Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

Recessively Inherited Severe Aortic Aneurysm Caused by Mutated EFEMP2

(2012) Zuhair N. Al-Hassnan et al.   AMERICAN JOURNAL OF CARDIOLOGY

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula

(2012) Arif O Khan et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus

(2012) Mohammed A. Aldahmesh et al.   HUMAN MUTATION

A recessive form of Marshall syndrome is caused by a mutation in theCOL11A1gene: Figure 1

(2012) Ola Khalifa et al.   JOURNAL OF MEDICAL GENETICS

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms

(2011) Leen Abu-Safieh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome

(2011) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly

(2011) Fowzan S. Alkuraya et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

(2011) Mohammed A. Aldahmesh et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic Diagnosis in Consanguineous Families With Kidney Disease by Homozygosity Mapping Coupled With Whole-Exome Sequencing

(2011) Khaldoun I. Al-Romaih et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

GM2 gangliosidosis in Saudi Arabia: Multiple mutations and considerations for future carrier screening

(2011) Namik Kaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

Exome sequencing: Dual role as a discovery and diagnostic tool

(2011) Chee-Seng Ku et al.   ANNALS OF NEUROLOGY

Six-year outcome of the national premarital screening and genetic counseling program for sickle cell disease and β-thalassemia in Saudi Arabia

(2011) ZiadAhmed Memish et al.   ANNALS OF SAUDI MEDICINE

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

(2011) Mustafa A Salih et al.   BMC Medical Genetics

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

(2011) Mirna Assoum et al.   BRAIN

The neurology of carbonic anhydrase type II deficiency syndrome

(2011) T. M. Bosley et al.   BRAIN

The Saudi Project for Assessment of Coronary Events (SPACE) registry: Design and results of a phase I pilot study

(2011) Khalid F. AlHabib et al.   CANADIAN JOURNAL OF CARDIOLOGY

Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria

(2011) SHE Zaidi et al.   CLINICAL GENETICS

Novel mutation in GLRB in a large family with hereditary hyperekplexia

(2011) M Al-Owain et al.   CLINICAL GENETICS

A missense mutation inPIK3R5gene in a family with ataxia and oculomotor apraxia

(2011) Nada Al Tassan et al.   HUMAN MUTATION

Initiating a Human Variome Project Country Node

(2011) Jumana AlAama et al.   HUMAN MUTATION

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

(2011) Ranad Shaheen et al.   HUMAN MUTATION

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

(2011) Xia Wang et al.   HUMAN MUTATION

Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

(2011) Vanessa Sancho-Shimizu et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

(2011) M. A. Aldahmesh et al.   JOURNAL OF MEDICAL GENETICS

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

(2011) Caroline Rooryck et al.   NATURE GENETICS

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

(2011) Louise S Bicknell et al.   NATURE GENETICS

Exome sequencing as a tool for Mendelian disease gene discovery

(2011) Michael J. Bamshad et al.   NATURE REVIEWS GENETICS

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

(2011) Anas M. Alazami et al.   NEUROGENETICS

Molecular Characterization of Newborn Glaucoma Including a Distinct Aniridic Phenotype

(2011) Arif O. Khan et al.   OPHTHALMIC GENETICS

FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification?

(2010) Ranad Shaheen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

(2010) Mohammed Al-Owain et al.   Clinical & Developmental Immunology

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

(2010) R Shaheen et al.   CLINICAL GENETICS

Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes

(2010) M Al-Owain et al.   CLINICAL GENETICS

Study of consanguineous populations can improve the annotation of SNP databases

(2010) Hanan E. Shamseldin et al.   European Journal of Medical Genetics

Homozygosity mapping: One more tool in the clinical geneticist's toolbox

(2010) Fowzan S Alkuraya   GENETICS IN MEDICINE

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

(2010) Lihadh Al-Gazali et al.   HUMAN MUTATION

Novel CENPJ mutation causes Seckel syndrome

(2010) M. S. Al-Dosari et al.   JOURNAL OF MEDICAL GENETICS

Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

(2010) Steven E. Boyden et al.   NEUROGENETICS

Preimplantation genetic diagnosis in Saudi Arabia: parents' experience and attitudes

(2010) Ayman Alsulaiman et al.   PRENATAL DIAGNOSIS

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature

(2009) Jose Morales et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example

(2009) Mohamed A. Aldahmesh et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: The pitfalls of homozygosity mapping

(2009) Liat Benayoun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study

(2009) MohammadI El Mouzan et al.   ANNALS OF SAUDI MEDICINE

Saudi Arabian Y-Chromosome diversity and its relationship with nearby regions

(2009) Khaled K Abu-Amero et al.   BMC GENETICS

Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency

(2009) Muhammad Faiyaz-Ul-Haque et al.   EUROPEAN JOURNAL OF PEDIATRICS

Molecular Spectrum of α-Thalassemia Mutations in Microcytic Hypochromic Anemia Patients from Saudi Arabia

(2009) Ali Hellani et al.   Genetic Testing and Molecular Biomarkers

Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature

(2009) Zuhair N. Al-Hassnan et al.   JOURNAL OF CHILD NEUROLOGY

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping

(2009) L. Abu Safieh et al.   JOURNAL OF MEDICAL GENETICS

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging

(2009) M. A. Aldahmesh et al.   NEUROGENETICS

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

(2009) Mohammad A. Al-Muhaizea et al.   PEDIATRIC NEUROLOGY

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Consanguinity and reproductive health among Arabs

(2009) Ghazi O Tadmouri et al.   Reproductive Health

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

(2008) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS