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Dasouki, Majed, MD
Overview
overview
- “Majed Dasouki, MD, is a board-certified clinical and biochemical geneticist and cytogeneticist. Before becoming the Medical Director of Genomics and Personalized Health at AdventHealth for Children in 2020, he served as Director of Newborn Screening and led the biochemical genetics lab at the esteemed King Faisal Specialist Hospital & Research Center in Saudi Arabia. He has also served on the faculty and in various leadership roles at the University of Kansas, University of Missouri, Vanderbilt University, and elsewhere. His research interests include biochemical genetics and clinical cytogenetics, newborn screening and tandem mass spectrometry, novel therapies and clinical trials to address metabolic genetic disorders, gene mapping of single-gene disorders, and more. He has authored or co-authored 118 publications reflecting his diverse research findings in his field, most recently “Proteomics profiling to distinguish DOCK8 deficiency from atopic dermatitis”(Front. Allergy) and “Profiling of Cystic Renal Disease towards Biomarker Discovery” (Biology). Dr. Dasouki’s medical training has included elite fellowships in pediatric genetics at the University of Michigan and in biochemical genetics at the University of Missouri. Specialties: Congenital malformations (dysmorphology) and chromosomal disorders Familial genetic disorders Genodermatosis, cardiogenetics and neurogenetics Growth and developmental delays/intellectual disabilities Metabolic disorders (inborn error of metabolism) Oncogenetics (inherited cancer syndromes) Prenatal genetic abnormalities and preconception genetic counseling Undiagnosed genetic diseases.” Specialties: Congenital malformations (dysmorphology) and chromosomal disorders Familial genetic disorders Genodermatosis, cardiogenetics and neurogenetics Growth and developmental delays/intellectual disabilities Metabolic disorders (inborn error of metabolism) Oncogenetics (inherited cancer syndromes) Prenatal genetic abnormalities and preconception genetic counseling Undiagnosed genetic diseases
Affiliation
Member of
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Clinical Program
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Research Department
Publications
Most Recent Publications
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2024Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ GENOMIC MEDICINE. 9.Full Text via DOI: 10.1038/s41525-024-00413-z PMID: 38531898
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2023The clinical and genetic spectrum of TRIO-gene related neurodevelopmental disorder. EPILEPSIA. 371-372.
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2022Clinical Characterization, Cancer Incidence and Long-Term Outcomes of Fanconi Anemia Patients : A Single Center Analysis of 97 Patients. BLOOD. 11471-11473.Full Text via DOI: 10.1182/blood-2022-162734
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2022DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation (vol 13, 612, 2012). NATURE IMMUNOLOGY. 815-815.Full Text via DOI: 10.1038/s41590-022-01180-8 PMID: 35332329
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2021Role of gene therapy in Fanconi anemia: A systematic and literature review with future directions.. Hematology/oncology and stem cell therapy. 290-301.Full Text via DOI: 10.1016/j.hemonc.2021.02.001 PMID: 33736979
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2021A novel claudin-10 mutation with a unique mechanism in two unrelated families with HELIX syndrome. KIDNEY INTERNATIONAL. 100:415-429.Full Text via DOI: 10.1016/j.kint.2021.02.023 PMID: 33675844
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2021Metabolomics Profiling of Cystic Renal Disease towards Biomarker Discovery. BIOLOGY-BASEL. 10.Full Text via DOI: 10.3390/biology10080770 PMID: 34440002
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2021Molecular classification of blood and bleeding disorder genes. NPJ GENOMIC MEDICINE. 6.Full Text via DOI: 10.1038/s41525-021-00228-2 PMID: 34272389
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2021Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease. ISCIENCE. 24.Full Text via DOI: 10.1016/j.isci.2021.102214 PMID: 33748703
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2021Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function. METABOLOMICS. 17.Full Text via DOI: 10.1007/s11306-020-01760-5 PMID: 33394183
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2021Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function. JOURNAL OF PROTEOME RESEARCH. 20:549-564.Full Text via DOI: 10.1021/acs.jproteome.0c00556 PMID: 33089695
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2021Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.. Frontiers in allergy. 774902.Full Text via DOI: 10.3389/falgy.2021.774902 PMID: 35386989
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2020Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions. ACTA HAEMATOLOGICA. 583-593.Full Text via DOI: 10.1159/000505715 PMID: 32541138
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2020Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 21.Full Text via DOI: 10.3390/ijms21197415 PMID: 33050003
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2020Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry. METABOLITES. 10.Full Text via DOI: 10.3390/metabo10100400 PMID: 33050140
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2020Selection, characterization, and electrochemical biosensing application of DNA aptamers for sepiapterin. TALANTA. 216.Full Text via DOI: 10.1016/j.talanta.2020.120951 PMID: 32456943
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2020A genomics approach to male infertility. GENETICS IN MEDICINE. 22:1967-1975.Full Text via DOI: 10.1038/s41436-020-0916-0 PMID: 32719396
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2020TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity. CLINICAL AND EXPERIMENTAL IMMUNOLOGY. 202:60-71.Full Text via DOI: 10.1111/cei.13484 PMID: 32691468
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2020Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 146:192-202.Full Text via DOI: 10.1016/j.jaci.2019.12.004 PMID: 31862378
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2020Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis. JOURNAL OF PROTEOME RESEARCH. 19:2346-2357.Full Text via DOI: 10.1021/acs.jproteome.0c00031 PMID: 32312052
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2020Familial emberger syndrome with autoimmunity, hyper-immunoglobulin E and lymphatic impairment caused by a novel GATA2 mutation.. Hematology/oncology and stem cell therapy.Full Text via DOI: 10.1016/j.hemonc.2020.05.004 PMID: 32497548
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2020Outcome of hematopoietic stem cell transplantation (HCT) from HLA-matched related donor for Fanconi anemia (FA) in adolescents and adults: a retrospective study by Eastern Mediterranean Blood and Marrow Transplantation Group (EMBMT). BONE MARROW TRANSPLANTATION. 1485-1490.Full Text via DOI: 10.1038/s41409-020-0809-5 PMID: 32024988
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2020Dexamethasone-Induced Perturbations in Tissue Metabolomics Revealed by Chemical Isotope Labeling LC-MS Analysis. METABOLITES. 10.Full Text via DOI: 10.3390/metabo10020042 PMID: 31973046
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2020New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia. OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY. 24:16-28.Full Text via DOI: 10.1089/omi.2019.0165 PMID: 31855513
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2019Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery. METABOLITES. 9.Full Text via DOI: 10.3390/metabo9110274 PMID: 31718082
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2019Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma.. ONCOTARGET. 5919-5931.Full Text via DOI: 10.18632/oncotarget.27194 PMID: 31666924
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2019Arterial tortuosity syndrome: 40 new families and literature review (vol 20, pg 1236, 2017). GENETICS IN MEDICINE. 1894-1895.Full Text via DOI: 10.1038/s41436-018-0035-3 PMID: 30201961
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2019Proteomic Analysis of Morphologically Changed Tissues after Prolonged Dexamethasone Treatment. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 20.Full Text via DOI: 10.3390/ijms20133122 PMID: 31247941
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2019Metabolomics toward personalized medicine. MASS SPECTROMETRY REVIEWS. 221-238.Full Text via DOI: 10.1002/mas.21548 PMID: 29073341
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2019Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients. ALLERGY. 74:370-379.Full Text via DOI: 10.1111/all.13610 PMID: 30252138
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2019The many faces of peroxisomal disorders: Lessons from a large Arab cohort. CLINICAL GENETICS. 95:310-319.Full Text via DOI: 10.1111/cge.13481 PMID: 30561787
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2018Carbon nanofiber-based multiplexed immunosensor for the detection of survival motor neuron 1, cystic fibrosis transmembrane conductance regulator and Duchenne Muscular Dystrophy proteins. BIOSENSORS & BIOELECTRONICS. 117:84-90.Full Text via DOI: 10.1016/j.bios.2018.05.048 PMID: 29890394
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2018Multiplexed detection of DOCK8, PGM3 and STAT3 proteins for the diagnosis of Hyper-Immunoglobulin E syndrome using gold nanoparticles-based immunosensor array platform. BIOSENSORS & BIOELECTRONICS. 117:613-619.Full Text via DOI: 10.1016/j.bios.2018.06.058 PMID: 30005381
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2018Arterial tortuosity syndrome: 40 new families and literature review. GENETICS IN MEDICINE. 1236-1245.Full Text via DOI: 10.1038/gim.2017.253 PMID: 29323665
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2018A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism. ANALYTICA CHIMICA ACTA. 1025:141-153.Full Text via DOI: 10.1016/j.aca.2018.03.058 PMID: 29801603
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2018Genetic investigation of 93 families with microphthalmia or posterior microphthalmos. CLINICAL GENETICS. 93:1210-1222.Full Text via DOI: 10.1111/cge.13239 PMID: 29450879
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2018High Incidence of Severe Combined Immunodeficiency Disease in Saudi Arabia Detected Through Combined T Cell Receptor Excision Circle and Next Generation Sequencing of Newborn Dried Blood Spots. FRONTIERS IN IMMUNOLOGY. 9.Full Text via DOI: 10.3389/fimmu.2018.00782 PMID: 29713328
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2018Electrochemical immunosensors for the detection of survival motor neuron (SMN) protein using different carbon nanomaterials-modified electrodes. BIOSENSORS & BIOELECTRONICS. 101:282-289.Full Text via DOI: 10.1016/j.bios.2017.10.015 PMID: 29096367
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2018Metabolomics Based Profiling of Dexamethasone Side Effects in Rats. FRONTIERS IN PHARMACOLOGY. 9.Full Text via DOI: 10.3389/fphar.2018.00046 PMID: 29503615
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2017HSP and deafness Neurocristopathy caused by a novel mosaic SOX10 mutation. NEUROLOGY-GENETICS. 3.Full Text via DOI: 10.1212/NXG.0000000000000151 PMID: 28534044
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2017Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid alpha-Glucosidase in Pompe Patients Co-administered with Alglucosidase alpha. MOLECULAR THERAPY. 25:1199-1208.Full Text via DOI: 10.1016/j.ymthe.2017.02.017 PMID: 28341561
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2017Hematopoietic stem cell transplantation corrects WIP deficiency. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 1039-1040.Full Text via DOI: 10.1016/j.jaci.2016.08.036 PMID: 27742395
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2016Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. NEW ENGLAND JOURNAL OF MEDICINE. 375:545-555.Full Text via DOI: 10.1056/NEJMoa1510198 PMID: 27509102
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2016Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 137:1780-1787.Full Text via DOI: 10.1016/j.jaci.2015.12.1310 PMID: 26915675
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2015The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 136:402-412.Full Text via DOI: 10.1016/j.jaci.2014.12.1945 PMID: 25724123
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2015Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease. NEUROMUSCULAR DISORDERS. 25:321-332.Full Text via DOI: 10.1016/j.nmd.2014.12.004 PMID: 25617983
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2015THPO-MPL pathway and bone marrow failure.. Hematology/oncology and stem cell therapy. 6-9.Full Text via DOI: 10.1016/j.hemonc.2014.11.005 PMID: 25482588
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2015Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 The ENGAGE Randomized Clinical Trial. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 313:695-706.Full Text via DOI: 10.1001/jama.2015.459 PMID: 25688781
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2014Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells. JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 134:1365-1374.Full Text via DOI: 10.1016/j.jaci.2014.07.042 PMID: 25218284
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2014Phenotypic variation of autosomal recessive pseudohypoaldosteronism type I: a case in point. CLINICAL CASE REPORTS. 2:326-330.Full Text via DOI: 10.1002/ccr3.129 PMID: 25548639
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2014Pompe Disease Literature Review and Case Series. NEUROLOGIC CLINICS. 751-+.Full Text via DOI: 10.1016/j.ncl.2014.04.010 PMID: 25037089
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2014Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. GENE. 535:70-78.Full Text via DOI: 10.1016/j.gene.2013.10.020 PMID: 24188901
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2014Confirmation and further delineation of the 3q26.33-3q27.2 microdeletion syndrome. EUROPEAN JOURNAL OF MEDICAL GENETICS. 57:76-80.Full Text via DOI: 10.1016/j.ejmg.2013.12.007 PMID: 24462885
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2014Flow cytometry biomarkers distinguish DOCK8 deficiency from severe atopic dermatitis. CLINICAL IMMUNOLOGY. 150:220-224.Full Text via DOI: 10.1016/j.clim.2013.12.006 PMID: 24440647
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2014Clinical report of a 17q12 microdeletion with additionally unreported clinical features.. Case reports in genetics. 264947.Full Text via DOI: 10.1155/2014/264947 PMID: 24991439
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2014Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?. Case reports in genetics. 127258.Full Text via DOI: 10.1155/2014/127258 PMID: 24778887
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2013Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia. BLOOD. 122:3440-3449.Full Text via DOI: 10.1182/blood-2012-12-473538 PMID: 24085763
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2013Recurrent agnathia-Otocephaly caused by DNA replication slippage in PRRX1. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 161A:803-808.Full Text via DOI: 10.1002/ajmg.a.35879 PMID: 23444262
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2012DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. NATURE IMMUNOLOGY. 13:612-+.Full Text via DOI: 10.1038/ni.2305 PMID: 22581261
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201214q32 deletion syndrome: a clinical report. CLINICAL DYSMORPHOLOGY. 42-44.Full Text via DOI: 10.1097/MCD.0b013e328348d8d0 PMID: 22143351
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2011Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: Implications for pathogenesis and potential detection by newborn screening. CLINICAL IMMUNOLOGY. 141:128-132.Full Text via DOI: 10.1016/j.clim.2011.06.003 PMID: 21763205
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2011The 3q29 Microdeletion Syndrome: Report of Three New Unrelated Patients and In Silico "RNA Binding'' Analysis of the 3q29 Region. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 155A:1654-1660.Full Text via DOI: 10.1002/ajmg.a.34080 PMID: 21626679
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2011Structural Chromosome Abnormalities Associated with Obesity: Report of Four New Subjects and Review of Literature. CURRENT GENOMICS. 190-203.PMID: 22043167
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2010Altered TGF beta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. EUROPEAN JOURNAL OF HUMAN GENETICS. 18:895-901.Full Text via DOI: 10.1038/ejhg.2010.45 PMID: 20389311
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2010Gentamicin-Induced Readthrough of Stop Codons in Duchenne Muscular Dystrophy. ANNALS OF NEUROLOGY. 67:771-780.Full Text via DOI: 10.1002/ana.22024 PMID: 20517938
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2010Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.. Human genetics. 109.Full Text via DOI: 10.1007/s00439-009-0757-z PMID: 19898871
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2010Novel human pathological mutations. Gene symbol: DMD. Disease: Muscular Dystrophy, Duchenne.. Human genetics. 109.PMID: 20108418
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2009DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. NEUROMUSCULAR DISORDERS. 19:743-748.Full Text via DOI: 10.1016/j.nmd.2009.08.010 PMID: 19793655
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2008Gene symbol: DMD. Disease: Muscular dystrophy, Duchenne.. Human genetics. 321.PMID: 18846679
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2008Gene symbol: ARX. Disease: Mental retardation.. Human genetics. 549.PMID: 20960639
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2008Gene symbol: MEN1. Disease: Multiple endocrine neoplasia 1.. Human genetics. 548-9.PMID: 20960638
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2007Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 143A:2635-2641.Full Text via DOI: 10.1002/ajmg.a.31980 PMID: 17937443
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2006Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: Clinical and laboratory aspects. CLINICAL BIOCHEMISTRY. 315-332.Full Text via DOI: 10.1016/j.clinbiochem.2005.12.009 PMID: 16563365
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2006A 9-year-old male with a duplication of chromosome 3p25.3p26.2: Clinical report and gene expression analysis. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 140A:573-579.Full Text via DOI: 10.1002/ajmg.a.31132 PMID: 16470700
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2005Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY. 16:2270-2278.Full Text via DOI: 10.1681/ASN.2004080667 PMID: 15930088
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2005Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. JOURNAL OF MEDICAL GENETICS. 42:318-321.Full Text via DOI: 10.1136/jmg.2004.024646 PMID: 15805158
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2005Fryns syndrome: Report of eight new cases. GENETICS IN MEDICINE. 74-76.PMID: 15654233
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2003Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. AMERICAN JOURNAL OF HUMAN GENETICS. 73:404-411.PMID: 12844284
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2003Coenzyme Q10 levels in Prader-Willi syndrome: Comparison with obese and non-obese subjects. AMERICAN JOURNAL OF MEDICAL GENETICS. 119A:168-171.Full Text via DOI: 10.1002/ajmg.a.10055 PMID: 12749057
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2003Five new subjects with ring chromosome 22. CLINICAL GENETICS. 63:410-414.PMID: 12752574
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2002Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene. AMERICAN JOURNAL OF MEDICAL GENETICS. 108:219-222.Full Text via DOI: 10.1002/ajmg.10217 PMID: 11891689
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2002A 9-month-old baby with subdural hematomas, retinal hemorrhages, and developmental delay. PEDIATRIC EMERGENCY CARE. 18:44-47.PMID: 11862140
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2001Podocyte proteins in Galloway-Mowat syndrome. PEDIATRIC NEPHROLOGY. 16:1022-1029.PMID: 11793093
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2001Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. PEDIATRIC RESEARCH. 49:18-23.PMID: 11134486
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2000Identification of a novel mutation in patients with medium-chain Acyl-CoA dehydrogenase deficiency. MOLECULAR GENETICS AND METABOLISM. 69:259-262.PMID: 10767181
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1999Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Variable expressivity of maternal illness during pregnancy and unusual presentation with infantile cholestasis and hypocalcaemia. JOURNAL OF INHERITED METABOLIC DISEASE. 22:811-814.PMID: 10518281
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1999PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. HUMAN MOLECULAR GENETICS. 8:1461-1472.PMID: 10400993
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1998Lack of chromosome 15q11-q13 region involvement in a family with Cowden disease/Bannayan-Zonana syndrome. JOURNAL OF GASTROENTEROLOGY. 928-929.PMID: 9853579
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1998Heterogeneity in hereditary pancreatitis. AMERICAN JOURNAL OF MEDICAL GENETICS. 77:47-53.PMID: 9557894
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1997DiGeorge anomaly and chromosome 10p deletions: One or two loci?. AMERICAN JOURNAL OF MEDICAL GENETICS. 73:72-75.PMID: 9375926
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1996Human selenoprotein P gene maps to 5q31. GENOMICS. 36:550-551.PMID: 8884283
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1996Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. CYTOGENETICS AND CELL GENETICS. 72:252-254.PMID: 8978789
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1995ASSIGNMENT OF THE GENE (GLCLC) THAT ENCODES THE HEAVY SUBUNIT OF GAMMA-GLUTAMYLCYSTEINE SYNTHETASE TO HUMAN-CHROMOSOME-6. CYTOGENETICS AND CELL GENETICS. 70:278-279.PMID: 7789189
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1995PHYSICAL AND LINKAGE MAPPING OF HUMAN CARBAMYL-PHOSPHATE SYNTHETASE (CPS1) AND REASSIGNMENT FROM 2P TO 2Q35. CYTOGENETICS AND CELL GENETICS. 71:266-267.PMID: 7587391
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1994AUTOSOMAL RECESSIVE ATAXIA, SLOW EYE-MOVEMENTS AND PSYCHOMOTOR RETARDATION. JOURNAL OF THE NEUROLOGICAL SCIENCES. 124:61-66.PMID: 7931423
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1994PALLIDO-PYRAMIDAL DEGENERATION, SUPRANUCLEAR UPGAZE PARESIS AND DEMENTIA - KUFOR-RAKEB SYNDROME. ACTA NEUROLOGICA SCANDINAVICA. 89:347-352.PMID: 8085432
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1990USE OF A PROBE FOR THE PUTATIVE SEX DETERMINING GENE, ZINC FINGER Y, IN THE STUDY OF PATIENTS WITH AMBIGUOUS GENITALIA AND XY GONADAL-DYSGENESIS. AMERICAN JOURNAL OF MEDICAL GENETICS. 36:232-236.PMID: 2368811
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1988TRANSLOCATION (1-22) IN A CHILD WITH BILATERAL OBLIQUE FACIAL CLEFTS. JOURNAL OF MEDICAL GENETICS. 25:427-431.PMID: 3398011
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1988CLARIFICATION OF CHROMOSOMAL-ABNORMALITIES ASSOCIATED WITH SEXUAL AMBIGUITY BY STUDIES WITH Y-CHROMOSOMAL DNA-SEQUENCES. CYTOGENETICS AND CELL GENETICS. 47:140-143.PMID: 2837364
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1987TRISOMY-18 AND HEPATIC NEOPLASIA. AMERICAN JOURNAL OF MEDICAL GENETICS. 203-205.PMID: 3037903
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1987CELL-SPECIFIC RIBOSOMAL DNA SPACER VARIABILITY IN HUMAN UROTHELIAL CARCINOMA CULTURES. JOURNAL OF UROLOGY. 137:324-326.PMID: 2879945
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19873-HYDROXY-3-METHYLGLUTARIC ACIDURIA - RESPONSE TO CARNITINE THERAPY AND FAT AND LEUCINE RESTRICTION. JOURNAL OF INHERITED METABOLIC DISEASE. 10:142-146.PMID: 2443756
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1986ZELLWEGER SYNDROME - DIAGNOSTIC ASSAYS, SYNDROME DELINEATION, AND POTENTIAL THERAPY. AMERICAN JOURNAL OF MEDICAL GENETICS. 24:69-82.PMID: 3146301
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1985CEREBRAL ATROPHY, MACROSOMIA, AND CUTANEOUS TELANGIECTASIA IN GM1 GANGLIOSIDOSIS. JOURNAL OF PEDIATRICS. 644-645.PMID: 3930682
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1985FURTHER DELINEATION OF THE DUP(3Q) SYNDROME. AMERICAN JOURNAL OF MEDICAL GENETICS. 22:117-123.PMID: 4050847
Background
Full Name
- Majed Dasouki, MD
Education
- University of Jordan, Amman, Jordan
Residency
- Pediatrics at University of Minnesota, Minneapolis, MN Pediatrics at University of Oklahoma, Oklahoma City, OK
Fellowship
- Biochemical Genetics at University of Missouri-Columbia, MO Pediatric Genetics at University of Michigan, Ann Arbor, MI
Board Certification
- Clinical Genetics (M.D.): American Board of Medical Genetics and Genomics Clinical Cytogenetic: American Board of Medical Genetics and Genomics
Contact
primary email
- Research.Institute@AdventHealth.com