Publications by authors named "Kyriacos Markianos"

36Publications

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

JIMD Rep 2017 18;35:7-15. Epub 2016 Nov 18.

Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Hunnewell 4, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2016_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585110PMC
November 2016

Ringed sideroblasts in β-thalassemia.

Pediatr Blood Cancer 2017 05 3;64(5). Epub 2016 Nov 3.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/pbc.26324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697724PMC
May 2017

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease.

Cold Spring Harb Mol Case Stud 2016 May;2(3):a000786

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;; Gene Discovery Core, Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA;

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http://dx.doi.org/10.1101/mcs.a000786DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853520PMC
May 2016

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

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

JAMA Neurol 2014 Nov;71(11):1413-20

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts3Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1001/jamaneurol.2014.1432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227917PMC
November 2014

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

Neurology 2013 Oct 23;81(14):1205-14. Epub 2013 Aug 23.

From the Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research (O.C.-B., P.B.A., K.S.-A., E.T.D., L.C.S., K.M., A.H.B.), and Division of Newborn Medicine (P.B.A.), Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Physiology and Sarver Molecular Cardiovascular Research Program (C.H., H.G.), University of Arizona, Tucson; Center for Computational Molecular Biology and Department of Molecular and Cellular Biology and Biochemistry (R.S., W.G.F.), Brown University, Providence, RI; Department of Translational Medicine (N.V., J.L.), IGBMC, INSERM U964, CNRS UMR7104, University of Strasbourg, Illkirch, France; Departments of Pediatrics and Neurology and Neurotherapeutics (S.T.I.), University of Texas Southwestern Medical Center, Dallas; Department of Neurology (P.B.S.), University of California, Los Angeles; Division of Human Genetics (N.S.), Department of Pediatrics, Rhode Island Hospital, Providence; Department of Pediatrics, Division of Pediatric Pathology (J.M.D.), and Department of Pathology and Laboratory Medicine (M.W.L), Medical College of Wisconsin, Milwaukee; Hasbro Children's Hospital (J.M.D.), and Center for Biomedical Engineering (W.G.F.), Brown University, Providence, RI.

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http://dx.doi.org/10.1212/WNL.0b013e3182a6ca62DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3795603PMC
October 2013

A novel rat model of hereditary hemochromatosis due to a mutation in transferrin receptor 2.

Comp Med 2013 Apr;63(2):143-55

Department of Pathology and Laboratory Medicine, Brown University, Providence, Rhode Island, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625055PMC
April 2013

A cryptic subgroup of Anopheles gambiae is highly susceptible to human malaria parasites.

Science 2011 Feb;331(6017):596-8

Institut Pasteur, Unit of Insect Vector Genetics and Genomics, Department of Parasitology and Mycology, 28 rue du Docteur Roux, Paris 75015, France.

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http://dx.doi.org/10.1126/science.1196759DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3065189PMC
February 2011

Finding prostate cancer susceptibility genes.

Annu Rev Genomics Hum Genet 2004 ;5:151-75

Division of Clinical Research1, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109-1024, USA.

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http://dx.doi.org/10.1146/annurev.genom.5.061903.180044DOI Listing
November 2004

Sequence-based linkage analysis.

Am J Hum Genet 2004 Oct 25;75(4):647-53. Epub 2004 Aug 25.

Division of Human Biology, Fred Hutchinson Cancer Research Center, University of Washington, Seattle, WA 98109-1024, USA.

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http://dx.doi.org/10.1086/424888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182051PMC
October 2004