A. Alazami

发表

The many faces of KIF7

F. Alkuraya, Duna H. Barakeh, E. Faqeih, 2015, Human Genome Variation.

Efficiency of de novo centromere formation in human artificial chromosomes.

W. Earnshaw, A. Alazami, J. E. Mejía, 2002, Genomics.

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

F. Alkuraya, A. Alazami, H. Hijazi, 2014, Journal of Medical Genetics.

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

S. Schneider, K. Bhatia, J. Wuerfel, 2010, Clinical genetics.

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

A. Alazami, M. Jacob, M. Dasouki, 2018, Allergy.

The syndrome of deafness‐dystonia: Clinical and genetic heterogeneity

I. Parees, M. Edwards, K. Bhatia, 2013, Movement disorders : official journal of the Movement Disorder Society.

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

Mohamed Abouelhoda, Yong Xiong, Fowzan S Alkuraya, 2015, Cell reports.

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

F. Alkuraya, A. Alazami, M. Salih, 2016, BMC Neurology.

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.

F. Alkuraya, J. Majewski, F. Bernier, 2015, American journal of human genetics.

Clinical and Immunological Features of Human BCL10 Deficiency

J. Casanova, M. Fernández-arquero, S. Sánchez-Ramón, 2021, Frontiers in Immunology.

Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

C. Walsh, S. Schneider, K. Bhatia, 2008, American journal of human genetics.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

L. Hetterschijt, R. Roepman, N. Sorusch, 2015, Genome Biology.

Lupus manifestations in children with primary immunodeficiency diseases: Comprehensive phenotypic and genetic features and outcome

W. Al-Herz, A. Alazami, T. Alsinan, 2021, Modern rheumatology.

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

A. Alazami, J. E. Mejía, Z. L. Monaco, 2004, Genomics.

Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number

C. Walsh, F. Alkuraya, T. Yu, 2014, Neuron.

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

F. Alkuraya, A. Alazami, P. Bavi, 2009, American journal of human genetics.

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation

F. Alkuraya, E. Faqeih, A. Alazami, 2012, Journal of Medical Genetics.

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

A. Alazami, S. Al‐Muhsen, Z. Alsum, 2020, Journal of Clinical Immunology.

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

J. Shay, F. Alkuraya, W. Wright, 2016, BMC Genomics.

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

A. Alazami, H. Al-Mousa, S. Al‐Mayouf, 2017, International journal of rheumatic diseases.

Expanding the “E” in CHARGE

F. Alkuraya, A. Alazami, F. Alzahrani, 2008, American journal of medical genetics. Part A.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

J. Shendure, Martin Kircher, R. Daza, 2016, Human Genetics.

Weaver syndrome and defective cortical development: A rare association

F. Alkuraya, H. Hassan, A. Alazami, 2013, American journal of medical genetics. Part A.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

NPHP4 mutation is linked to cerebello‐oculo‐renal syndrome and male infertility

H. Hassan, A. Alazami, M. Baig, 2014, Clinical genetics.

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

F. Alkuraya, D. Çolak, A. Alazami, 2012, Human mutation.

Novel PRG4 mutations underlie CACP in Saudi families

A. Alazami, B. Meyer, S. Al‐Mayouf, 2006, Human mutation.

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

E. Phizicky, F. Alkuraya, A. Alazami, 2019, Human Genetics.

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

F. Alkuraya, E. Faqeih, A. Alazami, 2015, Journal of Medical Genetics.

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

A. Alazami, A. Hawwari, R. Arnaout, 2017, Journal of Clinical Immunology.

Report of a case of Raine syndrome and literature review

F. Alkuraya, A. Alazami, A. Miqdad, 2015, American journal of medical genetics. Part A.

Further Delineation of the ALG9-CDG Phenotype.

F. Alkuraya, A. Alazami, D. Lefeber, 2016, JIMD reports.

TLE6 mutation causes the earliest known human embryonic lethality

F. Alkuraya, A. Alazami, S. Coskun, 2015, Genome Biology.

Characterizing the morbid genome of ciliopathies

Colin A. Johnson, Anason S. Halees, M. Ueffing, 2016, Genome Biology.

A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies

A. Alazami, B. Meyer, S. Bohlega, 2016, Human Genomics.

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

J. Shendure, Martin Kircher, R. Daza, 2016, Human Genetics.

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

F. Alkuraya, A. Alazami, N. Adly, 2011, neurogenetics.

Genomic and phenotypic delineation of congenital microcephaly

C. Walsh, F. Alkuraya, S. Arold, 2018, Genetics in Medicine.

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

A. Alazami, N. Al-Numair, M. Abouelhoda, 2018, Front. Immunol..

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

M. State, F. Alkuraya, S. Arold, 2017, Molecular Psychiatry.

The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population

F. Alkuraya, N. Kaya, S. Anazi, 2014, Genetics in Medicine.

PAX1 is essential for development and function of the human thymus

T. Myers, J. Casanova, L. Notarangelo, 2020, Science Immunology.

TLE6 mutation causes the earliest known human embryonic lethality

F. Alkuraya, A. Alazami, S. Coskun, 2015, Genome Biology.

Phenotypic and Genotypic Characterization of Hereditary Angioedema in Saudi Arabia

A. Alazami, Hassan Alrayes, R. Arnaout, 2022, Journal of Clinical Immunology.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity

A. Alazami, M. Dasouki, A. Hawwari, 2020, Clinical and experimental immunology.

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

Tariq Ahmad Masoodi, F. Alkuraya, A. Alazami, 2013, Journal of Medical Genetics.

Molecular characterization of Joubert syndrome in Saudi Arabia

F. Alkuraya, A. Alazami, Arif O. Khan, 2012, Human mutation.

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

F. Alkuraya, A. Alazami, F. Alzahrani, 2013, Molecular genetics & genomic medicine.

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

R. Hoyos-Bachiloglu, R. Geha, J. Chou, 2019, The Journal of allergy and clinical immunology.

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Kenneth G. C. Smith, R. Döffinger, Y. Modis, 2019, The Journal of experimental medicine.

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

J. Finsterer, A. Alazami, S. Bohlega, 2019, BMC Medical Genetics.

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

J. Finsterer, A. Alazami, S. Bohlega, 2019, BMC Medical Genetics.

SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3

Saeed Bohlega, Fowzan S. Alkuraya, F. Alkuraya, 2014, Neurology.

F. Alkuraya, E. Faqeih, A. Alazami, 2016, American journal of medical genetics. Part A.

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

F. Alkuraya, A. Alazami, M. Salih, 2012, BMC Neurology.

Novel PRG4 Mutations Underlie CACP in Saudi

A. Alazami, B. Meyer, S. Al‐Mayouf, 2006 .

Human IL-2 receptor β mutations associated with defects in immunity and peripheral tolerance

Y. Modis, L. Notarangelo, P. Pennamen, 2018, bioRxiv.

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

A. Alazami, H. Al-Mousa, Bashayer Al-Rasheed, 2020, Journal of Clinical Immunology.

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

J. Shay, F. Alkuraya, W. Wright, 2016, BMC Genomics.

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

F. Alkuraya, A. Alazami, A. Prince, 2018, Scientific Reports.

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

A. Alazami, B. Al-Saud, Hibah Alruwaili, 2019, Journal of Clinical Immunology.

Further Delineation of the ALG 9-CDG Phenotype

F. Alkuraya, A. Alazami, D. Lefeber, 2015 .

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

H. Khalak, F. Alkuraya, N. Kaya, 2012, Genetics in Medicine.

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

A. Alazami, M. Musambil, M. Abdulla, 2015, Journal of Genetics.

Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

A. Alazami, A. Hawwari, R. Arnaout, 2017, Journal of Clinical Immunology.

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

F. Alkuraya, A. Alazami, M. Salih, 2012, American journal of medical genetics. Part A.

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

F. Alkuraya, A. Alazami, A. Prince, 2018, Scientific Reports.

Expanding the phenome and variome of skeletal dysplasia

S. Kapoor, F. Alkuraya, E. Faqeih, 2018, Genetics in Medicine.

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

M. Temsah, F. Alkuraya, Y. Xiong, 2015, Cell reports.

Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome

F. Alkuraya, A. Alazami, Abdulrahman A Aldeeri, 2014, Clinical genetics.

PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly

Fowzan S Alkuraya, E. Phizicky, F. Alkuraya, 2019, Human Genetics.