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List of works by Fowzan S Alkuraya

'Cone dystrophy with supranormal rod response' in children

scientific article published on 06 September 2011

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

scientific article published on 25 January 2013

3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature

scientific article published on 09 February 2012

5-Oxoprolinase deficiency: report of the first human OPLAH mutation.

scientific article published on 30 June 2011

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

scientific article published on 5 May 2011

A case of de Barsy syndrome with a severe eye phenotype

scientific article published on 06 August 2012

A de novo ATXN2L variant in a child with developmental delay and macrocephaly

scientific article published on 07 December 2020

A de novo splicing variant supports the candidacy of TLL1 in ASD pathogenesis

scientific article published on 30 September 2019

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

scientific article

A genomics approach to females with infertility and recurrent pregnancy loss

scientific article published on 14 March 2020

A genomics approach to male infertility

scientific article published on 28 July 2020

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition

scientific journal article

A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

scientific article published on 20 January 2020

A lethal phenotype associated with tissue plasminogen deficiency in humans

scientific article published on 14 July 2016

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin

scientific article published on 23 January 2018

A novel APC mutation defines a second locus for Cenani-Lenz syndrome.

scientific article

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

scientific article published on December 2010

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement

scientific article

A novel X-linked disorder with developmental delay and autistic features

scientific article

A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family

scientific article

A novel mechanism for variable phenotypic expressivity in Mendelian diseases uncovered by an AU-rich element (ARE)-creating mutation

scientific article published on 28 July 2017

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

scientific article

A novel mutation in PRDM5 in brittle cornea syndrome

scientific article published on 29 November 2011

A novel mutation in SLC25A46 causes optic atrophy and progressive limb spasticity, with no cerebellar atrophy or axonal neuropathy.

scientific article published on 30 March 2017

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

scientific article published on 6 March 2015

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency

scientific article published on 20 April 2013

A novel syndrome of lethal familial hyperekplexia associated with brain malformation

scientific article

A novel syndromic form of sensory-motor polyneuropathy is linked to chromosome 22q13.31-q13.33

scientific article published on 01 February 2011

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

scientific article published on 27 December 2019

A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype

scientific article

A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder

scientific article

A null mutation in TNIK defines a novel locus for intellectual disability

scientific article

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

scientific article published on 28 July 2011

A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation

scientific article published on 13 January 2014

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome

scientific article published on 23 July 2013

ADAT3-related intellectual disability: Further delineation of the phenotype

scientific article published on 3 February 2016

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

scientific article published in 2022

ANKS3 is mutated in a family with autosomal recessive laterality defect

scientific article

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.

scientific article

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies

scientific article

Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort

scientific article published on 3 December 2015

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

scientific article

An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17.

scientific article published on 18 October 2010

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia

scientific article published on 04 May 2020

An intellectual disability-associated missense variant in TRMT1 impairs tRNA modification and reconstitution of enzymatic activity

scientific article published on 16 January 2020

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

scientific article published on 17 June 2020

Arthrogryposis, perthes disease, and upward gaze palsy: A novel autosomal recessive syndromic form of arthrogryposis ⬇️

scientific article published on December 22, 2010

Author Correction: A human ciliopathy reveals essential functions for NEK10 in airway mucociliary clearance

scientific article published on 01 February 2020

Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.

scientific article published on 30 October 2014

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

scientific article published on July 2016

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

scientific article published on September 2016

Autozygome decoded ⬇️

scientific article published on December 1, 2010

Autozygome maps dispensable DNA and reveals potential selective bias against nullizygosity

scientific article

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

scientific article

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

scientific article

Autozygosity mapping with exome sequence data

scientific article

Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

scientific article published on 22 March 2018

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

scientific article published on 22 June 2020

Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia

scientific article published on 26 March 2019

Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

scientific article published on 29 July 2019

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition

scientific article published on 14 September 2020

Biometric and molecular characterization of clinically diagnosed posterior microphthalmos

scientific article published on 3 November 2012

Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

scientific article published in October 2010

Brittle Cornea Syndrome ZNF469 Mutation Carrier Phenotype and Segregation Analysis of Rare ZNF469 Variants in Familial Keratoconus

article

Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation.

scientific article

C19orf12 mutation leads to a pallido-pyramidal syndrome.

scientific article published on 17 December 2013

C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.

scientific article

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

scientific article

CNP deficiency causes severe hypomyelinating leukodystrophy in humans

scientific article published on 03 March 2020

CORRIGENDUM: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

scientific article published on 4 January 2018

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children

scientific article

Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator

scientific article published on 28 September 2016

Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: Insight into the pathogenesis and the relationship to polyposis through the WNT and BMP antagonistic pathways

scientific article published on 20 December 2018

Characterization of Apparently Balanced Chromosomal Rearrangements from the Developmental Genome Anatomy Project

scientific article published on 5 September 2008

Characterization of CTNS mutations in Arab patients with cystinosis

scientific article published in December 2009

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

scientific article published on 18 July 2016

Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project

scientific article published on March 2008

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation

scientific article published on 14 June 2013

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

scientific article published on 25 November 2013

Clinical Characterization of LRPAP1-Related Pediatric High Myopia.

scientific article

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

scientific article published on 19 January 2012

Clinical characterisation of the CABP4-related retinal phenotype

scientific article published on 25 October 2012

Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience

scientific article published on 27 March 2019

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

scientific article

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

scientific article published on 01 January 2011

Complementation of hypersensitivity to DNA interstrand crosslinking agents demonstrates that XRCC2 is a Fanconi anaemia gene

scientific article published on 20 May 2016

Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype

scientific article published on 14 June 2013

Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements

scientific article

Confirming TBC1D32-related ciliopathy in humans

scientific article published on 23 June 2020

Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome

scientific article published on 27 December 2020

Confirming the recessive inheritance of PERP-related erythrokeratoderma

scientific article published on 12 January 2020

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

scientific article published on 20 February 2017

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

scientific article published on 21 November 2011

Congenital disorders of glycosylation: The Saudi experience

scientific article published on 25 July 2017

Congenital glaucoma and CYP1B1: an old story revisited

scientific article published on 19 March 2018

Congenital glaucoma with acquired peripheral circumferential iris degeneration

scientific article published on 28 January 2013

Congenital hepatic fibrosis in a child with Prader-Willi syndrome: a novel association

scientific article published on 01 January 2014

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

scientific article

Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations

scientific article published in December 2015

Corneal decompensation in recessive cornea plana

scientific article published in September 2009

Corneal enlargement without optic disk cupping in children with recessive CYP1B1 mutations

scientific article published on 07 November 2013

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

Crisponi/CISS1 syndrome: A case series

scientific article published on 24 January 2016

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification

scientific article published on 19 May 2020

De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

scientific article published on 29 November 2016

Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting

scientific article published on 15 July 2011

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

scientific article published on 15 June 2018

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome ⬇️

scientific article

Discovery of mutations for Mendelian disorders

scientific article published on 11 April 2016

Discovery of rare homozygous mutations from studies of consanguineous pedigrees

scientific article published on October 2012

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

scientific article published on 6 January 2016

Elevation deficiency in children with recessive RDH12-related retinopathy

scientific article

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

scientific article published on 22 December 2017

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

scientific article published on 22 May 2014

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation

Exome-based case-control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy

scientific article published on 22 December 2015

Expanding the "E" in CHARGE.

scientific article published in July 2008

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

scientific article published on 20 June 2017

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

scientific article

Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2

scientific article published on 09 June 2020

Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome

scientific article published on 27 June 2013

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

scientific article published on 10 September 2015

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 2017

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy

scientific article

Expanding the spectrum of germline variants in cancer

scientific article

FBXL4 is a mitochondria-localized protein in which autosomal recessive mutations cause multiple respiratory chain multisystem disease commonly involving cortical atrophy and leukodystrophy

FBXO32, encoding a member of the SCF complex, is mutated in dilated cardiomyopathy

scientific journal article

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

scientific article published on August 2010

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

scientific article published on September 2009

Familial dorsalization of the skin of the proximal palm and the instep of the sole of the foot ⬇️

scientific article published on March 28, 2012

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

scientific article published on 01 April 2011

Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation

scientific article

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

scientific article

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

scientific article published on 24 July 2009

Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement

scientific article published in January 2005

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

scientific article

Further Delineation of the ALG9-CDG Phenotype

scientific article published on 10 October 2015

Further delineation of HIDEA syndrome

scientific article published on 23 September 2020

Further delineation of METTL23-associated intellectual disability

scientific article published on 18 February 2020

Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism

scientific article published on 11 November 2020

Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities

scientific article published on 31 January 2018

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

scientific article published on 12 May 2011

GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition

scientific journal article

GOLGA2, encoding a master regulator of golgi apparatus, is mutated in a patient with a neuromuscular disorder

scientific article

GWAS signals revisited using human knockouts

scientific article published on 22 June 2017

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

scientific article published on May 2017

Genetic Investigation of 93 Families with Microphthalmia or Posterior Microphthalmos.

scientific article published on 16 February 2018

Genetic heterogeneity in type III familial cutaneous syndactyly and linkage to chromosome 7q36

scientific article published on 17 May 2013

Genetic profiling of children with advanced cholestatic liver disease.

scientific article published on 30 December 2016

Genetics and genomic medicine in Saudi Arabia

scientific article

Genome-wide association study of chronic hepatitis B virus infection reveals a novel candidate risk allele on 11q22.3.

scientific article published on 24 September 2013

Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis

scientific article published on 26 May 2016

Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

scientific article published on 21 November 2012

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

scientific article

Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes

scientific article published on 30 August 2012

Genomic analysis of primordial dwarfism reveals novel disease genes

scientific article published on 03 January 2014

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

Gonadal mosaicism as a rare cause of autosomal recessive inheritance

scientific article published on 22 April 2013

Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

scientific article published on 30 May 2016

Helicoid subretinal fibrosis associated with a novel recessive NR2E3 mutation p.S44X.

scientific article published in March 2010

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders

scientific article published on 16 June 2015

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

scientific article published on April 2010

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures

scientific article

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

scientific article published on 22 July 2019

Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature

scientific article

Homozygous null mutation in ODZ3 causes microphthalmia in humans

scientific article

Homozygous truncation of SIX6 causes complex microphthalmia in humans.

scientific article

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly.

scientific article published in May 2011

Human knockout research: new horizons and opportunities

scientific article

Human knockouts of PLA2G4A phenocopy NSAID-induced gastrointestinal and renal toxicity

scientific article published on 24 June 2016

Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]

scientific article

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

scientific article

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

scientific article

Identification of ADAMTS18 as a gene mutated in Knobloch syndrome

scientific article

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

scientific article

Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain

scientific article published on 2 November 2012

Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

scientific article

Identification of a novel DLX5 mutation in a family with autosomal recessive split hand and foot malformation

scientific article

Identification of a novel MKS locus defined by TMEM107 mutation

scientific article published on 29 June 2015

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype

scientific article published on 23 September 2012

Identification of a novel lethal form of autosomal recessive ichthyosis caused by UDP-glucose ceramide glucosyltransferase deficiency.

scientific article published on 8 February 2018

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

scientific article

Identification of differentially expressed proteins in the aqueous humor of primary congenital glaucoma

scientific article published on 13 November 2010

Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families

scientific article published on 3 June 2015

Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants

scientific article published on 25 September 2018

Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience ⬇️

scientific article published on March 17, 2013

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency

scientific article

Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

scientific article published in January 2017

In search of triallelism in Bardet–Biedl syndrome ⬇️

scientific article published on February 22, 2012

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy

scientific article published on 6 October 2016

Indigenous Arabs have an intermediate frequency of a Neanderthal-derived COVID-19 risk haplotype compared with other world populations

scientific article published on 27 November 2020

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

scientific article published on May 2017

Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy

scientific article published on 22 May 2015

Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement.

scientific article

Joint laxity in homozygotes for severe POU1F1 mutations

scientific article

Juvenile cataract morphology in 3 siblings not yet diagnosed with cerebrotendinous xanthomatosis

scientific article

KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia

scientific article published on 12 November 2016

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

scientific article

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

scientific article published on 27 December 2017

Katanin p80 regulates human cortical development by limiting centriole and cilia number

scientific article published on December 2014

LOXL3, encoding lysyl oxidase-like 3, is mutated in a family with autosomal recessive Stickler syndrome

scientific article

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

scientific article published on 19 June 2012

Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W).

scientific article published in March 2010

Lens subluxation and retinal dysfunction in a girl with homozygous VSX2 mutation

scientific article published on 03 September 2013

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

scientific article published on 04 October 2012

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

article

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

scientific article published on 30 January 2020

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

scientific article published on 23 October 2011

MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy

scientific article published on 19 September 2019

METTL23, a transcriptional partner of GABPA, is essential for human cognition

scientific article

MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts.

scientific article published in November 2013

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies

scientific article

Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity ⬇️

scientific article published on 01 September 2010

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

scientific article published on 23 July 2012

Molecular autopsy in maternal-fetal medicine

scientific article published on 27 July 2017

Molecular characterization of Joubert syndrome in Saudi Arabia

scientific article published on 11 July 2012

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype

scientific article published on 9 February 2011

Molecular characterization of retinitis pigmentosa in Saudi Arabia

scientific article

Molecular pathogenesis of fibrochondrogenesis: is it really simple COL11A1 deficiency?

scientific article published on 28 September 2012

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

scientific article

Mutation in MPDZ causes severe congenital hydrocephalus.

scientific article published in January 2013

Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis

scientific article

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism

scientific article

Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus

scientific article

Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans

scientific article published on August 2016

Mutation in WDR4 impairs tRNA m(7)G46 methylation and causes a distinct form of microcephalic primordial dwarfism

scientific article

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms

scientific article

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

scientific article published on 5 November 2015

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

scientific article

Mutations in ALDH1A3 cause microphthalmia.

scientific article published on 27 May 2013

Mutations in ASPH cause facial dysmorphism, lens dislocation, anterior-segment abnormalities, and spontaneous filtering blebs, or Traboulsi syndrome

scientific article (publication date: May 2014)

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

scientific article

Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia

scientific article

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans

scientific article published on 8 August 2016

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

scientific article

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

scientific article published on 22 August 2013

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

scientific article published on 05 June 2021

Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice

scientific article

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly

scientific article published on 3 January 2013

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

scientific article published on June 2017

Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice

scientific journal article

Mutations in TMEM231 cause Meckel-Gruber syndrome

scientific article published on 24 January 2013

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

scientific article

Mutations in c12orf57 cause a syndromic form of colobomatous microphthalmia

scientific article

Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

scientific article published on 03 September 2018

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

scientific article

Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome ⬇️

article

Mutations in the RNA granule component TDRD7 cause cataract and glaucoma

scientific article

Mutations in the human UBR1 gene and the associated phenotypic spectrum

scientific article published on 09 April 2014

Mutations of PTPN23 in developmental and epileptic encephalopathy

scientific article published on 31 October 2017

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

scientific article published on 07 January 2014

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

scientific article published on 25 May 2007

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

scientific article published on 26 April 2013

NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness

scientific article published in May 2009

NUP214 deficiency causes severe encephalopathy and microcephaly in humans

scientific article published on 13 February 2019

Natural human knockouts and the era of genotype to phenotype

scientific article

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

scientific article

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin

scientific article published on 06 August 2020

No evidence for locus heterogeneity in Knobloch syndrome

scientific article published on 10 May 2013

No evidence for rare pathological SIAE coding variants in patients with vitiligo

scientific article published on 22 August 2012

Novel CENPJ mutation causes Seckel syndrome

scientific article

Novel FGD1 mutation underlying Aarskog-Scott syndrome with myopathy and distal arthropathy

scientific article published on January 2013

Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia

scientific article published on 10 December 2013

Novel copy number variants and major limb reduction malformation: Report of three cases

scientific article

Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.

scientific article

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

scientific article published on 22 November 2016

Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations

scientific article

On the phenotypic spectrum of serine biosynthesis defects

scientific article published on 10 March 2016

Overlap between CHARGE and Kabuki syndromes: more than an interesting clinical observation?

scientific article published on 22 October 2014

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins ⬇️

scientific article published on 10 April 2017

PLACK Syndrome is Potentially Treatable with Intralipids

scientific article published on 07 January 2021

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism

scientific article

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

scientific article published on 18 February 2019

Pellagra-like condition is xeroderma pigmentosum/Cockayne syndrome complex and niacin confers clinical benefit.

scientific article published on 20 December 2013

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy

scientific article published on 17 June 2019

Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies

scientific article published on 13 January 2020

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

scientific article published on 29 April 2016

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

scientific article published on 9 January 2012

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

scientific article

Phenotypic Characterization of KCTD3-related Developmental Epileptic Encephalopathy

scientific article

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients

scientific article

Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome

scientific article published on 02 December 2019

Phenotypic expansion of OTUD6B-related syndrome

scientific article published on 17 March 2020

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

scientific article published on 23 February 2015

Posterior microphthalmos as a genetically heterogeneous condition that can be allelic to nanophthalmos

scientific article

Preclinical potency and safety studies of an AAV2-mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa.

scientific article published on March 2013

Primordial dwarfism: an update

scientific article published on February 2015

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

scientific article published in August 2018

RGS6: a novel gene associated with congenital cataract, mental retardation, and microcephaly in a Tunisian family

scientific article

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

scientific article published on 18 November 2015

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome

scientific article (publication date: 12 August 2011)

Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia

scientific article

Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.

scientific article published on 3 December 2014

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans

scientific article published on 20 January 2020

Recurrent miscarriage in a carrier of a balanced cytogenetically undetectable subtelomeric rearrangement: how many are we missing?

scientific article published on 01 March 2006

Report of a case of Raine syndrome and literature review

scientific article published on 14 May 2015

Response to Yehia et al

scientific article published on March 2017

Revisiting disease genes based on whole-exome sequencing in consanguineous populations

scientific article published on 4 July 2015

Revisiting the morbid genome of Mendelian disorders

scientific article published on 24 November 2016

Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

scientific article published on 12 May 2011

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

scientific article

SUMO1 haploinsufficiency leads to cleft lip and palate

scientific article

Saudi genetic ophthalmology research: The local and global impact

scientific article published on 08 February 2010

Severe CNS involvement in WWOX mutations: Description of five new cases

scientific article published on 8 September 2015

Simple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data

scientific article

Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?

scientific article published in August 2005

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

scientific article published on 21 August 2014

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

scientific article published on October 2012

Study of consanguineous populations can improve the annotation of SNP databases

scientific article published on 28 October 2010

Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

scientific article published on 19 September 2020

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

scientific article

T (brachyury) is linked to a Mendelian form of neural tube defects in humans

scientific article

TLE6 mutation causes the earliest known human embryonic lethality

scientific article

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder

scientific article

The RPGRIP1-related retinal phenotype in children

scientific article published on 16 March 2013

The WNT7A G204S mutation is associated with both Al-Awadi–Raas Rothschild syndrome and Fuhrmann syndrome phenotypes

article

The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome

scientific article

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases ⬇️

scientific article published on 02 August 2013

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

scientific article published on 11 December 2014

The distinct ophthalmic phenotype of Knobloch syndrome in children

scientific article published on 7 March 2012

The genetic landscape of familial congenital hydrocephalus

scientific article published on 26 May 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

scientific article published on 29 February 2024

The journey of exome sequencing from disease mutations discovery to clinical genomics

scientific article

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

scientific article published on 9 June 2017

The many faces of KIF7

scientific article

The many faces of peroxisomal disorders: Lessons from a large Arab cohort

scientific article published on 18 December 2018

The morbid genome of ciliopathies: an update

scientific article published on 14 February 2020

The syndrome dysmorphic facies, renal agenesis, ambiguous genitalia, microcephaly, polydactyly and lissencephaly (DREAM-PL): Report of two additional patients

scientific article published on 2 August 2016

The syndrome of deafness-dystonia: clinical and genetic heterogeneity

scientific article published on 15 February 2013

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18

scientific article

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype

scientific article

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

scientific article

Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA

scientific article published on 27 November 2020

Tyrosine-mutant AAV8 delivery of human MERTK provides long-term retinal preservation in RCS rats.

scientific article published on 06 April 2012

Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility

scientific article

Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families

scientific article published on 22 July 2016

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype

scientific article published on 17 January 2012

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations

scientific article published on 15 December 2015

Variable phenotypic expression of COG6 mutations

scientific article published on 25 March 2014

WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome.

scientific article

WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

scientific article published on 24 May 2013

Warsaw breakage syndrome: Further clinical and genetic delineation

scientific article published on 14 September 2018

Weaver syndrome and defective cortical development: a rare association

scientific article published on 13 December 2012

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

scientific article published on 01 October 2020

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).

scientific article

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