List of works - Anna Rajab

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

scientific article

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

scientific article published on 29 October 2008

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

scientific article published on 01 December 2007

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

scientific article

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

scientific article published in July 2006

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

scientific article published on 10 November 2010

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

scientific article

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman

scientific article

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

scientific article published on 01 December 2015

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

scientific article

Developmental and degenerative features in a complicated spastic paraplegia.

scientific article

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

scientific article published on January 3, 2010

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

scientific article

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

scientific article published on 01 April 2005

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

scientific article

Extended molecular spectrum of beta- and alpha-thalassemia in Oman

scientific article published on 01 January 2010

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

scientific article

Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics ⬇️

scientific article published on 03 July 2013

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

scientific article published in April 2008

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman

scientific article

High-throughput sequencing of microdissected chromosomal regions

scientific article

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

scientific article published on 15 April 2011

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

scientific article

Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency

scientific article published in February 2003

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/ Adult Acute Lymphoblastic Leukemia in Omani Patients

scientific article published on January 2015

Incidence of chromosome abnormalities in the Sultanate of Oman

scientific article published in December 2005

Loss of PCLO function underlies pontocerebellar hypoplasia type III

scientific article

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

scholarly article

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

scientific article published on 01 April 2002

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

scientific article published on 22 August 2013

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

scientific article

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

scientific article published on 06 September 2016

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

scientific article published on 13 October 2015

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

scientific article

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

scientific article

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

scientific article

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

scientific article published in February 2009

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

scientific article published on 27 February 2020

Repository of mutations from Oman: The entry point to a national mutation database

scientific article

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.

scientific article published on 17 April 2013

List of works by Anna Rajab

A gradient of ROR2 protein stability and membrane localization confers brachydactyly type B or Robinow syndrome phenotypes

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

An autosomal recessive form of spastic cerebral palsy (CP) with microcephaly and mental retardation

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots.

Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

Cytogenetic studies in couples with recurrent miscarriage in the Sultanate of Oman

Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Developmental and degenerative features in a complicated spastic paraplegia.

Dosage effect of zero to three functional LBR-genes in vivo and in vitro ⬇️

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

Escobar variant with pursed mouth, creased tongue, ophthalmologic features, and scoliosis in 6 children from Oman

Evolutionarily assembled cis-regulatory module at a human ciliopathy locus

Extended molecular spectrum of beta- and alpha-thalassemia in Oman

Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations

Genetic services and testing in the Sultanate of Oman. Sultanate of Oman steps into modern genetics ⬇️

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman

High-throughput sequencing of microdissected chromosomal regions

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.

Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency

Importance of FISH combined with Morphology, Immunophenotype and Cytogenetic Analysis of Childhood/ Adult Acute Lymphoblastic Leukemia in Omani Patients

Incidence of chromosome abnormalities in the Sultanate of Oman

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci

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

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures

Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival

Repository of mutations from Oman: The entry point to a national mutation database

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1.