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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 Althagafi, Malak 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 ...
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2,200 previously unpublished Saudi families as a first-tier test.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
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1240 - 1257
Journal Article
Journal Article
Journal of Paediatrics and Child Health, ISSN 1034-4810, 06/2017, Volume 53, Issue 6, pp. 585 - 591
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2404 - 2418
Warsaw breakage syndrome (WBS) is a recently recognized DDX11 ‐related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction,... 
microcephaly | exome sequencing | Warsaw breakage syndrome | growth restriction | DDX11 | cohesinopathy | hearing loss | cochlear anomalies | Hypoplasia | Pathogenicity | Phenotypes | Microencephaly | Growth rate | Cochlea | Microcephaly | Genotypes | Hearing loss
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 05/2018, Volume 82, Issue 3, pp. 165 - 170
IntroductionPrimary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory... 
microcephaly | cataract | CDK5RAP2 | EXOME | VARIANTS | GENETICS | GENETICS & HEREDITY | Cataract | Genetic disorders | Nucleotide sequencing | Analysis | DNA sequencing | Cataracts | Phenotypes | Microencephaly | Etiology | Microcephaly | Cyclin-dependent kinase 5 | Hearing loss | Index Medicus
Journal Article
Neuropediatrics, ISSN 0174-304X, 2015, Volume 46, Issue 2, pp. 98 - 103
Pediatric movement disorders are still a diagnostic challenge, as many patients remain without a (genetic) diagnosis. Magnetic resonance imaging (MRI) pattern... 
Original Article | 3-methylglutaconic aciduria | Leigh syndrome | SERAC1 | MEGDEL syndrome | basal ganglia involvement | putamen | CLINICAL NEUROLOGY | ENCEPHALOPATHY | 3-HYDROXYISOBUTYRIC ACIDURIA | LEIGH-SYNDROME | PEDIATRICS | PATIENT | MUTATIONS | ASSOCIATION
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
Genes, ISSN 2073-4425, 05/2018, Volume 9, Issue 5, p. 267
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next... 
Genomes | Genetic diversity | Mutation | Genes | Hereditary diseases | inherited diseases | mutations | Saudi Human Genome Program database | targeted NGS | AmpliSeq Inherited Disease Panel | gene panel
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 07/2019, pp. 1 - 10
Background: Classical MMA, caused by methylmalonyl-CoA mutase deficiency, may result in late-onset dysfunction in several organ systems. To date, 10 cases of... 
Journal Article
Genes, ISSN 2073-4425, 05/2018, Volume 9, Issue 5
Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next... 
Journal Article