Thomas Scerri

Thomas Scerri

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Thomas Scerri

Thomas Scerri

Publications by authors named "Thomas Scerri"

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Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Am J Hum Genet 2015 Sep 13;97(3):389-403. Epub 2015 Aug 13.

Center for Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Freiburg 79108, Germany; Institute of Immunity and Transplantation, University College London, London WC1E 6BT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564940PMC
September 2015

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Neurology 2015 May 15;84(20):2029-32. Epub 2015 Apr 15.

From the Departments of Neurology (R.J.L., A.S.H.), Neurosurgery (W.M.), and Anatomical Pathology (D.M.), The Royal Children's Hospital, Melbourne; Department of Pediatrics (R.J.L., A.S.H., M.B.D., D.J.A., P.J.L.), The University of Melbourne; Bioinformatics Division (T.S., M.B.), The Walter and Eliza Hall Institute of Medical Research, Melbourne; Bruce Lefroy Centre for Genetic Health Research (A.P.L.M., K.P., G.G., M.B.D., D.J.A., P.J.L.), Murdoch Childrens Research Institute (R.J.L., A.S.H.), Melbourne; Clinical Genetics (M.B.D.), Austin Health, Melbourne, Australia; and Shriners Hospital Pediatric Research Center (P.C.), Temple University, Philadelphia, PA.

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http://www.neurology.org/content/84/20/2029.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000159
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http://dx.doi.org/10.1212/WNL.0000000000001594DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442098PMC
May 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.

Ann Clin Transl Neurol 2015 May 12;2(5):575-80. Epub 2015 Mar 12.

Department of Pediatrics, University of Melbourne Melbourne, Australia ; Murdoch Childrens Research Institute Melbourne, Australia ; Department of Neurology, Royal Children's Hospital Melbourne, Australia.

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http://dx.doi.org/10.1002/acn3.191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4435711PMC
May 2015

Common variants in left/right asymmetry genes and pathways are associated with relative hand skill.

PLoS Genet 2013 12;9(9):e1003751. Epub 2013 Sep 12.

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom ; MRC Functional Genomics Unit, Department of Physiology, Anatomy & Genetics, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1003751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772043PMC
March 2014

Genetics of developmental dyslexia.

Eur Child Adolesc Psychiatry 2010 Mar 29;19(3):179-97. Epub 2009 Nov 29.

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, UK.

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http://dx.doi.org/10.1007/s00787-009-0081-0DOI Listing
March 2010

Association of the KIAA0319 dyslexia susceptibility gene with reading skills in the general population.

Am J Psychiatry 2008 Dec 1;165(12):1576-84. Epub 2008 Oct 1.

Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, OX3 7BN Oxford, UK.

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http://dx.doi.org/10.1176/appi.ajp.2008.07121872DOI Listing
December 2008

The genetic lexicon of dyslexia.

Annu Rev Genomics Hum Genet 2007 ;8:57-79

Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, United Kingdom.

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http://dx.doi.org/10.1146/annurev.genom.8.080706.092312DOI Listing
December 2007