Publications by authors named "May Tassabehji"

30Publications

Hardy-Weinberg Equilibrium in the Large Scale Genomic Sequencing Era.

Front Genet 2020 13;11:210. Epub 2020 Mar 13.

Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.

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http://dx.doi.org/10.3389/fgene.2020.00210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083100PMC
March 2020

GeVIR is a continuous gene-level metric that uses variant distribution patterns to prioritize disease candidate genes.

Nat Genet 2020 01 23;52(1):35-39. Epub 2019 Dec 23.

School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1038/s41588-019-0560-2DOI Listing
January 2020

Functional basic reading skills in Williams syndrome.

Dev Neuropsychol 2018 30;43(5):454-477. Epub 2018 Mar 30.

a Psychology Department , Macquarie University , Sydney , Australia.

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http://dx.doi.org/10.1080/87565641.2018.1455838DOI Listing
July 2018

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

Eur J Med Genet 2015 Sep 20;58(9):455-65. Epub 2015 Jul 20.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK; Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.003DOI Listing
September 2015

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.

J Med Genet 2014 Oct 12;51(10):635-45. Epub 2014 Aug 12.

Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102476DOI Listing
October 2014

Rapamycin inhibits smooth muscle cell proliferation and obstructive arteriopathy attributable to elastin deficiency.

Arterioscler Thromb Vasc Biol 2013 May 14;33(5):1028-35. Epub 2013 Mar 14.

Department of Surgery, Interdepartmental Program in Vascular Biology and Therapeutics, Yale University School of Medicine, New Haven, CT, USA.

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http://dx.doi.org/10.1161/ATVBAHA.112.300407DOI Listing
May 2013

Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome.

Behav Brain Res 2012 Aug 28;233(2):458-73. Epub 2012 May 28.

Experimental Psychology, University of Oxford, Oxford OX1 3UD, UK.

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http://dx.doi.org/10.1016/j.bbr.2012.05.014DOI Listing
August 2012

DNA copy number variations at chromosome 7p14.1 and chromosome 14q11.2 are associated with dupuytren's disease: potential role for MMP and Wnt signaling pathway.

Plast Reconstr Surg 2012 Apr;129(4):921-32

Plastic and Reconstructive Surgery Research, Manchester Interdisciplinary Biocentre, University of Manchester, 131 Princess Street, Manchester M1 7DN, United Kingdom.

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http://dx.doi.org/10.1097/PRS.0b013e3182442343DOI Listing
April 2012

Claudin 13, a member of the claudin family regulated in mouse stress induced erythropoiesis.

PLoS One 2010 Sep 10;5(9). Epub 2010 Sep 10.

Cancer Immunogenetics, University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0012667PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2937028PMC
September 2010

Genome-wide high-resolution screening in Dupuytren's disease reveals common regions of DNA copy number alterations.

J Hand Surg Am 2010 Jul 19;35(7):1172-1183.e7. Epub 2010 Jun 19.

Plastic and Reconstructive Surgery Research, School of Translational Medicine, Manchester Interdisciplinary Biocentre, University of Manchester, Manchester M17ND, UK.

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http://dx.doi.org/10.1016/j.jhsa.2010.03.006DOI Listing
July 2010

Inefficient search of large-scale space in Williams syndrome: further insights on the role of LIMK1 deletion in deficits of spatial cognition.

Perception 2009 ;38(5):694-701

Department of Experimental Psychology, University of Bristol, 12a Priory Road, Bristol BS8 1TN, UK.

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http://dx.doi.org/10.1068/p6050DOI Listing
January 2010

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.

Am J Med Genet A 2008 Dec;146A(23):3034-7

Academic Department of Medical Genetics, University of Manchester, and Regional Genetics Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.32564DOI Listing
December 2008

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

N Engl J Med 2008 Oct 10;359(16):1685-99. Epub 2008 Sep 10.

University of Washington School of Medicine, Seattle 98195, USA.

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http://dx.doi.org/10.1056/NEJMoa0805384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2703742PMC
October 2008

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.

Hum Mutat 2008 Aug;29(8):1017-27

Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1002/humu.20741DOI Listing
August 2008

Congenital heart disease: Molecular diagnostics of supravalvular aortic stenosis.

Methods Mol Med 2006 ;126:129-56

Academic Unit of Medical Genetics, The University of Manchester, St Mary's Hospital, Manchester, United Kingdom.

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http://dx.doi.org/10.1385/1-59745-088-X:129DOI Listing
December 2006

GTF2IRD1 in craniofacial development of humans and mice.

Science 2005 Nov 3;310(5751):1184-7. Epub 2005 Nov 3.

Academic Unit of Medical Genetics, University of Manchester, St. Mary's Hospital, Manchester M13 9PL, UK.

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http://dx.doi.org/10.1126/science.1116142DOI Listing
November 2005

In-depth analysis of spatial cognition in Williams syndrome: A critical assessment of the role of the LIMK1 gene.

Neuropsychologia 2006 10;44(5):679-85. Epub 2005 Oct 10.

Psychology Department, Royal Holloway, University of London, UK.

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http://dx.doi.org/10.1016/j.neuropsychologia.2005.08.007DOI Listing
June 2006

Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.

Clin Dysmorphol 2005 Apr;14(2):61-5

Academic Unit of Medical Genetics and Regional Genetics Service, The University of Manchester, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1097/00019605-200504000-00002DOI Listing
April 2005

Comparison of TFII-I gene family members deleted in Williams-Beuren syndrome.

Protein Sci 2004 Oct;13(10):2588-99

Academic Department of Medical Genetics, St. Mary's Hospital, Hathersage Road, Manchester, M13 0JH, UK.

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http://dx.doi.org/10.1110/ps.04747604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2286546PMC
October 2004

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Eur J Hum Genet 2004 Jul;12(7):551-60

University of Manchester, Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/sj.ejhg.5201174DOI Listing
July 2004