Publications by authors named "Anna Rajab"

46Publications

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

Proc Natl Acad Sci U S A 2016 09 6;113(38):E5598-607. Epub 2016 Sep 6.

Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, Providence, RI 02912; Institute for Brain Science, Brown University, Providence, RI 02912; Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, RI 02915;

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035873PMC
http://dx.doi.org/10.1073/pnas.1609221113DOI Listing
September 2016

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

Reprod Biomed Online 2016 Feb 1;32(2):162-9. Epub 2015 Dec 1.

National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman.

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http://dx.doi.org/10.1016/j.rbmo.2015.11.019DOI Listing
February 2016

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

J Med Genet 2015 Sep 5;52(9):607-11. Epub 2015 Jun 5.

NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2015-103083DOI Listing
September 2015

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

Am J Hum Genet 2015 May 9;96(5):709-19. Epub 2015 Apr 9.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570282PMC
May 2015

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Neurology 2015 Apr 1;84(17):1745-50. Epub 2015 Apr 1.

From Monogenic Molecular Genetics (M.Y.A., B.A.C., E.L.B., A.H.C.), University of Exeter Medical School, RILD Wellcome Wolfson Centre, Royal Devon & Exeter NHS Foundation Trust, Exeter; Centre for Human Genetics (M.Y.A., B.A.C., E.L.B., M.A.P., A.H.C.), St. George's, University of London, UK; National Genetic Center (A.R.), Ministry of Health, Muscat, Sultanate of Oman; Division of Genetics and Genomics, Department of Medicine (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), Manton Center for Orphan Disease Research (K.S.-A., J.N.P., R.S.H., G.D.E., S.S., K.M., C.A.W., G.H.M.), and Howard Hughes Medical Institute (J.N.P., R.S.H., G.D.E., S.S., C.A.W.), Boston Children's Hospital; Departments of Pediatrics (K.S.-A., K.M., C.A.W., G.H.M.) and Neurology (C.A.W.), and Program in Biological and Biomedical Sciences (G.D.E.), Harvard Medical School, Boston; Program in Medical and Population Genetics (K.S.-A., K.M., C.A.W.), Broad Institute of MIT and Harvard University, Cambridge, MA; Department of Biology (A.A.-K.), College of Science, Sultan Qaboos University, Sultanate of Oman; Wellcome Trust Sanger Institute (S.A.-T., M.E.H.), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK; Department of Neurology (A.Y.A.-M.), Atkinson Morley Wing, St. George's Hospital, London, UK; and Pediatric Neurology Unit (G.H.M.), Department of Neurology, Massachusetts General Hospital, Boston, MA.

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http://www.walshlab.org/uploads/publications/266/2015neurolo
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http://www.neurology.org/content/84/17/1745.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000152
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http://dx.doi.org/10.1212/WNL.0000000000001523DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424132PMC
April 2015

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

Am J Hum Genet 2013 Sep 22;93(3):555-60. Epub 2013 Aug 22.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.ajhg.2013.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3769930PMC
September 2013

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

J Community Genet 2013 Jul 3;4(3):391-7. Epub 2013 Jul 3.

Genetic Unit, Ministry of Health, Muscat, Sultanate of Oman,

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http://dx.doi.org/10.1007/s12687-013-0153-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3739849PMC
July 2013

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

Bone 2013 Aug 17;55(2):292-7. Epub 2013 Apr 17.

Institute of Medical Genetics and Human Genetics, Charité - Universitaetsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1016/j.bone.2013.04.007DOI Listing
August 2013

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

Hum Mol Genet 2011 Jul 15;20(13):2585-90. Epub 2011 Apr 15.

Department of Pediatrics and Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburgerplatz 1, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddr158DOI Listing
July 2011

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

Hemoglobin 2010 Jan;34(2):127-34

Darsait Molecular Genetics Laboratory, Directorate General of Health Affairs, Muscat, Sultanate of Oman.

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http://dx.doi.org/10.3109/03630261003673147DOI Listing
January 2010

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

Hum Mol Genet 2009 Nov 29;18(21):4013-21. Epub 2009 Jul 29.

Max Planck-Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany.

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http://dx.doi.org/10.1093/hmg/ddp345DOI Listing
November 2009

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

Reprod Biomed Online 2009 Mar;18(3):424-9

Central Public Health Laboratories, Darseit, Muscat, PO Box 393, Postal Code 113, Sultanate of Oman.

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http://dx.doi.org/10.1016/s1472-6483(10)60104-6DOI Listing
March 2009

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

Am J Med Genet A 2008 Apr;146A(8):965-76

Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.

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http://dx.doi.org/10.1002/ajmg.a.32143DOI Listing
April 2008

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

Am J Med Genet A 2007 Dec;143A(23):2761-7

Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman, Oman.

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http://dx.doi.org/10.1002/ajmg.a.31955DOI Listing
December 2007

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

Eur J Hum Genet 2007 Feb 15;15(2):173-8. Epub 2006 Nov 15.

Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201736DOI Listing
February 2007

Incidence of chromosome abnormalities in the Sultanate of Oman.

Saudi Med J 2005 Dec;26(12):1951-7

Department of Public Health Laboratories, Central Public Health Laboratories, Directorate General of Health Services, Ministry of Health, Muscat, Post Box # 393, Postal Code # 113, Sultanate of Oman.

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December 2005

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

Am J Med Genet A 2005 Apr;134A(2):151-7

Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.

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http://dx.doi.org/10.1002/ajmg.a.30583DOI Listing
April 2005

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

Proc Natl Acad Sci U S A 2004 Jul 23;101(27):10155-60. Epub 2004 Jun 23.

Institute of Medical Genetics, Charité University Hospital, Humboldt University, Berlin 13353, Germany.

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http://dx.doi.org/10.1073/pnas.0400334101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC454181PMC
July 2004

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

Thromb Haemost 2003 Feb;89(2):243-8

Department of Biochemistry and Molecular Biology, University of Ferara, Ferrara, Italy.

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February 2003

Heterogeneity for congenital generalized lipodystrophy in seventeen patients from Oman.

Am J Med Genet 2002 Jul;110(3):219-25

Genetic Unit, DGHA, Ministry of Health, Muscat, Sultanate of Oman.

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http://dx.doi.org/10.1002/ajmg.10437DOI Listing
July 2002

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

Diabetes 2002 Apr;51(4):1291-3

Medical Genetics Unit, Department of Child Health, St. George's Hospital Medical School, London, UK.

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http://dx.doi.org/10.2337/diabetes.51.4.1291DOI Listing
April 2002