Ayman W. El-Hattab

Dr. Ayman W. El-Hattab

Consultant Clinical Genetics

Genetic Counseling and Testing  15+Years of Experience Jordan Arabic, English Burjeel Medical City

Dr. Ayman El-Hattab is a Consultant Clinical Genetics. He earned his Bachelor’s Degree of Science in Medicine and Surgery from Jordan in 2002. He then continued his training in the USA and obtained the American Boards of Clinical Genetics and Biochemical Genetics. With more than 15 years of experience in the field of genetics, Dr. Ayman El-Hattab has served in various key roles throughout his career. Before joining the Burjeel family, he worked at renowned institutes in the US, Saudi Arabia, and the United Arab Emirates. He has also served as a professor at a reputed college in Sharjah. Additionally, he is the Founder and President of the MENA Organization for Rare Diseases, Chief Author for Genetics at SimulConsult (Diagnostic Decision Support System) in Massachusetts, USA, and Consulting Editor for GeneReviews at University of Washington in Seattle, USA. Dr. Ayman El-Hattab is a member of various scientific societies and medical committees and has numerous publications to his name. He has also received various awards and achievements. 

  • American Society of Human Genetics (ASHG), USA - 2008 – Present
  • United Mitochondrial Disease Foundation (UMDF), USA - 2009 – Present
  • Fellow of the American Academy of Pediatrics (AAP), USA - 2012 – Present
  • Fellow of the American College of Medical Genetics (ACMG), USA - 2013 – Present
  • European Society of Human Genetics (ESHG), Vienna, Austria - 2013 – Present
  • Member of the Society for the Study of Inborn Errors of Metabolism (SSIEM), London, UK - 2013 – Present
  • Saudi Society of Medical Genetics (SSMG), Saudi Arabia - 2017 – Present
  • Society for Inherited Metabolic Disorders (SIMD), USA - 2020 – Present
  • Scientific Board Member of the Middle East Genetic and Metabolic Academy (MEGMA), Saudi Arabia
  • Membership in Committees - 11/2020 – Present
  • Student Advising Committee, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates - 03/2021 – Present
  • Cardiovascular Research Group, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates - 01/2022 – Present
  • Rare Genetic Disorders Research Group, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates
  • Member of the Biomedical Sciences Department Advisory Board, College of Health Sciences, Abu Dhabi University, Abu Dhabi, United Arab Emirates
  • Bachelor’s Degree of Science in Medicine and Surgery, Jordan University of Science and Technology, Irbid, Jordan - 2002
  • Internship in Medicine, Surgery, Obstetric, and Pediatrics, the Ministry of Health hospitals, Irbid, Jordan - 2003
  • Pediatric Residency, Jordan University of Science and Technology/King Abdullah University Hospital, Irbid, Jordan - 2005
  • Pediatric Residency, SUNY Downstate Medical Center, Brooklyn, New York, USA - 2008
  • Clinical Genetics Fellowship, Baylor College of Medicine, Houston, Texas, USA – 2010
  • Medical Biochemical Genetics Fellowship, Baylor College of Medicine, Houston, Texas, USA - 2022
  • El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009;126(4):589-602. http://www.ncbi.nlm.nih.gov/pubmed/19557438
  • El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010;12(1):19-24. http://www.ncbi.nlm.nih.gov/pubmed/20027113
  • El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010;99(3):300-308. http://www.ncbi.nlm.nih.gov/pubmed/20074988
  • El-Hattab AW, Skorupski JC, Hsieh MH, Breman AM, Patel A, Cheung SW, Craigen WJ. OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010;152A(2):504-11. http://www.ncbi.nlm.nih.gov/pubmed/20101692
  • Li FY, El-Hattab AW, Bawle E, Boles RG, Schmitt E, Scaglia F, Wong LJ. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010;31(8) . http://www.ncbi.nlm.nih.gov/pubmed/20574985
  • El-Hattab AW, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. Clin Genet. 2011;79(6):531-538. http://www.ncbi.nlm.nih.gov/pubmed/20662849
  • El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW. Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010;12(9):573-586. http://www.ncbi.nlm.nih.gov/pubmed/20860070
  • Sadikovic B, Wang J, El-Hattab A, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010;5(12) . http://www.ncbi.nlm.nih.gov/pubmed/21187929
  • Fruhman G, El-Hattab AW, Belmont JW, Patel A, Cheung SW, Sutton VR. Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011;155(2):434-438. http://www.ncbi.nlm.nih.gov/pubmed/21271668
  • El-Hattab AW, Fang P, Jin W, Hughes JR, Gibson J, Patel GS, Grange DK, Manwaring L, Patel A, Stankiewicz P, Cheung SW. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48(12):840-850. http://www.ncbi.nlm.nih.gov/pubmed/21984752
  • Magoulas PL, El-Hattab AW. Chromosome 15q24 microdeletion syndrome. Orphanet J Rare Dis. 2012;7(1):2. http://www.ncbi.nlm.nih.gov/pubmed/22216833
  • Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: A case report and review. Hum Pathol. 2012;43(6):943-951. http://www.ncbi.nlm.nih.gov/pubmed/22305237
  • El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012;105(4):607-614. http://www.ncbi.nlm.nih.gov/pubmed/22325939
  • El-Hattab AW. Systemic Primary Carnitine Deficiency. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2012 Mar 15. http://www.ncbi.nlm.nih.gov/pubmed/22420015
  • Lee IC*, El-Hattab AW*, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. SURF1-associated Leigh syndrome: A case-series and novel mutations. Hum Mutat. 2012;33(8):1192-1200. (*These two authors contributed equally to this work) http://www.ncbi.nlm.nih.gov/pubmed/22488715
  • El-Hattab AW, Scaglia F, Craigen WJ, Wong L-JC. MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2012 May 17. http://www.ncbi.nlm.nih.gov/pubmed/22593919
  • El-Hattab AW, Emrick LT, Craigen WJ, Scaglia F. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab. 2012;107(3):247-252. http://www.ncbi.nlm.nih.gov/pubmed/22819233
  • Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: An overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;7(1):68. http://www.ncbi.nlm.nih.gov/pubmed/22989098
  • Magoulas PL, El-Hattab AW. Glycogen Storage Disease Type IV. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2013 Jan 3. http://www.ncbi.nlm.nih.gov/pubmed/23285490
  • Segal MM, Williams MS, Gropman AL, Torres AR, Forsyth R, Connolly AM, El-Hattab AW, Perlman SJ, Samanta D, Parikh S, Pavlakis SG, Feldman LK, Betensky RA, Gospe SM Jr. Evidence-Based Decision Support for Neurological Diagnosis Reduces Errors and Unnecessary Workup. J Child Neurol. 2014;29(4):487-92. http://www.ncbi.nlm.nih.gov/pubmed/23576414
  • El-Hattab AW, Scaglia F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics. 2013;10(2):186-198. http://www.ncbi.nlm.nih.gov/pubmed/23385875
  • El-Hattab AW, Emrick L, K. Williamson K, Craigen W, Scaglia F. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene. 2013;1:8-14. http://www.ncbi.nlm.nih.gov/pubmed/25411654
  • Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure. J Pediatr. 2014;164(3):553-559. http://www.ncbi.nlm.nih.gov/pubmed/24321534
  • El-Hattab AW, Emrick LT, Chanprasert S, Craigen WJ, Scaglia F. Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome. Int J Biochem Cell Biol. 2014;48:85-91. http://www.ncbi.nlm.nih.gov/pubmed/24412347
  • Meilleur KG, Zukosky K, Medne L, Fequiere P, Powell-Hamilton N, Winder TL, Alsaman A, El-Hattab AW, Dastgir J, Hu Y, Donkervoort S, Golden JA, Eagle R, Finkel R, Scavina M, Hood IC, Rorke-Adams LB, Bönnemann CG. Clinical, pathologic, and mutational spectrum of dystroglycanopathy caused by LARGE mutations. J Neuropathol Exp Neurol. 2014;73(5):425-41. http://www.ncbi.nlm.nih.gov/pubmed/24709677
  • Segal MM, Abdellateef M, El-Hattab AW, Hilbush BS, De La Vega FM, Tromp G, Williams MS, Betensky RA, Gleeson J. Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis. J Child Neurol. 2015;30(7):881-888. http://www.ncbi.nlm.nih.gov/pubmed/25156663 El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation. Mitochondrion. 2014;18:63-69. http://www.ncbi.nlm.nih.gov/pubmed/25086207
  • El-Hattab AW, Schaaf CP, Fang P, Roeder E, Kimonis VE, Church JA, Patel A, Cheung SW. Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review. BMC Med Genet. 2015;16:12. http://www.ncbi.nlm.nih.gov/pubmed/25927380
  • El-Hattab AW. Inborn Errors of Metabolism. Clin Perinatol. 2015;42(2):413-439. http://www.ncbi.nlm.nih.gov/pubmed/26042912
  • El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015;116(1-2):4-12. http://www.ncbi.nlm.nih.gov/pubmed/26095523
  • El-Hattab AW, Scaglia F. Disorders of carnitine biosynthesis and transport. Mol Genet Metab. 2015;116(3):107-112. http://www.ncbi.nlm.nih.gov/pubmed/26385306
  • Bayram Y, Karaca E, Coban Akdemir Z, Yilmaz EO, Tayfun GA, Aydin H, Torun D, Bozdogan ST, Gezdirici A, Isikay S, Atik MM, Gambin T, Harel T, El-Hattab AW, Charng WL, Pehlivan D, Jhangiani SN, Muzny DM, Karaman A, Celik T, Yuregir OO, Yildirim T, Bayhan IA, Boerwinkle E, Gibbs RA, Elcioglu N, Tuysuz B, Lupski JR. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest. 2016;126(2):762-78. http://www.ncbi.nlm.nih.gov/pubmed/26752647
  • El-Hattab AW, Saleh MA, Hashem A, Al-Owain M, Asmari AA, Rabei H, Abdelraouf H, Hashem M, Alazami AM, Patel N, Shaheen R, Faqeih EA, Alkuraya FS. ADAT3-related intellectual disability: Further delineation of the phenotype. Am J Med Genet A. 2016;170(5):1142-1147. http://www.ncbi.nlm.nih.gov/pubmed/26842963
  • El-Hattab AW, Emrick LT, Hsu JW, Chanprasert S, Almannai M, Craigen WJ, Jahoor F, Scaglia F. Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. Mol Genet Metab. 2016;117(4):407-412. http://www.ncbi.nlm.nih.gov/pubmed/26851065
  • Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016;98(3):562-570. http://www.ncbi.nlm.nih.gov/pubmed/26942288
  • El-Hattab AW, Shaheen R, Hertecant J, Galadari HI, Albaqawi BS, Nabil A, Alkuraya FS. On the phenotypic spectrum of serine biosynthesis defects. J Inherit Metab Dis. 2016;39(3):373-381. https://www.ncbi.nlm.nih.gov/pubmed/26960553
  • El-Hattab AW, Schaaf CP, Cheung SW. Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated. 2016 Mar 10. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. https://www.ncbi.nlm.nih.gov/pubmed/26962617
  • El-Hattab AW, Scaglia F. Mitochondrial cytopathies. Cell Calcium. 2016;60(3):199-206. https://www.ncbi.nlm.nih.gov/pubmed/26996063
  • El-Hattab AW. Serine biosynthesis and transport defects. Mol Genet Metab. 2016;118(3):153-159. https://www.ncbi.nlm.nih.gov/pubmed/27161889
  • El-Hattab AW, Scaglia F. SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2016 Jun 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. http://www.ncbi.nlm.nih.gov/pubmed/20301762
  • Charng WL, Karaca E, Coban Akdemir Z, Gambin T, Atik MM, Gu S, Posey JE, Jhangiani SN, Muzny DM, Doddapaneni H, Hu J, Boerwinkle E, Gibbs RA, Rosenfeld JA, Cui H, Xia F, Manickam K, Yang Y, Faqeih EA, Al Asmari A, Saleh MA, El-Hattab AW, Lupski JR. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate. BMC Med Genomics. 2016;9(1):42. http://www.ncbi.nlm.nih.gov/pubmed/27435318
  • Shaheen R, Al-Salam Z, El-Hattab AW, Alkuraya FS. The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients. Am J Med Genet A. 2016;170(12):3222-3226. http://www.ncbi.nlm.nih.gov/pubmed/27480277
  • El-Hattab AW, Scaglia F. Mitochondrial Cardiomyopathies. Front Cardiovasc Med. 2016;3:25. http://www.ncbi.nlm.nih.gov/pubmed/27504452
  • Al Kaabi EH, El-Hattab AW. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. Mol Genet Metab Rep. 2016;8:94-98. http://www.ncbi.nlm.nih.gov/pubmed/27570737
  • Alabdullatif MA, Al Dhaibani MA, Khassawneh MY, El-Hattab AW. Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations. Clin Genet. 2017;91:616-622. https://www.ncbi.nlm.nih.gov/pubmed/27717089
  • Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ. FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 2017;91:634-639. https://www.ncbi.nlm.nih.gov/pubmed/27743463
  • El-Hattab AW. Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?". Int J Cardiol. 2017;229:228. https://www.ncbi.nlm.nih.gov/pubmed/27986282
  • El-Hattab AW, Scaglia F, Wong LJ. Deoxyguanosine Kinase Deficiency. 2009 Jun 18 [Updated 2016 Dec 22]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. https://www.ncbi.nlm.nih.gov/pubmed/20301766
  • Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MA, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. Am J Hum Genet. 2017;100:117-127. https://www.ncbi.nlm.nih.gov/pubmed/28017373
  • Benke PJ, Hidalgo RJ, Braffman BH, Jans J, van Gassen KL, Sunbul R, El-Hattab AW. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency. J Child Neurol. 2017 May;32(6):543-549. https://www.ncbi.nlm.nih.gov/pubmed/28135894 El-Hattab AW, Craigen WJ, Scaglia F. Mitochondrial DNA maintenance defects. Biochim Biophys Acta. 2017 Jun;1863(6):1539-1555. https://www.ncbi.nlm.nih.gov/pubmed/28215579
  • El-Hattab AW, Scaglia F. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria. 2017 Mar 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. https://www.ncbi.nlm.nih.gov/pubmed/28358460
  • Almannai M, Dai H, El-Hattab AW, et al. FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. 2017 Apr 6. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. https://www.ncbi.nlm.nih.gov/pubmed/28383868
  • Suleiman J, Allingham-Hawkins D, Hashem M, Shamseddin H, Alkuraya FS, El-Hattab AW. WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: a consistent neurodevelopmental syndrome. Clin Genet. 2018 Feb;93(2):360-364. https://www.ncbi.nlm.nih.gov/pubmed/28503735
  • El-Hattab AW, Jahoor F. Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique. J Nutr. 2017 Jul;147(7):1251-1257. https://www.ncbi.nlm.nih.gov/pubmed/28515163
  • Schiess N, Zee DS, Siddiqui KA, Szolics M, El-Hattab AW. Novel PNKP mutation in siblings with ataxia-oculomotor apraxia type 4. J Neurogenet. 2017 Mar - Jun;31(1-2):23-25. https://www.ncbi.nlm.nih.gov/pubmed/28552035
  • Almusafri F, Elamin HE, Khalaf TE, Ali A, Ben-Omran T, El-Hattab AW. Clinical and molecular characterization of 6 children with glutamate-cysteine ligase deficiency causing hemolytic anemia. Blood Cells Mol Dis. 2017 Jun;65:73-77. https://www.ncbi.nlm.nih.gov/pubmed/28571779
  • El-Hattab AW, Almannai M, Scaglia F. Arginine and citrulline for the treatment of MELAS syndrome. J Inborn Errors Metab Screen. 2017 Jan;5. https://www.ncbi.nlm.nih.gov/pubmed/28736735
  • El-Hattab AW, Jahoor F. The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome. Int J Cardiol. 2018 Mar 1;254:282. https://www.ncbi.nlm.nih.gov/pubmed/28843720
  • Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S, Alhashem A, Shamseldin HE, AlZahrani F, Patel N, Ibrahim N, Abdulwahab FM, Hashem M, Alhashmi N, Al Murshedi F, Al Kindy A, Alshaer A, Rumayyan A, Al Tala S, Kurdi W, Alsaman A, Alasmari A, Banu S, Sultan T, Saleh MM, Alkuraya H, Salih MA, Aldhalaan H, Ben-Omran T, Al Musafri F, Ali R, Suleiman J, Tabarki B, El-Hattab AW, Bupp C, Alfadhel M, Al Tassan N, Monies D, Arold ST, Abouelhoda M, Lashley T, Houlden H, Faqeih E, Alkuraya FS. Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017 Nov;136(11-12):1419-1429. https://www.ncbi.nlm.nih.gov/pubmed/28940097
  • El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 Dec;38(12):1649-1659. https://www.ncbi.nlm.nih.gov/pubmed/28940506
  • El-Hattab AW, Zarante AM, Almannai M, Scaglia F. Therapies for mitochondrial diseases and current clinical trials. Mol Genet Metab. 2017 Nov;122(3):1-9. https://www.ncbi.nlm.nih.gov/pubmed/28943110
  • Al Dhaibani MA, Allingham-Hawkins D, El-Hattab AW. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report. BMC Med Genet. 2017 Oct 23;18(1):118. https://www.ncbi.nlm.nih.gov/pubmed/29061174
  • Wessel K, Suleiman J, Khalaf TE, Kishore S, Rolfs A, El-Hattab AW. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. BMC Med Genet. 2017 Oct 25;18(1):119. https://www.ncbi.nlm.nih.gov/pubmed/29070031
  • Al Harbi MS, El-Hattab AW. Protein C Deficiency Caused by a Novel Mutation in the PROC Gene in an Infant with Delayed Onset Purpura Fulminans. Case Rep Dermatol Med. 2017;2017:8915608. https://www.ncbi.nlm.nih.gov/pubmed/29082047
  • Al Dhaibani MA, El-Hattab AW, Holroyd KB, Orthmann-Murphy J, Larson VA, Siddiqui KA, Szolics M, Schiess N. Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities. J Neurogenet. 2018 Mar;32(1):1-5. https://www.ncbi.nlm.nih.gov/pubmed/29191078
  • Al Mutairi F, Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T, Hertecant J, Eyaid W, Ali R, Alasmari A, Kara M, Al-Twaijri W, Filimban R, Alshenqiti A, Al-Owain M, Faqeih E, Alkuraya FS. Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. Pediatr Neurol. 2018 Jan;78:35-40. https://www.ncbi.nlm.nih.gov/pubmed/29239743
  • Glinton KE, Benke PJ, Lines MA, Geraghty MT, Chakraborty P, Al-Dirbashi OY, Jiang Y, Kennedy AD, Grotewiel MS, Sutton VR, Elsea SH, El-Hattab AW. Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling. Mol Genet Metab. 2018 Mar;123(3):309-316. https://www.ncbi.nlm.nih.gov/pubmed/29269105
  • El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin H, Wong LC. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 Apr;39(4):461-470. https://www.ncbi.nlm.nih.gov/pubmed/29282788
  • Schiess N, Huether K, Szolics M, Agarwal G, El-Hattab AW, Sathe S. Multiple sclerosis or "inflammatory CADASIL?": Case Report and review of the literature. Clin Neurol Neurosurg. 2018 Oct;173:196-199. https://www.ncbi.nlm.nih.gov/pubmed/29449082
  • Almannai M, El-Hattab AW. Inborn Errors of Metabolism with Seizures: Defects of Glycine and Serine Metabolism and Cofactor-Related Disorders. Pediatr Clin North Am. 2018 Apr;65(2):279-299. https://www.ncbi.nlm.nih.gov/pubmed/29502914
  • El-Hattab AW, Sutton VR. Newborn Screening: History, Current Status, and Future Directions. Pediatr Clin North Am. 2018 Apr;65(2):389-405. https://www.ncbi.nlm.nih.gov/pubmed/29502920
  • El-Hattab AW, Sutton VR. Approach to Inborn Errors of Metabolism in Pediatrics. Pediatr Clin North Am. 2018 Apr;65(2) . https://www.ncbi.nlm.nih.gov/pubmed/29502921
  • El-Hattab AW, Craigen WJ, Wong LJC, et al. Mitochondrial DNA Maintenance Defects Overview. 2018 Mar 8. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/pubmed/29517884
  • Suleiman J, Mundt M, Sampath S, El-Hattab AW. TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies. Clin Genet. 2018 Jul;94(1):170-173. https://www.ncbi.nlm.nih.gov/pubmed/29633245
  • Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. Mol Genet Metab. 2018 Jun;124(2):124-130. https://www.ncbi.nlm.nih.gov/pubmed/29735374
  • Al Dhaibani MA, El-Hattab AW, Ismayl O, Suleiman J. B3GALNT2-Related Dystroglycanopathy: Expansion of the Phenotype with Novel Mutation Associated with Muscle-Eye-Brain Disease, Walker-Warburg Syndrome, Epileptic Encephalopathy-West Syndrome, and Sensorineural Hearing Loss. Neuropediatrics. 2018 Aug;49(4):289-295. https://www.ncbi.nlm.nih.gov/pubmed/29791932
  • Suleiman J, Al Hashem AM, Tabarki B, Al-Thihli K, Bi W, El-Hattab AW. PPP1R21 homozygous null variants associated with developmental delay, muscle weakness, distinctive facial features, and brain abnormalities. Clin Genet. 2018 Oct;94(3-4):351-355. https://www.ncbi.nlm.nih.gov/pubmed/29808498
  • Suleiman J, Hamwi N, El-Hattab AW. ATP13A2 novel mutations causing a rare form of juvenile-onset Parkinson disease. Brain Dev. 2018 Oct;40(9):824-826. https://www.ncbi.nlm.nih.gov/pubmed/29903538
  • Almannai M, El-Hattab AW, Scaglia F. Mitochondrial DNA replication: clinical syndromes. Essays Biochem. 2018 Jul 20;62(3):297-308. https://www.ncbi.nlm.nih.gov/pubmed/29950321
  • El-Hattab AW, Wang J, Wong LJ. Extra-muscular manifestations of TK2 deficiency. Mol Genet Metab Rep. 2018 Sep;16:30. https://www.ncbi.nlm.nih.gov/pubmed/30013933
  • Wang J, El-Hattab AW, Wong LJC. TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form. 2012 Dec 6 [Updated 2018 Jul 26]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/pubmed/23230576
  • Suleiman J, El-Hattab AW. ATP13A2-related juvenile-onset Parkinson disease. Brain Dev. 2019 Feb;41(2):223. https://www.ncbi.nlm.nih.gov/pubmed/30144971
  • Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab. 2018 Nov;125(3):281-291. https://www.ncbi.nlm.nih.gov/pubmed/30177229
  • Alfadhel M, El-Hattab AW. Asparagine Synthetase Deficiency. 2018 Sep 20. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. https://www.ncbi.nlm.nih.gov/pubmed/30234940
  • El-Hattab AW, Suleiman J, Almannai M, Scaglia F. Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases. Mol Genet Metab. 2018 Dec;125(4):315-321. https://www.ncbi.nlm.nih.gov/pubmed/30361041
  • Shaukat Q, Hertecant J, El-Hattab AW, Ali BR, Suleiman J. West syndrome, developmental and epileptic encephalopathy, and severe CNS disorder associated with WWOX mutations. Epileptic Disord. 2018 Oct 1;20(5):401-412. https://www.ncbi.nlm.nih.gov/pubmed/30361190
  • Chan TK, Al Kaabi MK, ElBarky AM, El-Hattab AW. LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome. Clin Genet. 2019 Feb;95(2):325-328. https://www.ncbi.nlm.nih.gov/pubmed/30362103
  • El-Hattab AW, Almannai M, Scaglia F. MELAS. 2001 Feb 27 [Updated 2018 Nov 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. https://www.ncbi.nlm.nih.gov/pubmed/20301411
  • Mu W, Schiess N, Orthmann-Murphy JL, El-Hattab AW. The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population. J Neurogenet. 2019 Mar;33(1):21-26. https://www.ncbi.nlm.nih.gov/pubmed/30724636
  • Ballout RA, Al Alam C, Bonnen PE, Huemer M, El-Hattab AW, Shbarou R. FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report with a Comprehensive Mutation Review. Front Genet. 2019 Feb 5;10:39. https://www.ncbi.nlm.nih.gov/pubmed/30804983
  • Almannai M, Faqeih E, El-Hattab AW, Wong LJC. FARS2 Deficiency. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. 2019 Mar 14. https://www.ncbi.nlm.nih.gov/pubmed/30869852
  • Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. 6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects. Pediatr Neurol. 2019 Jul;96:40-47. https://www.ncbi.nlm.nih.gov/pubmed/30926181
  • Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies. Hum Mutat. 2019 Nov;40:1985-1992. https://www.ncbi.nlm.nih.gov/pubmed/31209944
  • Almannai M, Alfadhel M, El-Hattab AW. Carnitine Inborn Errors of Metabolism. Molecules. 2019 Sep 6;24(18). https://www.ncbi.nlm.nih.gov/pubmed/31500110
  • Beetz C, Ameziane N, Kdissa A, Karageorgou V, Bauer P, Suleiman J, Sutton VR, El-Hattab AW. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features. Clin Genet. 2020 Apr;97(4):644-648. https://www.ncbi.nlm.nih.gov/pubmed/31845315
  • Ballout RA, Dickerson C, Wick MJ, Al-Sweel N, Openshaw AS, Srivastava S, Swanson LC, Bramswig NC, Kuechler A, Hong B, Fleming LR, Curry K, Robertson SP, Andersen EF, El-Hattab AW. Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features. Hum Mutat. 2020 Jul;41(7):1238-1249. https://www.ncbi.nlm.nih.gov/pubmed/32112660
  • Al Jasmi F, Al Zaabi N, Al-Thihli K, Al Teneiji AM, Hertecant J, El-Hattab AW. Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents with Mitochondrial Diseases. J Cent Nerv Syst Dis. 2020 Feb 29;12:1179573520909377. https://www.ncbi.nlm.nih.gov/pubmed/32165851
  • Marafi D, Mitani T, Isikay S, Hertecant J, Almannai M, Manickam K, Abou Jamra R, El-Hattab AW, Rajah J, Fatih JM, Du H, Karaca E, Bayram Y, Punetha J, Rosenfeld JA, Jhangiani SN, Boerwinkle E, Akdemir ZC, Erdin S, Hunter JV, Gibbs RA, Pehlivan D, Posey JE, Lupski JR. Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy. Ann Clin Transl Neurol. 2020 May;7(5):610-627. https://www.ncbi.nlm.nih.gov/pubmed/32286009
  • Segal MM, George R, Waltman P, El-Hattab AW, James KN, Stanley V, Gleeson J. Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians. Orphanet J Rare Dis. 2020 Jul 22;15(1):191. https://pubmed.ncbi.nlm.nih.gov/32698834/
  • Arora V, Khan S, El-Hattab AW, Dua Puri R, Rocha ME, Merdzanic R, Paknia O, Beetz C, Rolfs A, Bertoli-Avella AM, Bauer P, Verma IC. Biallelic Pathogenic GFRA1 Variants Cause Autosomal Recessive Bilateral Renal Agenesis. J Am Soc Nephrol. 2021 Jan;32(1):223-228. https://pubmed.ncbi.nlm.nih.gov/33020172/
  • Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F. Clinical trials in mitochondrial disorders, an update. Mol Genet Metab. 2020 Sep-Oct;131(1-2):1-13. https://pubmed.ncbi.nlm.nih.gov/33129691/
  • Ballout RA, El-Hattab AW. The int22h1/int22h2-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer. Genes (Basel). 2021 Jun 4;12(6):860. https://pubmed.ncbi.nlm.nih.gov/34199727/
  • Almannai M, Al Mahmoud RA, Mekki M, El-Hattab AW. Metabolic Seizures. Front Neurol. 2021 Jul 6;12:640371. https://pubmed.ncbi.nlm.nih.gov/34295297/
  • Almannai M, El-Hattab AW. Nitric Oxide Deficiency in Mitochondrial Disorders: The Utility of Arginine and Citrulline. Front Mol Neurosci. 2021 Aug 5;14:682780. https://pubmed.ncbi.nlm.nih.gov/34421535/
  • Salah A, Almannai M, Al Ojaimi M, Radefeldt M, Gulati N, Iqbal M, Alawbathani S, Al-Ali R, Beetz C, El-Hattab AW. A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features. Clin Genet. 2022 May;101(5-6):565-570. https://pubmed.ncbi.nlm.nih.gov/35229282/
  • Almannai M, Marafi D, Abdel-Salam GMH, Zaki MS, Duan R, Calame D, Herman I, Levesque F, Elbendary HM, Hegazy I, Chung WK, Kavus H, Saeidi K, Maroofian R, AlHashim A, Al-Otaibi A, Al Madhi A, Abou Al-Seood HM, Alasmari A, Houlden H, Gleeson JG, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype. Clin Genet. 2022 May;101(5-6):530-540. https://pubmed.ncbi.nlm.nih.gov/35322404/
  • Riedhammer KM, Burgemeister AL, Cantagrel V, Amiel J, Siquier K, Boddaert N, Hertecant J, Kannouche PL, Pouvelle C, Htun S, Slavotinek AM, Beetz C, Diego-Alvarez D, Kampe K, Fleischer N, Awamleh Z, Weksberg R, Kopajtich R, Meitinger T, Suleiman J, El-Hattab AW. Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency. Hum Mol Genet. 2022 Sep 10;31(18):3083-3094. https://pubmed.ncbi.nlm.nih.gov/35512351/
  • Al Ojaimi M, Banimortada BJ, Othman A, Riedhammer KM, Almannai M, El-Hattab AW. Disorders of histone methylation: Molecular basis and clinical syndromes. Clin Genet. 2022 Sep;102(3):169-181. https://pubmed.ncbi.nlm.nih.gov/35713103/
  • Almannai M, Salah A, El-Hattab AW. Mitochondrial Membranes and Mitochondrial Genome: Interactions and Clinical Syndromes. Membranes (Basel). 2022 Jun 15;12(6):625. https://pubmed.ncbi.nlm.nih.gov/35736332/
  • Almannai M, El-Hattab AW, Azamian MS, Ali M, Scaglia F. Mitochondrial DNA maintenance defects: potential therapeutic strategies. Mol Genet Metab. 2022 Jul 6;137(1-2):40-48. https://pubmed.ncbi.nlm.nih.gov/35914366/
  • Al Ojaimi M, Salah A, El-Hattab AW. Mitochondrial Fission and Fusion: Molecular Mechanisms, Biological Functions, and Related Disorders. Membranes (Basel). 2022 Sep 16;12(9):893. https://pubmed.ncbi.nlm.nih.gov/36135912/
  • Almannai M, Marafi D, El-Hattab AW. WIPI proteins: Biological functions and related syndromes. Front Mol Neurosci. 2022 Sep 9;15:1011918. https://pubmed.ncbi.nlm.nih.gov/36157071/
  • Almannai M, Marafi D, El-Hattab AW. El-Hattab-Alkuraya Syndrome. 2022 Sep 29. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. https://pubmed.ncbi.nlm.nih.gov/36173873/
  • Chong SC, Cao Y, Fung ELW, Kleppe S, Gripp KW, Hertecant J, El-Hattab AW, Suleiman J, Clark G, von Allmen G, Rodziyevska O, Lewis RA, Rosenfeld JA, Dong J; Undiagnosed Diseases Network; Wang X, Miller MJ, Bi W, Liu P, Scaglia F. Expansion of the clinical and molecular spectrum of WWOX-related epileptic encephalopathy. Am J Med Genet A. 2023 Mar;191(3):776-785. https://pubmed.ncbi.nlm.nih.gov/36537114/
  • Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN, Dudley AM. Predicting the functional effect of compound heterozygous genotypes from large scale variant effect maps. bioRxiv. 2023 Jan 27:2023.01.11.523651. https://pubmed.ncbi.nlm.nih.gov/36711904/
  • Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D. Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges. Int J Environ Res Public Health. 2023 Mar 8;20(6):4732. https://pubmed.ncbi.nlm.nih.gov/36981643/
  • Almahmoud R, Mekki M, El-Hattab AW. Cerebral folate deficiency: A report of two affected siblings. Mol Genet Metab Rep. 2023 Apr 12;35:100975. https://pubmed.ncbi.nlm.nih.gov/37101857/
  • Xie MJ, Cromie GA, Owens K, Timour MS, Tang M, Kutz JN, El-Hattab AW, McLaughlin RN Jr, Dudley AM. Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes. PLoS Genet. 2023 Oct 9;19(10) . https://pubmed.ncbi.nlm.nih.gov/37812589/
  • Khair H, Hilary S, Al Awar S, Zareba K, Maki S, Sayed G, Mutare S, El-Hattab AW, Al Ibrahim AH. Perinatal Outcomes in Foetuses with Increased Nuchal Translucency and Normal Karyotype: A Retrospective Cohort Study from the United Arab Emirates. J Clin Med. 2023 Oct 4;12(19):6358. [https://pubmed.ncbi.nlm.nih.gov/37835002/](https://pubmed.ncbi.nlm.nih.gov