Alan Beggs

Alan Beggs

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Alan Beggs

Alan Beggs

Publications by authors named "Alan Beggs"

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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 Oct 9. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
October 2019

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Eur J Hum Genet 2019 Sep 12;27(9):1398-1405. Epub 2019 Apr 12.

Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1038/s41431-019-0401-xDOI Listing
September 2019

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Arch Dis Child 2019 Sep 4. Epub 2019 Sep 4.

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

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http://dx.doi.org/10.1136/archdischild-2019-317910DOI Listing
September 2019

-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing.

Cold Spring Harb Mol Case Stud 2019 Aug 1;5(4). Epub 2019 Aug 1.

Division of Genetics and Genomics, The 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.a004184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672024PMC
August 2019

The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.

Dev Cell 2019 Apr 28;49(1):10-29. Epub 2019 Mar 28.

Department of Biomedical Informatics, University of Cincinnati College of Medicine, and Cincinnati Children's Hospital Medical Center, Division of Biomedical Informatics, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1016/j.devcel.2019.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6616346PMC
April 2019

Expanding the phenotypic spectrum associated with OPHN1 variants.

Eur J Med Genet 2019 Feb 28;62(2):137-143. Epub 2018 Jun 28.

Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310103PMC
February 2019

Challenging the Current Recommendations for Carrier Testing in Children.

Pediatrics 2019 01;143(Suppl 1):S27-S32

Division of Genetics and Genomics and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts;

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http://dx.doi.org/10.1542/peds.2018-1099FDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433123PMC
January 2019

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.

Pediatrics 2019 01;143(Suppl 1):S37-S43

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1542/peds.2018-1099HDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433124PMC
January 2019

Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.

Am J Hum Genet 2019 Jan;104(1):76-93

Harvard Medical School, Boston, MA 02115, USA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323417PMC
January 2019

Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens.

J Neuromuscul Dis 2019 ;6(3):271-287

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

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http://dx.doi.org/10.3233/JND-190389DOI Listing
January 2019

An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish.

PLoS One 2018 26;13(6):e0199712. Epub 2018 Jun 26.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199712PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019105PMC
December 2018

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 12 11;176(12):2768-2776. Epub 2018 Dec 11.

Office of the Clinical Director, NHGRI, and NIH Undiagnosed Diseases Program, Office of the Director, National Institutes of Health, Bethesda, Maryland.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40628
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http://dx.doi.org/10.1002/ajmg.a.40628DOI Listing
December 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

Sarcomeric and nonmuscle α-actinin isoforms exhibit differential dynamics at skeletal muscle Z-lines.

Cytoskeleton (Hoboken) 2018 05 1;75(5):213-228. Epub 2018 Apr 1.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, 02115.

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http://doi.wiley.com/10.1002/cm.21442
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http://dx.doi.org/10.1002/cm.21442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943145PMC
May 2018

Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.

Muscle Nerve 2017 Nov 22;56(5):943-953. Epub 2017 May 22.

Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/mus.25658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620115PMC
November 2017

A natural history study of X-linked myotubular myopathy.

Neurology 2017 Sep 25;89(13):1355-1364. Epub 2017 Aug 25.

From the Division of Neurology (K.A., E.T., C.-T.N., J.J.D.) and Program for Genetics and Genome Biology (E.T., J.J.D.), Hospital for Sick Children; Departments of Paediatrics (K.A., J.J.D.), Computer Science (M.G.), and Molecular Genetics (J.J.D.), University of Toronto, Ontario, Canada; Cure CMD (R.A., S.d.C., A.R.), Torrance, CA; Autodesk Research (M.G.), Toronto, Ontario, Canada; Kaiser SCPMG (A.R.), Torrance, CA; Physical Medicine and Rehabilitation (J.H.), University of Michigan, Ann Arbor; and Division of Genetics and Genomics (A.H.B.), The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA.

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http://dx.doi.org/10.1212/WNL.0000000000004415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649758PMC
September 2017

A curated gene list for reporting results of newborn genomic sequencing.

Genet Med 2017 07 12;19(7):809-818. Epub 2017 Jan 12.

Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5507765PMC
July 2017

Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

Muscle Nerve 2017 05 3;55(5):761-765. Epub 2017 Feb 3.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.

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http://dx.doi.org/10.1002/mus.25416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5366284PMC
May 2017

A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop.

J Clin Neuromuscul Dis 2017 Mar;18(3):147-151

*Pediatric Neurology Unit, Hacettepe University School of Medicine, Ankara, Turkey; and †Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1097/CND.0000000000000132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5436270PMC
March 2017

SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures.

Pediatr Neurol 2016 11 28;64:77-79. Epub 2016 Jul 28.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223550PMC
November 2016

Expectation versus Reality: The Impact of Utility on Emotional Outcomes after Returning Individualized Genetic Research Results in Pediatric Rare Disease Research, a Qualitative Interview Study.

PLoS One 2016 15;11(4):e0153597. Epub 2016 Apr 15.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0153597PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833284PMC
September 2016

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Cold Spring Harb Mol Case Stud 2016 Sep;2(5):a001008

Developmental Neuropsychiatry Research Program, Department of Psychiatry, Boston Children's Hospital, Boston, Massachusetts 02115, USA;; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/mcs.a001008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5002930PMC
September 2016

Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.

Am J Pathol 2016 06 18;186(6):1568-81. Epub 2016 Apr 18.

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin; Neuroscience Research Center, Medical College of Wisconsin, Milwaukee, Wisconsin. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2016.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901141PMC
June 2016

Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration.

PLoS One 2015 13;10(4):e0123829. Epub 2015 Apr 13.

Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, United States of America; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123829PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395318PMC
February 2016

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Neurogenetics 2016 Jan 22;17(1):11-6. Epub 2015 Sep 22.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10048-015-0460-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911217PMC
January 2016

Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.

J Cancer 2016 1;7(1):32-6. Epub 2016 Jan 1.

1. Boston Children's Hospital, Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA ; 2. Harvard Medical School, Boston, MA, USA ; 6. Broad Institute, Cambridge, MA, USA.

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http://dx.doi.org/10.7150/jca.13292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4679378PMC
January 2016

Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.

Hum Mol Genet 2015 Nov 24;24(22):6278-92. Epub 2015 Aug 24.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Westmead, Australia, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia.

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http://dx.doi.org/10.1093/hmg/ddv334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614700PMC
November 2015

Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs.

Ann Transl Med 2015 Oct;3(17):257

1 Department of Rehabilitation Medicine, 2 Institute for Stem Cell and Regenerative Medicine, School of Medicine, University of Washington, Seattle, Washington 98109, USA ; 3 The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA ; 4 Généthon, INSERM UMR 951, Evry, France.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.10.01DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4620094PMC
October 2015

Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.

Ann Transl Med 2015 Oct;3(18):262

1 Institute for Stem Cell and Regenerative Medicine, 2 Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, Washington, USA ; 3 Department of Comparative Medicine, University of Washington, Seattle, Washington, USA ; 4 Department of Human Nutrition, Foods and Exercise, Virginia Polytechnic and State University, Blacksburg, Virginia, USA ; 5 Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI, USA ; 6 Department of Physical Therapy, University of Florida, Gainesville, FL, USA ; 7 The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.3978/j.issn.2305-5839.2015.10.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4630545PMC
October 2015

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J Clin Endocrinol Metab 2015 May 17;100(5):1723-30. Epub 2015 Mar 17.

Division of Endocrinology (V.V.T., J.N.H.), Newborn Medicine (K.M.E., P.B.A.), and Genetics and Genomics (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), Department of Medicine, and Gene Discovery Core (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115; Genetics and Metabolism (P.M.J.), Phoenix Children's Hospital, Phoenix, Arizona 85006; and Department of Molecular and Human Genetics (S.H.E.), Baylor College of Medicine, Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-4215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422892PMC
May 2015

Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.

Skelet Muscle 2015 28;5:12. Epub 2015 Apr 28.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center Amsterdam, De Boelelaan 1118, 1081, BT Amsterdam, The Netherlands ; Department of Cellular and Molecular Medicine, University of Arizona, 1333 N. Martin Avenue, Tucson, USA.

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http://arizona.openrepository.com/arizona/bitstream/10150/61
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http://link.springer.com/content/pdf/10.1186%2Fs13395-015-00
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http://www.skeletalmusclejournal.com/content/5/1/12
Publisher Site
http://dx.doi.org/10.1186/s13395-015-0037-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422316PMC
May 2015

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene.

Skelet Muscle 2015 27;5(1). Epub 2015 Jan 27.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave., Boston, MA 02115 USA.

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http://dx.doi.org/10.1186/s13395-014-0025-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320619PMC
February 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

Gait characteristics in a canine model of X-linked myotubular myopathy.

J Neurol Sci 2014 Nov 29;346(1-2):221-6. Epub 2014 Aug 29.

Department of Rehabilitation Medicine, School of Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jns.2014.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253544PMC
November 2014

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

Eur J Hum Genet 2014 Oct 19;22(10):1229-32. Epub 2014 Feb 19.

1] Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [2] Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA [3] The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/ejhg.2014.8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169545PMC
October 2014

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy.

Muscle Nerve 2014 Oct 30;50(4):607-9. Epub 2014 Aug 30.

Department of Neurology, Wake Forest School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina, 27157, USA; Department of Anesthesiology, Section on Critical Care, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA.

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http://dx.doi.org/10.1002/mus.24294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175136PMC
October 2014

SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.

Am J Hum Genet 2014 Aug 31;95(2):218-26. Epub 2014 Jul 31.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129406PMC
August 2014

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.

Hum Mol Genet 2014 Jul 18;23(13):3566-78. Epub 2014 Feb 18.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA

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http://dx.doi.org/10.1093/hmg/ddu067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049309PMC
July 2014

Altered translation of GATA1 in Diamond-Blackfan anemia.

Nat Med 2014 Jul 22;20(7):748-53. Epub 2014 Jun 22.

1] Division of Hematology and Oncology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA. [2] Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA. [3] Whitehead Institute for Biomedical Research, Cambridge, Massachusetts, USA. [4] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [5] Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/nm.3557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4087046PMC
July 2014

Tissue triage and freezing for models of skeletal muscle disease.

J Vis Exp 2014 Jul 15(89). Epub 2014 Jul 15.

Division of Pediatric Pathology, Department of Pathology and Laboratory Medicine, Medical College of Wisconsin;

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http://dx.doi.org/10.3791/51586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215994PMC
July 2014

Kelch proteins: emerging roles in skeletal muscle development and diseases.

Skelet Muscle 2014 1;4:11. Epub 2014 Jun 1.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave., Boston, MA 02115, USA.

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http://dx.doi.org/10.1186/2044-5040-4-11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067060PMC
June 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Approach to the diagnosis of congenital myopathies.

Neuromuscul Disord 2014 Feb 18;24(2):97-116. Epub 2013 Nov 18.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States.

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http://www.joshuafrase.org/uploads/2011-Diagnosis-Congenital
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http://dx.doi.org/10.1016/j.nmd.2013.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5257342PMC
February 2014

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

Eur J Med Genet 2013 Dec 28;56(12):678-82. Epub 2013 Oct 28.

Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.09.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3902017PMC
December 2013

Analysis of skeletal muscle defects in larval zebrafish by birefringence and touch-evoke escape response assays.

J Vis Exp 2013 Dec 13(82):e50925. Epub 2013 Dec 13.

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

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http://dx.doi.org/10.3791/50925DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048356PMC
December 2013

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

Troponin activator augments muscle force in nemaline myopathy patients with nebulin mutations.

J Med Genet 2013 Jun 9;50(6):383-92. Epub 2013 Apr 9.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1136/jmedgenet-2012-101470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865762PMC
June 2013

Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

PLoS Genet 2013 Jun 20;9(6):e1003583. Epub 2013 Jun 20.

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

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http://dx.doi.org/10.1371/journal.pgen.1003583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3688503PMC
June 2013

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

Hum Mol Genet 2013 Apr 9;22(8):1525-38. Epub 2013 Jan 9.

Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddt003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605830PMC
April 2013

A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.

PLoS One 2012 27;7(8):e43794. Epub 2012 Aug 27.

Genomics Program and Division of Genetics, Boston Children's Hospital, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043794PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428294PMC
February 2013

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models.

Dis Model Mech 2012 Nov 24;5(6):852-9. Epub 2012 May 24.

Department of Pediatrics, Taubman Medical Research Institute, University of Michigan Medical Center, Ann Arbor, MI 48109-2200, USA.

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http://dx.doi.org/10.1242/dmm.009746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484867PMC
November 2012

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Eur J Hum Genet 2012 Oct 23;20(10). Epub 2012 May 23.

Laboratoire de Diagnostic Génétique, Faculté de Médecine-CHRU, 1 place de l'Hôpital, Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2012.91DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3449068PMC
October 2012

Muscle function in a canine model of X-linked myotubular myopathy.

Muscle Nerve 2012 Oct;46(4):588-91

Department of Human Nutrition, Foods and Exercise, College of Agriculture & Life Sciences, Virginia Polytechnic and State University, Blacksburg, Virginia, USA 24060.

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http://dx.doi.org/10.1002/mus.23463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3448125PMC
October 2012

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Am J Pathol 2012 Sep 27;181(3):961-8. Epub 2012 Jul 27.

Division of Genetics and the Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.ajpath.2012.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432426PMC
September 2012