | DNA sequencing
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2019, Volume 104, Issue 4, pp. 731 - 737
Ciliopathies are clinical disorders of the primary cilium with widely recognized phenotypic and genetic heterogeneity. In two Arab consanguineous families, we... 
SHH | ciliary length | oral-facial-digital syndrome | bulbous ciliary tip | Joubert syndrome | PROTEINS | GENETICS & HEREDITY | Genetic research | Genetic aspects | Research | Gene mutations | Risk factors | Report
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 21, Issue 5, pp. 1164 - 1172
Purpose: Genetic testing in pediatric cholestasis can be very informative but genetic causes have not been fully characterized. Methods: Exome sequencing and... 
cholestasis | GGT | hepatocytes | polarity | LOCALIZATION | MEMBRANE | HEARING | FURROW | GENETICS & HEREDITY | GENERATION | MICE | MUTATIONS | PROTEINS | CELL
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2017, Volume 53, Issue 6, pp. 585 - 591
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, p. e76831
Journal Article
by Monies, Dorota and Abouelhoda, Mohammed and Assoum, Mirna and Moghrabi, Nabil and Rafiullah, Rafiullah and Almontashiri, Naif and Alowain, Mohammed and Alzaidan, Hamad and Alsayed, Moeen and Subhani, Shazia and Cupler, Edward and Faden, Maha and Alhashem, Amal and Qari, Alya and Chedrawi, Aziza and Aldhalaan, Hisham and Kurdi, Wesam and Khan, Sameena and Rahbeeni, Zuhair and Alotaibi, Maha and Goljan, Ewa and Elbardisy, Hadeel and ElKalioby, Mohamed and Shah, Zeeshan and Alruwaili, Hibah and Jaafar, Amal and Albar, Ranad and Akilan, Asma and Tayeb, Hamsa and Tahir, Asma and Fawzy, Mohammed and Nasr, Mohammed and Makki, Shaza and Alfaifi, Abdullah and Akleh, Hanna and Yamani, Suad and Bubshait, Dalal and Mahnashi, Mohammed and Basha, Talal and Alsagheir, Afaf and Khaled, Musad Abu and Alsaleem, Khalid and Almugbel, Maisoon and Badawi, Manal and Bashiri, Fahad and Bohlega, Saeed and Sulaiman, Raashida and Tous, Ehab and Ahmed, Syed and Algoufi, Talal and Al-Mousa, Hamoud and Alaki, Emadia and Alhumaidi, Susan and Alghamdi, Hadeel and Alghamdi, Malak and Sahly, Ahmed and Nahrir, Shapar and Al-Ahmari, Ali and Alkuraya, Hisham and Alkuraya, Fowzan S and Almehaidib, Ali and Abanemai, Mohammed and Alsohaibaini, Fahad and Alsaud, Bandar and Arnaout, Rand and Abdel-Salam, Ghada M.H and Aldhekri, Hasan and AlKhater, Suzan and Alqadi, Khalid and Alsabban, Essam and Alshareef, Turki and Awartani, Khalid and Banjar, Hanaa and Alsahan, Nada and Abosoudah, Ibraheem and Alashwal, Abdullah and Aldekhail, Wajeeh and Alhajjar, Sami and Al-Mayouf, Sulaiman and Alsemari, Abdulaziz and Alshuaibi, Walaa and Altala, Saeed and Altalhi, Abdulhadi and Baz, Salah and Hamad, Muddathir and Abalkhail, Tariq and Alenazi, Badi and Alkaff, Alya and Almohareb, Fahad and Al Mutairi, Fuad and Alsaleh, Mona and Alsonbul, Abdullah and Alzelaye, Somaya and Bahzad, Shakir and Manee, Abdulaziz Bin and Jarrad, Ola and Meriki, Neama and Albeirouti, Bassem and Alqasmi, Amal and AlBalwi, Mohammed and ...
The American Journal of Human Genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 879 - 879
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 50 - 54
Infantile-Onset Pompe Disease (IOPD) is an autosomal recessive disorder of glycogen metabolism resulting from deficiency of the lysosomal hydrolase acid... 
Pompe disease | Glycogen storage disease type II | Enzyme replacement therapy | GAA | GENE | GENETICS & HEREDITY | ACID ALPHA-GLUCOSIDASE | MUTATIONS | LESSONS | IDENTIFICATION | CHILDREN
Journal Article