Daniel Macarthur

Daniel Macarthur

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Daniel Macarthur

Publications by authors named "Daniel Macarthur"

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Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin.

Eur J Hum Genet 2019 Aug 25;27(8):1267-1273. Epub 2019 Apr 25.

Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW, 2145, Australia.

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http://dx.doi.org/10.1038/s41431-019-0393-6DOI Listing
August 2019

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6-18 October 2015.

Neuromuscul Disord 2019 Jul 13. Epub 2019 Jul 13.

National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.nmd.2019.07.002DOI Listing
July 2019

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41436-018-0104-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075PMC
March 2019

Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture.

Am J Hum Genet 2019 Jan;104(1):187-190

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College Centre for Translational and Experimental Medicine, London, W12 0NN, UK; National Institute for Health Research Royal Brompton Cardiovascular Research Centre, Royal Brompton and Harefield National Health Service Foundation Trust, London, SW7 2AZ, UK; Medical Research Council London Institute of Medical Sciences, Imperial College London, London, W12 0NN, UK; Program in Medical and Population Genetics, Broad Institute of the Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323549PMC
January 2019

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.

J Am Soc Nephrol 2018 Sep 24;29(9):2348-2361. Epub 2018 Aug 24.

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts;

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http://www.jasn.org/lookup/doi/10.1681/ASN.2017121265
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http://dx.doi.org/10.1681/ASN.2017121265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6115658PMC
September 2018

A synthetic-diploid benchmark for accurate variant-calling evaluation.

Nat Methods 2018 08 16;15(8):595-597. Epub 2018 Jul 16.

Broad Institute of Harvard and MIT, Cambridge, MA, USA.

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http://dx.doi.org/10.1038/s41592-018-0054-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341484PMC
August 2018

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.

Genome Res 2018 07 1;28(7):968-974. Epub 2018 Jun 1.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1101/gr.231902.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028136PMC
July 2018

A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.

Neuromuscul Disord 2018 07 16;28(7):614-618. Epub 2018 May 16.

The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1016/j.nmd.2018.04.012DOI Listing
July 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

MEGF10 related myopathies: A new case with adult onset disease with prominent respiratory failure and review of reported phenotypes.

Neuromuscul Disord 2018 01 12;28(1):48-53. Epub 2017 Oct 12.

John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.09.017DOI Listing
January 2018

A 'second truncation' in TTN causes early onset recessive muscular dystrophy.

Neuromuscul Disord 2017 Nov 22;27(11):1009-1017. Epub 2017 Jun 22.

Newcastle University, John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, Newcastle upon Tyne, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2017.06.013DOI Listing
November 2017

A Loss-of-Function Splice Acceptor Variant in Is Protective for Type 2 Diabetes.

Diabetes 2017 11 24;66(11):2903-2914. Epub 2017 Aug 24.

Broad Metabolism Program and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA

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http://dx.doi.org/10.2337/db17-0187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5652606PMC
November 2017

Corrigendum: High-throughput discovery of novel developmental phenotypes.

Nature 2017 11 8;551(7680):398. Epub 2017 Nov 8.

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http://dx.doi.org/10.1038/nature24643DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849394PMC
November 2017

Using high-resolution variant frequencies to empower clinical genome interpretation.

Genet Med 2017 10 18;19(10):1151-1158. Epub 2017 May 18.

Cardiovascular Genetics and Genomics, National Heart and Lung Institute, Imperial College London, London, UK.

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http://dx.doi.org/10.1038/gim.2017.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563454PMC
October 2017

A 'limb-girdle muscular dystrophy' responsive to asthma therapy.

Pract Neurol 2017 Aug 22;17(4):327-331. Epub 2017 Apr 22.

Department of Neurology, Auckland City Hospital, Auckland, New Zealand.

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http://dx.doi.org/10.1136/practneurol-2017-001598DOI Listing
August 2017

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

Nat Commun 2017 07 12;8:16015. Epub 2017 Jul 12.

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Cambridge CB2 0QQ, UK.

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http://dx.doi.org/10.1038/ncomms16015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510175PMC
July 2017

Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

ClinVar data parsing.

Wellcome Open Res 2017 23;2:33. Epub 2017 May 23.

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, 02114, USA.

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http://dx.doi.org/10.12688/wellcomeopenres.11640.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473414PMC
May 2017

Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium.

J Allergy Clin Immunol 2017 02 5;139(2):690-692.e3. Epub 2016 Sep 5.

Division of Immunology, Children's Hospital, Harvard Medical School, Boston, Mass; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Harvard Medical School, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303162PMC
February 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

Human disease genomics: from variants to biology.

Genome Biol 2017 01 30;18(1):20. Epub 2017 Jan 30.

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.

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http://dx.doi.org/10.1186/s13059-017-1160-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278570PMC
January 2017

Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Muscle Nerve 2016 10 24;54(4):690-5. Epub 2016 Aug 24.

Division of Pediatric Neurology, University of Florida College of Medicine, PO Box 100296, Gainesville, Florida, USA, 32610.

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http://dx.doi.org/10.1002/mus.25094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5453499PMC
October 2016

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Nat Genet 2016 10 17;48(10):1107-11. Epub 2016 Aug 17.

Division of Psychiatric Genomics, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/ng.3638DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042837PMC
October 2016

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

Neurology 2016 Oct 2;87(14):1442-1448. Epub 2016 Sep 2.

From the Institute for Neuroscience and Muscle Research (G.L.O., M.Y., N.P., H.A.B., T.B.D., K.N.N., N.F.C., S.T.C.), Kids Research Institute, T.Y. Department of Neurology (M.M., R.W.), and Heart Centre for Children (C.T.), Children's Hospital at Westmead, Sydney; Discipline of Paediatrics and Child Health (G.L.O., M.M., H.A.B., K.N.N., N.F.C., S.T.C.), Faculty of Medicine, University of Sydney, Australia; Departments of Genetics (C.V.) and Child Neurology (J.M.F.), University of Groningen University Medical Center Groningen, the Netherlands; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology (M.L., D.G.M.), Cambridge; Department of Neurology (A.G.E.), Mayo Clinic, Rochester, MN; Murdoch Children's Research Institute (K.N.N.), Royal Children's Hospital, Victoria, Australia; and Department of Human Genetics (E.-J.K.), Radboud University Medical Center, Nijmegen, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000003179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5075972PMC
October 2016

Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis.

Neuron 2016 Oct;92(2):336-338

Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1016/j.neuron.2016.09.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5123684PMC
October 2016

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

High-throughput discovery of novel developmental phenotypes.

Nature 2016 09 14;537(7621):508-514. Epub 2016 Sep 14.

The Jackson Laboratory, Bar Harbor, Maine 04609, USA.

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http://dx.doi.org/10.1038/nature19356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295821PMC
September 2016

Prominent scapulae mimicking an inherited myopathy expands the phenotype of CHD7-related disease.

Eur J Hum Genet 2016 08 27;24(8):1216-9. Epub 2016 Jan 27.

Institute for Neuroscience and Muscle Research, Kids Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2015.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970689PMC
August 2016

TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy.

Neuromuscul Disord 2016 08 24;26(8):500-3. Epub 2016 May 24.

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, NSW 2006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2016.05.013DOI Listing
August 2016

A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Nat Commun 2016 08 9;7:12342. Epub 2016 Aug 9.

Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania 15261, USA.

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http://dx.doi.org/10.1038/ncomms12342DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4980482PMC
August 2016

Analysis of protein-coding genetic variation in 60,706 humans.

Nature 2016 08;536(7616):285-91

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

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http://www.nature.com/articles/nature19057
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http://dx.doi.org/10.1038/nature19057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018207PMC
August 2016

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Ann Neurol 2016 07 25;80(1):101-11. Epub 2016 May 25.

Institute for Neuroscience and Muscle Research, Kids Research Institute, Children's Hospital at Westmead, Westmead, New South Wales, Australia.

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http://dx.doi.org/10.1002/ana.24687DOI Listing
July 2016

Safety and efficacy of radiofrequency wire recanalization of chronic central venous occlusions.

J Vasc Access 2015 Jul-Aug;16(4):309-14. Epub 2015 Feb 4.

Department of Radiology, Tufts Medical Center, Boston, Massachusetts - USA.

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http://dx.doi.org/10.5301/jva.5000360DOI Listing
May 2016

Superheroes of disease resistance.

Authors:
Daniel MacArthur

Nat Biotechnol 2016 05 11;34(5):512-3. Epub 2016 Apr 11.

Massachusetts General Hospital, Boston, Massachusetts, USA, and the Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/nbt.3555DOI Listing
May 2016

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

Hum Mol Genet 2016 Mar 17;25(5):866-77. Epub 2015 Dec 17.

Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, Sydney, NSW 2145, Australia, Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, NSW 2006, Australia, Murdoch Children's Research Institute, Melbourne, Vic 3052, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia,

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http://dx.doi.org/10.1093/hmg/ddv613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754040PMC
March 2016

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

Neurology 2016 Jan 30;86(4):391-8. Epub 2015 Dec 30.

From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.

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http://dx.doi.org/10.1212/WNL.0000000000002324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776089PMC
January 2016

RNAseq analysis for the diagnosis of muscular dystrophy.

Ann Clin Transl Neurol 2016 01 8;3(1):55-60. Epub 2015 Dec 8.

Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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http://dx.doi.org/10.1002/acn3.267DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4704476PMC
January 2016

Quantifying prion disease penetrance using large population control cohorts.

Sci Transl Med 2016 Jan;8(322):322ra9

Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology (MIT) and Harvard, Cambridge, MA 02142, USA. Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad5169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774245PMC
January 2016

An eMERGE Clinical Center at Partners Personalized Medicine.

J Pers Med 2016 Jan 20;6(1). Epub 2016 Jan 20.

Partners Personalized Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

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http://dx.doi.org/10.3390/jpm6010005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4810384PMC
January 2016

Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

JAMA Neurol 2015 Dec;72(12):1424-32

Institute for Neuroscience and Muscle Research, Kid's Research Institute, Children's Hospital at Westmead, Sydney, New South Wales, Australia2Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales.

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http://dx.doi.org/10.1001/jamaneurol.2015.2274DOI Listing
December 2015

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.

Hum Mutat 2015 May 26;36(5):513-23. Epub 2015 Mar 26.

Machine Learning and Computational Biology Research Group, Max Planck Institute for Intelligent Systems and Max Planck Institute for Developmental Biology, Tübingen, Germany; Zentrum für Bioinformatik, Eberhard Karls Universität Tübingen, Tübingen, Germany; Department for Biosystems Science and Engineering, ETH Zürich, Basel, Switzerland.

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https://orca-mwe.cf.ac.uk/84063/1/Grimm_et_al-2015-Human_Mut
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http://doi.wiley.com/10.1002/humu.22768
Publisher Site
http://dx.doi.org/10.1002/humu.22768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4409520PMC
May 2015

Response.

Neuromuscul Disord 2015 Apr 29;25(4):360. Epub 2014 Dec 29.

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http://dx.doi.org/10.1016/j.nmd.2014.12.008DOI Listing
April 2015

A framework for the interpretation of de novo mutation in human disease.

Nat Genet 2014 Sep 3;46(9):944-50. Epub 2014 Aug 3.

1] Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. [2] Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA. [3] Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222185PMC
September 2014

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Neuromuscul Disord 2014 Aug 4;24(8):666-70. Epub 2014 May 4.

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

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http://dx.doi.org/10.1016/j.nmd.2014.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4096049PMC
August 2014

Distribution and medical impact of loss-of-function variants in the Finnish founder population.

PLoS Genet 2014 Jul 31;10(7):e1004494. Epub 2014 Jul 31.

Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland; Psychiatric & Neurodevelopmental Genetics Unit, Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117444PMC
July 2014

Allelic expression of deleterious protein-coding variants across human tissues.

PLoS Genet 2014 May 1;10(5):e1004304. Epub 2014 May 1.

Department of Pathology, Stanford University School of Medicine, Stanford, California, United States of America; Department of Genetics, Stanford University School of Medicine, Stanford, California, United States of America; Department of Computer Science, Stanford University School of Medicine, Stanford, California, United States of America.

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http://dx.plos.org/10.1371/journal.pgen.1004304
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http://dx.doi.org/10.1371/journal.pgen.1004304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4006732PMC
May 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

The Challenge of Next Generation Sequencing in the Context of Neuromuscular Diseases.

J Neuromuscul Dis 2014;1(2):135-149

Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

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January 2014