1.Alfadhel M, AlAmir A. Senior – Loken Syndrome in a Saudi child. Saudi Journal of Kidney Diseases and Transplantation. 2008; 19(3):443-445.
2. Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S,
Alfadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, Badano JL, Katsanis N. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome, Nature Genetics. 2008;40(4):443-448.
3.Alfadhel M, Pugash D, Robinson AJ, Murphy JJ, Senger C, Afshar K, Armstrong L. Pre- and Postnatal Findings in a Boy with Duplication of the Bladder and Intestine. Report and Review.
American Journal of Medical Genetics Part A. 2009; 149A (12):2795-2802. Review.
4.Alfadhel M, LillquistYP, Waters PJ, Sinclair G, Struys E, McFadden D, et al. Infantile cardioencephalopathy due to a COX 15 gene defect: Report and review.. Am J Med Genet A. 2011(4):840-844. (Abstract presented in 11th International Congress of Inborn Error of Metabolism). Review.
5.Alfadhe M, Sirrs S. Enzyme replacement therapy for Fabry disease: some answers but more questions Ther Clin Risk Manag. 2011;7:69-82. Review.
6. Mattman A, Sirrs S, Michelle MM, Salvarinova R,
Alfadhel M, Lillquist YP. Mitochondrial Disease Clinical Manifestations: An overview BCMJ, 2011; 53 (4): 183-187.
7.Alfadhel M, Yong SL, Lillquist YP, Langlois S. Precocious Puberty in Two Girls with PEHO Syndrome: a Clinical Feature Not Previously Described. Child Neurol. 2011 Jul;26(7):851-857. Review.
8.Alfadhel M, Lillquist YP, Davis S, Junker AK, Stockler-Ipsiroglu S. Eighteen Year Follow-up of a Patient with Cobalamin F disease (cblF) and Review of Case. Am J Med Genet A. 2011 Oct; 155(10):2571-2577.
9.Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, Stockler-Ipsiroglu. Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Can J Neurol Sci. 2012 Jul;39(4):516-519.
10.Alfadhel M, Alhasan KA, Alotaibi M, Al Fakeeh K. Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1. Ther Clin Risk Manag. 2012;8:373-376.
11.Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C,
Alfadhel M, et al.
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013 Jan 12.
12.Alfadhel M, Almuntashri M, Jadah RH, Al Rifai MT, Al Shalaan H,
Eyaid W, et al.
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. (Highly Accessed)
13.Alfadhel M, Al-Thihli K, Moubayed H,
Eyaid W, Al-Jeraisy M. Drug treatment of inborn errors of metabolism: a systematic review. Arch Dis Child. 2013 Jun;98(6):454-61.
14. Jassim N, Alghaihab M, Al Saleh S, Alfadhel M, Wamelink MM,
Eyaid W. Pulmonary Manifestations of in Patient with Transaldolase Deficiency. JIMD Rep. 2013 Jul 12.
15.Alfadhel M, AlShehhi W, Alshaalan H, Al Balwi M,
Eyaid W. Mucolipidosis II: first report from Saudi Arabia. Ann Saudi Med. 2013 Jul-Aug;33(4):382-6.
16. Tabarki B, Al-Hashem A,
Alfadhel M. Biotin-Thiamine-Responsive Basal Ganglia Disease. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013
17. Al-Hussaini A, Faqeih E, El-Hattab AW,
Alfadhel M, Asery A,
Eyaid W, et al. Clinical and Molecular Characteristics of Mitochondrial DNA Depletion Syndrome Is Associated with Neonatal Cholestasis and Liver Failure. J Pediatr. 2013 Dec 7. pii: S0022-3476(13)01378-4
18.Alfadhel M, Kattan R. Aromatic amino Acid decarboxylase deficiency not responding to pyridoxine and bromocriptine therapy: case report and review of response to treatment. J Cent Nerv Syst Dis. 2014 Jan 7;6:1-5.
19. Sarkhy AA, Al-Sunaid A, Abdullah A,
AlFadhel M,
Eiyad W. A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure. Ann Saudi Med. 2014;34(2):175-8
20. Alrifai MT, AlShaya MA, Abulaban A,
Alfadhel M. Hereditary neurometabolic causes of infantile spasms in 80 children presenting to a tertiary care center. Pediatr Neurol. 2014 Sep;51(3):390-7
21.Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H. Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis. Neuropsychiatr Dis Treat. 2014 Nov 12;10:2135-7.
22. Al-Hassnan ZN, Al-Dosary M,
Alfadhel M, Faqeih EA, Alsagob M, Kenana R, et al.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder. J Med Genet. 2015 Mar;52(3):186-94.
23. Alazami AM, Patel N, Shamseldin HE, Anazi S,
Alfadhel M,Al Mutairi F, et. al. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families. Cell Rep. 2015 Jan 13;10(2):148-61.
24.Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A,
Eyaid W, et al. Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism. JIMD Rep. 2015 Feb 8.
25. Tabarki B,
Alfadhel M, AlShahwan S, Hundallah K, AlShafi S, AlHashem A. Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. Eur J Paediatr Neurol. 2015 Jun 12. pii: S1090-3798(15)00105-1. doi: 10.1016/j.ejpn.2015.05.008.
26. Hollink IH,
Alfadhel M, Al-Wakeel AS,
Ababneh F, Pfundt R, de Man SA, et al. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet. 2015 Nov 26.
27. Al-Rumayyan A, Klein C,
Alfadhel M.Early-Onset Parkinsonism: Case Report and Review of the Literature. Pediatr Neurol. 2017 Feb;67:102-106.e1. doi: 10.1016/j.pediatrneurol.2015.06.005.
28. Imtiaz F, Al-Mubarak BM, Al-Mostafa A,
Al-Mutairi F,
Alfadhel M,
Eyaid WM, et al. Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. JIMD Rep. 2015 Nov 29
29. Shamseldin HE, Bennett AH,
Alfadhel M, Gupta V, Alkuraya FS. GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder. Hum Genet. 2016 Feb;135(2):245-51. doi: 10.1007/s00439-015-1632-8.
30. Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M,
Alfadhel M, et. al. Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue. Hum Genet. 2016 May;135(5):525-40.
31.Alfadhel M,Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T. Guidelines for acute management of hyperammonemia in the Middle East region. Ther Clin Risk Manag. 2016 Mar 31;12:479-87.
32. Alrifai MT,
Alfadhel M. Worsening of Seizures after Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency. Pediatr Neurol. 2016 May;58:98-100.
33. Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R,
Alfadhel M, et. al. Exome Sequencing and the Management of Neurometabolic Disorders. N Engl J Med. 2016 Jun 9;374(23):2246-55.
34. Anazi S, Maddirevula S, Faqeih E, Alsedairy H,
Alfadhel M,
Eyaid W, et. al.
Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield. Mol Psychiatry. 2017 Apr;22(4):615-624. doi: 10.1038/mp.2016
35. Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M,
Alfadhel M, et. al. Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families. Mol Genet Metab. 2016 Sep;119(1-2):44-9.
36.Alfadhel M, Nashabat M, Qahtani HA, Alfares A,
Mutairi FA, Shaalan HA, et. al. Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans. Hum Genet. 2016 Aug 1
37. Alamri H,
Al Mutairi F, Alothman J, Alothaim A,
Alfadhel M, Alfares A. Diabetic ketoacidosis in vanishing white matter. Clin Case Rep. 2016 Jun 17;4(8):717-20.
38. Alwadei AH, Benini R, Mahmoud A, Alasmari A, Kamsteeg EJ,
Alfadhel M. Loss-of-function mutation in RUSC2 causes intellectual disability and secondary microcephaly. Dev Med Child Neurol. 2016 Sep 9
39.Alfadhel M, Benmeakel M, Hossain MA,
Al Mutairi F, Al Othaim A,
Eyaid W, et. al. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia. Orphanet J Rare Dis. 2016 Sep 15;11(1):126.
40. Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME,
Eyaid W,
Alfadhel M, et. al. Clinical exome sequencing: results from 2819 samples reflecting 1000 families. Eur J Hum Genet. 2017 Feb;25(2):176-182.
41.Alfadhel M, Nashabat M, Abu Ali Q, Hundallah K. Mitochondrial iron-sulfur cluster biogenesis from molecular understanding to clinical disease. Neurosciences (Riyadh). 2017 Jan;22(1):4-13.
42. Obaid A, Nashabat M, Al Fakeeh K, Al Qahtani AT,
Alfadhel M. Delineation of cystinuria in Saudi Arabia: A case series. BMC Nephrol. 2017 Feb 6;18(1):50.
43. Alfakeeh K, Azar M,
Alfadhel M, Abdullah AM, Aloudah N, Alsaad KO. Rare genetic variant in the CFB gene presenting as atypical hemolytic uremic syndrome and immune complex diffuse membranoproliferative glomerulonephritis, with crescents, successfully treated with eculizumab. Pediatr Nephrol. 2017 Feb 16.
44.Alfadhel M, Al Othaim A, Al Saif S, El Mutairi F, Alsayed M,
Eyaid W, et. al. Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders. J Paediatr Child Health. 2017 Mar 24
45. Alfares A,
Alfadhel M, Wani T,
Alluhaydan I,
Al Mutairi F,
Eyaid W, et. al. A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield. Mol Genet Metab. 2017 Jun;121(2):91-95.
46.Al Mutairi F, Shamseldin HE,
Alfadhel M, Rodenburg RJ, Alkuraya FS. A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency. Clin Genet. 2017 Apr;91(4):629-633
47. Alshenqiti A, Nashabat M, AlGhoraibi H, Tamimi O,
Alfadhel M. Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report. Ther Clin Risk Manag. 2017 May 9;13:629-634
48. Nashabat M, Maegawa G, Nissen PH, Nexo E, Al-Shamrani H, Al-Owain M,
Alfadhel M. Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations. J Pediatr Hematol Oncol. 2017 May 22.
49. Hossain MA, Obaid A, Rifai M, Alem H,
Alfadhel M,
Eyaid W, et al. Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula. Hum Genome Var. 2017 May 25.
50. Monies D, Abouelhoda M, AlSayed M,
Al Mutairi F, Eyaid W,
Alfadhel M, et. al. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. Hum Genet. 2017 Aug;136(8):921-939.
51. Alsubhi S, Alhashem A, Faqeih E,
Alfadhel M, Alfaifi A,
Mutairi FA, et. al. Congenital disorders of glycosylation: The Saudi experience. Am J Med Genet A. 2017 Jul 25.
52. Gadomski TE, Bolton M,
Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing. Am J Med Genet A. 2017 Aug 4.
53. Ortigoza-Escobar JD,
Alfadhel M, Molero-Luis M, Darin N, Spiegel R, de Coo IF, et. al; Thiamine Deficiency Study Group. Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors. Ann Neurol. 2017 Jul 18.
54. Windpassinger C, Piard J, Bonnard C,
Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, et. al. CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays. Am J Hum Genet. 2017 Sep 7;101(3):391-403.
55. Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S,
Alfadhel M, et. al.
Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2017 Nov;136(11-12):1419-1429.
56. El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al
Alfadhel M, et. al.
Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 Dec;38(12):1649-1659
57.Alfadhel M, Al-Bluwi A.
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. Child Neurol Open. 2017 Sep 14;4
58.Alfadhel M, Tabarki B.
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. Neuropediatrics. 2017 Sep 29.
59. Obaid A, Nashabat M,
Alfadhel M, Alasmari A,
Al Mutairi F, Alswaid A,
Eyaid W, et al.
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency. JIMD Rep. 2017 Oct 5
60.Alfadhel M.
Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.J Cent Nerv Syst Dis. 2017 Oct 27;9
61. Al Mutairi F,
Alfadhel M, Nashabat M, El-Hattab AW, Ben-Omran T,
Eyaid W, et al.
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients. Pediatr Neurol. 2018 Jan;78:35-40.
62. Alfares A, Alhufayti I, Alsubaie L, Alowain M, Almass R,
Alfadhel M, Kaya N, Eyaid W. Ann Hum Genet.
A new association between CDK5RAP2 microcephaly and congenital cataracts. 2017 Dec 22. doi:
63. Alsultan A, Basher E, Alqanatish J, Mohammed R, Alfadhel M.
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. Pediatr Blood Cancer. 2018 Apr;65(4). doi: 10.1002/pbc.26912. Epub 2017 Dec 22.
64. El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C,
Alfadhel M, et al.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 Apr;39(4):461-470. Doi
65. Anazi S, Maddirevula S, Salpietro V, Asi YT, Alsahli S,
Alfadhel M, et al.
Correction to: Expanding the genetic heterogeneity of intellectual disability. Hum Genet. 2018 Jan;137(1):105-109.
66. Pinto A,
Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein Let al.
International practices in the dietary management of fructose 1-6 biphosphatase deficiency. Orphanet J Rare Dis. 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3.
67. Alfadhel M, Nashabat M, Hundallah K, Al Hashem A, Alrumayyan A, Tabarki B.
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review. Child Neurol Open. 2018 Jan 11
68. Baldi C, Bertoli-Avella AM, Al-Sannaa N,
Alfadhel M, Al-Thilhi K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P.
Expanding the clinical and genetic spectra of NKX6-2-related disorder. Clin Genet. 2018 Feb 1. doi: 10.1111/cge.13221
69. Nashabat M, Al-Khenaizan S,
Alfadhel M.
Methionine adenosyltransferase I/III deficiency: beyond the central nervous system manifestations. Ther Clin Risk Manag. 2018 Feb 2;14:225-229. doi: 10.2147/TCRM.S151732.
70. Althonaian N, Alsultan A, Morava E,
Alfadhel M.
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
71. Bawazeer S, Alshalan M, Alkhaldi A, AlAtwi N,
Alswaid A,
Alfadhel M.
Tetrasomy 18p: case report and review of literature. Appl Clin Genet. 2018 Feb 8;11:9-14. doi: 10.2147/TACG.S153469. eCollection 2018.
72. Alsahli S, Alrifai MT, Al Tala S,
Mutairi FA,
Alfadhel M. Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4. J Cent Nerv Syst Dis. 2018 Feb 28;10:1179573518759682. doi: 10.1177/1179573518759682. eCollection 2018.
73. Alfares A, Aloraini T, Subaie LA,
Mutairi FA, Alswaid A,
Eyaid W,
Alfadhel M, et. al.
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.
74. Hollink IHIM,
Alfadhel M, Al-Wakeel AS,
Ababneh F, Pfundt R, de Man SA, et. al.
Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet. 2018 Apr;63(4):539. doi: 10.1038/s10038-017-0373-z. Epub 2018 Mar 8.
75. Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F,
Alfadhel M, et. al.
Expanding the phenome and variome of skeletal dysplasia. Genet Med. 2018 Apr 5. doi: 10.1038/gim.2018.50. [Epub ahead of print]
76. BoAli AY,
Alfadhel M, Tabarki B.
Neurometabolic disorders and congenital malformations of the central nervous system. Neurosciences (Riyadh). 2018 Apr;23(2):97-103. doi: 10.17712/nsj.2018.2.20170481.
77. Williams M, Valayannopoulos V, Altassan R, Chung WK, Heijboer AC,
Alfadhel M, et. al.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients. J Inherit Metab Dis. 2018 May 2. doi: 10.1007/s10545-018-0184-1.
78. Alsahli S, Arold ST, Alfares A, Alhaddad B, Al Balwi M,
Alfadhel M, et. al.
KIF16B is a candidate gene for a novel autosomal-recessive intellectual disability syndrome. Am J Med Genet A. 2018 Jul;176(7):1602-1609. doi: 10.1002/ajmg.a.38723. Epub 2018 May 7.
79. Nahorski MS, Maddirevula S, Ishimura R, Alsahli S,
Alfadhel M,
Eyaid W, et. al.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development. Brain. 2018 Jul 1;141(7):1934-1945. doi: 10.1093/brain/awy135.
80. Alghamdi J, Matou-Nasri S, Alghamdi F, Alghamdi S,
Alfadhel M, Padmanabhan S.
Risk of neuropsychiatric adverse effects of lipid-lowering drugs: A Mendelian Randomization study. Int J Neuropsychopharmacol. 2018 Jul 7. doi: 10.1093/ijnp/pyy060.
81. Al-Rakan MA,
Abothnain MD, Alrifai MT,
Alfadhel M.
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. BMC Ophthalmol. 2018 Jun 22;18(1):147. doi: 10.1186/s12886-018-0820-4. Review.
82. Alghamdi J, Matou-Nasri S,
Alfadhel M,
Al Mutairi F,
Alswaid A, Eyaid W, et. al.
Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients. J Child Neurol. 2018 Oct;33(11):713-717. doi: 10.1177/0883073818786157. Epub 2018 Jul 17.
83. Yavuz H, Bertoli-Avella AM,
Alfadhel M, Al-Sannaa N, Kandaswamy KK, Al-Tuwaijri W, et. al.
A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children. Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30.
84. Hijazi L, Kashgari A,
Alfadhel M.
Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation. J Child Neurol. 2018 Nov;33(13):820-824. doi: 10.1177/0883073818790851. Epub 2018 Aug 20.
85.Alfadhel M, Babiker A.
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
86. Alsultan A, Al-Suliman AM, Aleem A, AlGahtani FH,
Alfadhel M.
Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease. Genet Test Mol Biomarkers. 2018 Sep;22(9):561-567. doi: 10.1089/gtmb.2018.0058. Epub 2018 Sep 5.
87.Alfadhel M, El-Hattab AW.
Asparagine Synthetase 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; 1993-2018. 2018 Sep 20.
88. Maddirevula S, Alzahrani F, Al-Owain M, Al Muhaizea MA, Kayyali HR,
Alluhaydan I,
Alfadhel M, et. al.
Autozygome and high throughput confirmation of disease genes candidacy Genet Med. 2018 Sep 21. doi: 10.1038/s41436-018-0138-x. [Epub ahead of print]
89. Alsahli S, Bubshait DK, Rahbeeni ZA,
Alfadhel M. Aortic calcification in Gaucher disease: a case report. Appl Clin Genet. 2018 Oct 17;11:107-110. doi: 10.2147/TACG.S180995. eCollection 2018.
90. Shashi V, Magiera MM, Klein D, Zaki M, Schoch K,
Alfadhel M, et. al. Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J. 2018 Dec 3;37(23). pii: e100540. doi: 10.15252/embj.2018100540. Epub 2018 Nov 12.
91. Umair M, Ahmad F, Bilal M, Ahmad W,
Alfadhel M. Clinical Genetics of Polydactyly: An Updated Review. Front Genet. 2018 Nov 6;9:447. doi: 10.3389/fgene.2018.00447. eCollection 2018.
92. Alhusani A, Obaid A, Blom HJ, Wedell A,
Alfadhel M. Adenosine Kinase Deficiency: Report and Review. Neuropediatrics. 2018 Nov 26. doi: 10.1055/s-0038-1676053. [Epub ahead of print]
93.Alfadhel M. Prevention genetics program is an efficient model for precision medicine. Int J Health Sci (Qassim). 2018 Nov-Dec;12(6):1-2.
94. Alshenaifi J, Ewida N, Anazi S,
Eyaid W,
Alswaid A,
Alfadhel M, et. al. The many faces of peroxisomal disorders: Lessons from a large Arab cohort. Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481.
95.Alfadhel M, Albahkali S, Almuaysib A, Alrfaei BM. The SORCS3 gene is mutated in brothers with infantile spasms and intellectual disability. Discov Med. 2018 Oct;26(143):147-153
96. Al-Hamed MH, Imtiaz F, Al-Hassnan Z, Al-Owain M,
Alfadhel M,
Almutairi F, et. al. Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia. Mol Genet Metab Rep. 2019 Jan 9;18:22-29.
97. Younus M, Ahmad F, Malik E, Bilal M, Kausar M,
Alfadhel M, et. al. SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report. Front Genet. 2019 Jan 23;9:727. doi: 10.3389/fgene.2018.0072
98. Williams M, Valayannopoulos V, Altassan R, Chung WK,
Alfadhel M,
Eyaid W, et. al. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients. J Inherit Metab Dis. 2019 Jan;42(1):147-158. doi: 10.1002/jimd.12036.
99. Ehaideb SN, Al-Bu Ali MJ, Al-Obaid JJ, Aljassim KM,
Alfadhel M. Novel Homozygous Mutation in the WWOX Gene Causes Seizures and Global Developmental Delay: Report and Review. Transl Neurosci. 2018 Dec 31;9:203-208. doi: 10.1515/tnsci-2018-0029. eCollection 2018.
100. Alsahli S, Al Anazi A, Al Hatlani MM, Kashgari A,
Alfadhel M,
Al Mutairi F. Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency. ACG Case Rep J. 2018 Dec 5;5:e93. doi: 10.14309/crj.2018.93. eCollection 2018.
101. Al Tuwaijri A,
Alfadhel M. MYT1L mutation in a patient causes intellectual disability and early onset of obesity: a case report and review of the literature. J Pediatr Endocrinol Metab. 2019 Feb 23. pii: /j/jpem.ahead-of-print/jpem-2018-0505/jpem-2018-0505.xml. doi: 10.1515/jpem-2018-0505.
102. Alfallaj R,
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