Professor of Human Genetics, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Medical Genetics

Fowzan S. Alkuraya, MD works in the field of Medical Genetics. He studied medicine at King Saud University College of Medicine. Doctor Fowzan S. Alkuraya, MD is a published MD as well. He has 98 publications published. The latest was: CPAP promotes timely cilium disassembly to maintain neural progenitor pool.

Publications

---

• CPAP promotes timely cilium disassembly to maintain neural progenitor pool.
• Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?
• Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial.
• ADAT3-related intellectual disability: Further delineation of the phenotype.
• Crisponi/CISS1 syndrome: A case series.
• GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder.
• Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy.
• FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy.
• Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
• Novel copy number variants and major limb reduction malformation: Report of three cases.
• Confirming the candidacy of THOC6 in the etiology of intellectual disability.
• Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
• KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
• Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
• Elevation deficiency in children with recessive RDH12-related retinopathy.
• Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
• RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans.
• Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
• Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis).
• TLE6 mutation causes the earliest known human embryonic lethality.
• Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number.
• METTL23, a transcriptional partner of GABPA, is essential for human cognition.
• Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
• Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy.
• Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation.
• Phenotype-genotype Correlation in Potential Female Carriers of X-linked Developmental Cataract (Nance-Horan Syndrome).
• Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity.
• Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia.
• A novel X-linked disorder with developmental delay and autistic features.
• Congenital disorder of glycosylation IIa: The trouble with diagnosing a dysmorphic inborn error of metabolism.
• Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
• 'Cone dystrophy with supranormal rod response' in children.
• Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome.
• Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms.
• Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations.
• A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).
• Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting.
• 5-Oxoprolinase Deficiency: Report of the First Human OPLAH Mutation.
• Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos.
• Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement.
• Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
• GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening.
• Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.
• Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.
• A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
• Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
• Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
• Molecular Characterization Of Newborn Glaucoma Including A Distinct Aniridic Phenotype.
• Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis.
• Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.
• Genetic and genomic analysis of classic aniridia in Saudi Arabia.
• Autozygome decoded.
• FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?
• Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).
• Mental retardation, growth retardation, unusual nose, and open mouth: an autosomal recessive entity.
• Perturbation of the consensus activation site of endothelin-3 leads to Waardenburg syndrome type IV.
• Mutation of CANT1 causes Desbuquois dysplasia.
• Homozygosity mapping: one more tool in the clinical geneticist's toolbox.
• Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.
• Methylation-specific multiplex-ligation-dependent probe amplification as a rapid molecular diagnostic tool for pseudohypoparathyroidism type 1b.
• A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.
• Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
• Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
• Tufting enteropathy and chronic arthritis: a newly recognized association with a novel EpCAM gene mutation.
• A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.
• FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome.
• Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia.
• NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
• Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.
• Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families.
• Molecular characterization of retinitis pigmentosa in Saudi Arabia.
• Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
• Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.
• Expanding the "E" in CHARGE.
• Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
• NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
• SUMO1 haploinsufficiency leads to cleft lip and palate.
• Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
• A patient with a ring chromosome 2 and microdeletion of 2q detected using FISH: Further support for "ring chromosome 2 syndrome".
• Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
• Trisomy 8 mosaicism in a patient with heterotaxia.
• Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation.
• Identification of ADAMTS18 as a gene mutated in Knobloch syndrome.
• A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.
• Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
• Study of consanguineous populations can improve the annotation of SNP databases.
• Novel CENPJ mutation causes Seckel syndrome.
• Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.
• Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).
• Corneal decompensation in recessive cornea plana.
• Characterization of CTNS mutations in Arab patients with cystinosis.
• Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).
• Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?
• Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma.
• X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype.
• Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.
• Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.

Schools

---

• King Saud University Riyadh College Of Medicine

• Georgetown University Hospital

• Harvard Med Genetics Training Program

Doctors Specialties

---

• Clinical Genetics
• Clinical Molecular Genetics
• Pediatrics
• Medical Genetics

Accepted Insurances

---

Education

---

• Boston Children's Hospital
• Georgetown University Hospital
• King Saud University College of Medicine

Helpful Reviews

---

Give Anonymous Review

Similar Doctors

---

	Dr. Joel B. Krier, MD This Doctor is OpenDoctor Recommended.
	Dr. Janey L. Wiggs, MD This Doctor is OpenDoctor Recommended.
	Dr. Thaddeus P. Dryja, MD This Doctor is OpenDoctor Recommended.
	Dr. Brian G. Skotko, MD This Doctor is OpenDoctor Recommended.
	Punitha Kannan
	Shelley R. McCormick
	Dr. Sara M. Selig, PHD This Doctor is OpenDoctor Recommended.
	Dr. Jonathan A. Fletcher, MD This Doctor is OpenDoctor Recommended. This doctor has more publications
	Deborah L. Marsden, MB This Doctor is OpenDoctor Recommended.
	Dr. Katharine B. Herrick, MD This Doctor is OpenDoctor Recommended.
	Dr. Lewis B. Holmes, MD This Doctor is OpenDoctor Recommended.
	Dr. Alan D. Woolf, MD This Doctor is OpenDoctor Recommended.
	Dr. Richard E. Marshall, MD
	Dr. Joan M. Stoler, MD This Doctor is OpenDoctor Recommended.
	Dr. Patroula Smpokou, MD
	Dr. Nien T. Dong, MD This Doctor is OpenDoctor Recommended.
	Dr. John J. Ryan, MD
	Ilana Chilton

---

Doctor Directory | TOS | twitter | FB | Angel | blog