Publications by authors named "Anas M Alazami"

51Publications

Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients.

J Clin Immunol 2020 Nov 27;40(8):1103-1110. Epub 2020 Aug 27.

Section of Pediatric Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, MBC-58, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10875-020-00851-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449781PMC
November 2020

Phenoidentical HLA-Related Hematopoietic Stem Cell Transplant Without Conditioning to Reconstitute a Patient with a Putative Loss-of-Function CARD11 Mutation.

J Clin Immunol 2020 Nov 19;40(8):1163-1165. Epub 2020 Aug 19.

Pediatric Allergy & Clinical Immunology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, MBC 58, P.O.Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10875-020-00846-yDOI Listing
November 2020

Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.

J Allergy Clin Immunol 2020 Jul 17;146(1):192-202. Epub 2019 Dec 17.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Pediatrics, Allergy and Immunology Section, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.jaci.2019.12.004DOI Listing
July 2020

STK4 Deficiency in a Patient with Immune Complex Glomerulonephritis, Salt-Losing Tubulopathy, and Castleman's-Like Disease.

J Clin Immunol 2019 11 23;39(8):823-826. Epub 2019 Aug 23.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, MBC-03, PO Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s10875-019-00682-9DOI Listing
November 2019

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

BMC Med Genet 2019 07 4;20(1):119. Epub 2019 Jul 4.

Department of Genetics, Research Centre, King Faisal Specialist Hospital & Research Centre, MBC-03, P.O. Box 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1186/s12881-019-0851-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6610916PMC
July 2019

A novel ISLR2-linked autosomal recessive syndrome of congenital hydrocephalus, arthrogryposis and abdominal distension.

Hum Genet 2019 Jan 27;138(1):105-107. Epub 2018 Nov 27.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-018-1963-3DOI Listing
January 2019

Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.

Allergy 2019 02 15;74(2):370-379. Epub 2018 Oct 15.

Department of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1111/all.13610
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http://dx.doi.org/10.1111/all.13610DOI Listing
February 2019

Deletion of DDB1- and CUL4- associated factor-17 (Dcaf17) gene causes spermatogenesis defects and male infertility in mice.

Sci Rep 2018 06 15;8(1):9202. Epub 2018 Jun 15.

Comparative Medicine Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1038/s41598-018-27379-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003934PMC
June 2018

Monogenic interferonopathies: Phenotypic and genotypic findings of CANDLE syndrome and its overlap with C1q deficient SLE.

Int J Rheum Dis 2018 Jan 8;21(1):208-213. Epub 2017 Nov 8.

Department of Allergy and Immunology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/1756-185X.13228DOI Listing
January 2018

Evolving spectrum of LRBA deficiency-associated chronic arthritis: is there a causative role in juvenile idiopathic arthritis?

Clin Exp Rheumatol 2017 Mar-Apr;35(2):327-329. Epub 2017 Jan 27.

Department of Paediatrics, Allergy and Immunology, King Faisal Specialist Hospital and Research Centre; and Alfaisal University, Riyadh, Saudi Arabia.

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June 2017

ADAT3-related intellectual disability: Further delineation of the phenotype.

Am J Med Genet A 2016 May 3;170A(5):1142-7. Epub 2016 Feb 3.

Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37578DOI Listing
May 2016

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

Am J Hum Genet 2015 Dec 19;97(6):862-8. Epub 2015 Nov 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4678428PMC
December 2015

TLE6 mutation causes the earliest known human embryonic lethality.

Genome Biol 2015 Nov 5;16:240. Epub 2015 Nov 5.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s13059-015-0792-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634911PMC
November 2015

Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome.

J Genet 2015 Sep;94(3):489-92

Department of Internal Medicine, Department of Radiodiagnosis, and Medical Biotechnology Central Research Lab, MES Medical College, Perinthalmanna 679 338,

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http://dx.doi.org/10.1007/s12041-015-0544-7DOI Listing
September 2015

Report of a case of Raine syndrome and literature review.

Am J Med Genet A 2015 Oct 14;167A(10):2394-8. Epub 2015 May 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.37159DOI Listing
October 2015

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.

J Med Genet 2015 Jun 6;52(6):400-4. Epub 2015 Mar 6.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2014-102964DOI Listing
June 2015

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015

The many faces of KIF7.

Hum Genome Var 2015 26;2:15006. Epub 2015 Feb 26.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/hgv.2015.6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785560PMC
April 2016

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.

Mol Genet Genomic Med 2014 Mar 10;2(2):103-6. Epub 2013 Dec 10.

Department of Genetics, King Faisal Specialist Hospital and Research Center Riyadh, Saudi Arabia ; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/mgg3.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3960051PMC
March 2014

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy.

J Med Genet 2014 Apr 7;51(4):224-8. Epub 2014 Jan 7.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2013-102030
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http://dx.doi.org/10.1136/jmedgenet-2013-102030DOI Listing
April 2014

Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus.

J Med Genet 2013 Jul 25;50(7):425-30. Epub 2013 Apr 25.

Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO BOX 3354, Riyadh 11211, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2012-101378DOI Listing
July 2013

The syndrome of deafness-dystonia: clinical and genetic heterogeneity.

Mov Disord 2013 Jun 15;28(6):795-803. Epub 2013 Feb 15.

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, United Kingdom.

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http://dx.doi.org/10.1002/mds.25394DOI Listing
June 2013

Weaver syndrome and defective cortical development: a rare association.

Am J Med Genet A 2013 Jan 13;161A(1):225-7. Epub 2012 Dec 13.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.35660
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http://dx.doi.org/10.1002/ajmg.a.35660DOI Listing
January 2013

A novel syndrome of lethal familial hyperekplexia associated with brain malformation.

BMC Neurol 2012 Oct 27;12:125. Epub 2012 Oct 27.

Division of Pediatric Neurology, Department of Pediatrics (39), College of Medicine, King Saud University, P. O. Box 2925, Riyadh, 11461, Saudi Arabia.

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http://dx.doi.org/10.1186/1471-2377-12-125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488335PMC
October 2012

Molecular characterization of Joubert syndrome in Saudi Arabia.

Hum Mutat 2012 Oct 11;33(10):1423-8. Epub 2012 Jul 11.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.22134DOI Listing
October 2012

Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolism.

Am J Med Genet A 2012 Jan 21;158A(1):245-6. Epub 2011 Nov 21.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.34347
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http://dx.doi.org/10.1002/ajmg.a.34347DOI Listing
January 2012

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).

Neurogenetics 2011 Nov 28;12(4):333-6. Epub 2011 Jul 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://link.springer.com/content/pdf/10.1007/s10048-011-0291
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http://link.springer.com/10.1007/s10048-011-0291-8
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http://dx.doi.org/10.1007/s10048-011-0291-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3215864PMC
November 2011

FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.

Am J Hum Genet 2009 Sep;85(3):414-8

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2009.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2771533PMC
September 2009

Expanding the "E" in CHARGE.

Am J Med Genet A 2008 Jul;146A(14):1890-2

Developmental Genetics Section, Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.32376DOI Listing
July 2008

Novel PRG4 mutations underlie CACP in Saudi families.

Hum Mutat 2006 Feb;27(2):213

Aragene Laboratory, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/humu.9399DOI Listing
February 2006

Human artificial chromosomes containing chromosome 17 alphoid DNA maintain an active centromere in murine cells but are not stable.

Genomics 2004 May;83(5):844-51

Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford OX3 9DS, United Kingdom.

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http://dx.doi.org/10.1016/j.ygeno.2003.11.011DOI Listing
May 2004