Eric P Hoffman

Eric P Hoffman

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Eric P Hoffman

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Vamorolone trial in Duchenne muscular dystrophy shows dose-related improvement of muscle function.

Neurology 2019 Sep 26;93(13):e1312-e1323. Epub 2019 Aug 26.

From ReveraGen Biopharma (E.P.H., J.M.M., K.N., J.v.d.A., L.S.C., J.M.D.), Rockville, MD; Binghamton University-SUNY (E.P.H., K.N.), NY: Camden Group (B.D.S., L.J.M.-G.), LLC, St. Louis, MO; Duke University (E.C.S.), Durham, NC; University of Texas Southwestern (D.C.), Dallas; Alberta Children's Hospital (J.K.M.), Calgary, Canada; University of California Davis (C.M.M.), Sacramento; Ann & Robert H. Lurie Children's Hospital (N.L.K.), Chicago, IL; Nemours Children's Hospital (R.S.F.), Orlando, FL; John Walton Muscular Dystrophy Research Centre (M.G., K.B.), Newcastle University, Newcastle-Upon-Tyne, UK; Queen Silvia Children's Hospital (M.T.), Gothenburg, Sweden; Schneider Children's Medical Center (Y.N.), Tel Aviv University, Israel; Royal Children's Hospital and Murdoch Children's Research Institute (M.M.R.), Melbourne, Australia; The Children's Hospital at Westmead (R.W.), Sydney, Australia; TRiNDS LLC (A.L.S., L.P.M., A.A., M.S., C.S.), Kensington, MD; Summit Analytical (M.J., P.S.), Denver, CO; Children's National Health System (J.v.d.A., L.S.C., A.C., H.G.-D.), Washington, DC; and University of Pittsburgh and Department of Veterans Affairs Medical Center (P.R.C.), PA.

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http://dx.doi.org/10.1212/WNL.0000000000008168DOI Listing
September 2019

Absolute quantification of dystrophin protein in human muscle biopsies using parallel reaction monitoring (PRM).

J Mass Spectrom 2019 Sep 9. Epub 2019 Sep 9.

Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University, Johnson City, New York.

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http://dx.doi.org/10.1002/jms.4437DOI Listing
September 2019

Developmental Pharmacodynamics and Modeling in Pediatric Drug Development.

J Clin Pharmacol 2019 Sep;59 Suppl 1:S87-S94

ReveraGen BioPharma, Rockville, MD, USA.

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http://dx.doi.org/10.1002/jcph.1482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741426PMC
September 2019

Pharmacotherapy of Duchenne Muscular Dystrophy.

Authors:
Eric P Hoffman

Handb Exp Pharmacol 2019 Aug 3. Epub 2019 Aug 3.

Department of Pharmaceutical Sciences, School of Pharmacy and Pharmaceutical Sciences, Binghamton University State University of New York, Binghamton, NY, USA.

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http://dx.doi.org/10.1007/164_2019_256DOI Listing
August 2019

Population Pharmacokinetics of Vamorolone (VBP15) in Healthy Men and Boys With Duchenne Muscular Dystrophy.

J Clin Pharmacol 2019 Jul 11;59(7):979-988. Epub 2019 Feb 11.

Department of Pharmaceutical Sciences, University at Buffalo, State University of New York, Buffalo, NY, USA.

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http://dx.doi.org/10.1002/jcph.1388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548694PMC
July 2019

Vamorolone targets dual nuclear receptors to treat inflammation and dystrophic cardiomyopathy.

Life Sci Alliance 2019 02 11;2(1). Epub 2019 Feb 11.

Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.26508/lsa.201800186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6371196PMC
February 2019

Asymmetric independence modeling identifies novel gene-environment interactions.

Sci Rep 2019 Feb 21;9(1):2455. Epub 2019 Feb 21.

Department of Electrical and Computer Engineering, Virginia Polytechnic Institute and State University, Arlington, VA, 22203, USA.

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http://dx.doi.org/10.1038/s41598-019-38983-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385186PMC
February 2019

Serum biomarkers of glucocorticoid response and safety in anti-neutrophil cytoplasmic antibody-associated vasculitis and juvenile dermatomyositis.

Steroids 2018 12 21;140:159-166. Epub 2018 Oct 21.

ReveraGen BioPharma, 155 Gibbs St., Suite 433, Rockville, MD 20850, USA; School of Pharmacy and Pharmaceutical Sciences, Binghamton University - SUNY, 4400 Vestal Pkwy E, Binghamton, NY 13902, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0039128X183019
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http://dx.doi.org/10.1016/j.steroids.2018.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6640634PMC
December 2018

Mechanisms of allelic and clinical heterogeneity of lamin A/C phenotypes.

Physiol Genomics 2018 09 11;50(9):694-704. Epub 2018 May 11.

School of Pharmacy and Pharmaceutical Sciences, Binghamton University, State University of New York , Binghamton New York.

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http://dx.doi.org/10.1152/physiolgenomics.00128.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6335092PMC
September 2018

Muscle miRNAome shows suppression of chronic inflammatory miRNAs with both prednisone and vamorolone.

Physiol Genomics 2018 09 8;50(9):735-745. Epub 2018 Jun 8.

Center for Genetic Medicine Research, Children's National Medical Center , Washington, District of Columbia.

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http://dx.doi.org/10.1152/physiolgenomics.00134.2017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172612PMC
September 2018

Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.

Mol Ther 2018 09 27;26(9):2231-2242. Epub 2018 Aug 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Genomics and Precision Medicine, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2018.07.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127637PMC
September 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

Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study.

Lancet 2018 02 22;391(10119):451-461. Epub 2017 Nov 22.

Center for Genetic Medicine, Children's National Health System and the George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S01406736173216
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http://dx.doi.org/10.1016/S0140-6736(17)32160-8DOI Listing
February 2018

Osteopontin is linked with AKT, FoxO1, and myostatin in skeletal muscle cells.

Muscle Nerve 2017 Dec 13;56(6):1119-1127. Epub 2017 Aug 13.

Department of Pharmaceutical Sciences, Binghamton University, State University of New York, Binghamton, New York, USA.

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http://dx.doi.org/10.1002/mus.25752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690863PMC
December 2017

Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Authors:
M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Salomaa Suzanne Satterfield Eric E Schadt Sabine Schipf Laura Scott Joban Sehmi Jian Shen Chan Soo Shin Gunnar Sigurdsson Shad Smith Nicole Soranzo Alena Stančáková Elisabeth Steinhagen-Thiessen Elizabeth A Streeten Unnur Styrkarsdottir Karin M A Swart Sian-Tsung Tan Mark A Tarnopolsky Patricia Thompson Cynthia A Thomson Unnur Thorsteinsdottir Emmi Tikkanen Gregory J Tranah Jaakko Tuomilehto Natasja M van Schoor Arjun Verma Peter Vollenweider Henry Völzke Jean Wactawski-Wende Mark Walker Michael N Weedon Ryan Welch H-Erich Wichmann Elisabeth Widen Frances M K Williams James F Wilson Nicole C Wright Weijia Xie Lei Yu Yanhua Zhou John C Chambers Angela Döring Cornelia M van Duijn Michael J Econs Vilmundur Gudnason Jaspal S Kooner Bruce M Psaty Timothy D Spector Kari Stefansson Fernando Rivadeneira André G Uitterlinden Nicholas J Wareham Vicky Ossowski Dawn Waterworth Ruth J F Loos David Karasik Tamara B Harris Claes Ohlsson Douglas P Kiel

Nat Commun 2017 11 7;8(1):1414. Epub 2017 Nov 7.

Hebrew SeniorLife, Institute for Aging Research, Roslindale, MA, 02131, USA.

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http://dx.doi.org/10.1038/s41467-017-01008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676783PMC
November 2017

Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Authors:
M Carola Zillikens Serkalem Demissie Yi-Hsiang Hsu Laura M Yerges-Armstrong Wen-Chi Chou Lisette Stolk Gregory Livshits Linda Broer Toby Johnson Daniel L Koller Zoltán Kutalik Jian'an Luan Ida Malkin Janina S Ried Albert V Smith Gudmar Thorleifsson Liesbeth Vandenput Jing Hua Zhao Weihua Zhang Ali Aghdassi Kristina Åkesson Najaf Amin Leslie J Baier Inês Barroso David A Bennett Lars Bertram Rainer Biffar Murielle Bochud Michael Boehnke Ingrid B Borecki Aron S Buchman Liisa Byberg Harry Campbell Natalia Campos Obanda Jane A Cauley Peggy M Cawthon Henna Cederberg Zhao Chen Nam H Cho Hyung Jin Choi Melina Claussnitzer Francis Collins Steven R Cummings Philip L De Jager Ilja Demuth Rosalie A M Dhonukshe-Rutten Luda Diatchenko Gudny Eiriksdottir Anke W Enneman Mike Erdos Johan G Eriksson Joel Eriksson Karol Estrada Daniel S Evans Mary F Feitosa Mao Fu Melissa Garcia Christian Gieger Thomas Girke Nicole L Glazer Harald Grallert Jagvir Grewal Bok-Ghee Han Robert L Hanson Caroline Hayward Albert Hofman Eric P Hoffman Georg Homuth Wen-Chi Hsueh Monica J Hubal Alan Hubbard Kim M Huffman Lise B Husted Thomas Illig Erik Ingelsson Till Ittermann John-Olov Jansson Joanne M Jordan Antti Jula Magnus Karlsson Kay-Tee Khaw Tuomas O Kilpeläinen Norman Klopp Jacqueline S L Kloth Heikki A Koistinen William E Kraus Stephen Kritchevsky Teemu Kuulasmaa Johanna Kuusisto Markku Laakso Jari Lahti Thomas Lang Bente L Langdahl Lenore J Launer Jong-Young Lee Markus M Lerch Joshua R Lewis Lars Lind Cecilia Lindgren Yongmei Liu Tian Liu Youfang Liu Östen Ljunggren Mattias Lorentzon Robert N Luben William Maixner Fiona E McGuigan Carolina Medina-Gomez Thomas Meitinger Håkan Melhus Dan Mellström Simon Melov Karl Michaëlsson Braxton D Mitchell Andrew P Morris Leif Mosekilde Anne Newman Carrie M Nielson Jeffrey R O'Connell Ben A Oostra Eric S Orwoll Aarno Palotie Stephen C J Parker Munro Peacock Markus Perola Annette Peters Ozren Polasek Richard L Prince Katri Räikkönen Stuart H Ralston Samuli Ripatti John A Robbins Jerome I Rotter Igor Rudan Veikko Salomaa Suzanne Satterfield Eric E Schadt Sabine Schipf Laura Scott Joban Sehmi Jian Shen Chan Soo Shin Gunnar Sigurdsson Shad Smith Nicole Soranzo Alena Stančáková Elisabeth Steinhagen-Thiessen Elizabeth A Streeten Unnur Styrkarsdottir Karin M A Swart Sian-Tsung Tan Mark A Tarnopolsky Patricia Thompson Cynthia A Thomson Unnur Thorsteinsdottir Emmi Tikkanen Gregory J Tranah Jaakko Tuomilehto Natasja M van Schoor Arjun Verma Peter Vollenweider Henry Völzke Jean Wactawski-Wende Mark Walker Michael N Weedon Ryan Welch H-Erich Wichmann Elisabeth Widen Frances M K Williams James F Wilson Nicole C Wright Weijia Xie Lei Yu Yanhua Zhou John C Chambers Angela Döring Cornelia M van Duijn Michael J Econs Vilmundur Gudnason Jaspal S Kooner Bruce M Psaty Timothy D Spector Kari Stefansson Fernando Rivadeneira André G Uitterlinden Nicholas J Wareham Vicky Ossowski Dawn Waterworth Ruth J F Loos David Karasik Tamara B Harris Claes Ohlsson Douglas P Kiel

Nat Commun 2017 07 19;8(1):80. Epub 2017 Jul 19.

Hebrew SeniorLife, Institute for Aging Research, Roslindale, MA, 02131, USA.

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http://dx.doi.org/10.1038/s41467-017-00031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517526PMC
July 2017

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.

Nat Commun 2017 01 31;8:14143. Epub 2017 Jan 31.

Institute for Neuroscience and Muscle Research, The Children's Hospital Westmead, New South Wales 2145, Australia.

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http://dx.doi.org/10.1038/ncomms14143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5290331PMC
January 2017

Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes.

Med Sci Sports Exerc 2016 12;48(12):2387-2397

1Research Center for Genetic Medicine, Children's National Medical Center, Durham, NC; 2Division of Rheumatology, Department of Medicine, Duke University School of Medicine, Durham, NC; 3Duke Molecular Physiology Institute, Duke University School of Medicine, Durham, NC; 4Department of Exercise and Nutrition Sciences, George Washington University, WASHINGTON, DC; 5Division of Cardiology, Department of Medicine, Duke University School of Medicine, Durham, NC; and 6Department of Integrative Systems Biology, George Washington University, Washington, DC.

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http://dx.doi.org/10.1249/MSS.0000000000001041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141615PMC
December 2016

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy.

Eur J Hum Genet 2016 10 9;24(10):1511-4. Epub 2016 Mar 9.

Department of Integrative Systems Biology, The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1038/ejhg.2016.22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027673PMC
October 2016

Muscle myeloid type I interferon gene expression may predict therapeutic responses to rituximab in myositis patients.

Rheumatology (Oxford) 2016 09 23;55(9):1673-80. Epub 2016 May 23.

Environmental Autoimmunity Group, National Institute of Environmental Health Sciences, National Institutes of Health, Bethesda, MD, USA

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http://dx.doi.org/10.1093/rheumatology/kew213DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5854096PMC
September 2016

Identification of Pathway-Specific Serum Biomarkers of Response to Glucocorticoid and Infliximab Treatment in Children with Inflammatory Bowel Disease.

Clin Transl Gastroenterol 2016 Sep 15;7(9):e192. Epub 2016 Sep 15.

Research Center for Genetic Medicine, Children's National Health System, Washington, District of Columbia, USA.

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http://dx.doi.org/10.1038/ctg.2016.49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5288595PMC
September 2016

DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study.

Neurology 2016 07 24;87(4):401-9. Epub 2016 Jun 24.

From the Children's National Health System (L.B., L.P.M., H.G.-D., E.P.H., S.C.), Washington, DC; Department of Neuroscience (L.B.), University of Padova, Italy; University of California Davis Medical Center (C.M.M.), Sacramento; and Institute of Human Genetics (S.C.), University Children's Hospital, and Center of Molecular Medicine, University of Cologne, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000002891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977110PMC
July 2016

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

J Hum Genet 2016 Jun 18;61(6):571-3. Epub 2016 Feb 18.

Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/jhg.2016.6DOI Listing
June 2016

Examination of Lifestyle Behaviors and Cardiometabolic Risk Factors in University Students Enrolled in Kinesiology Degree Programs.

J Strength Cond Res 2016 Apr;30(4):1137-46

1Children's National Medical Center, Research Center for Genetic Medicine, Washington, District of Columbia; 2Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada; 3Faculty of Kinesiology, University of Calgary, Calgary, Alberta, Canada; 4Human Performance Laboratory, College of Agriculture, Health and Natural Resources, University of Connecticut, Storrs, Connecticut; and 5Human Performance Laboratory, East Carolina University, Greenville, North Carolina.

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http://dx.doi.org/10.1519/JSC.0000000000000871DOI Listing
April 2016

Clinical utility of serum biomarkers in Duchenne muscular dystrophy.

Clin Proteomics 2016 5;13. Epub 2016 Apr 5.

Center for Genetic Medicine, Children's National Healthy System, Washington, DC USA.

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http://dx.doi.org/10.1186/s12014-016-9109-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820909PMC
April 2016

Laminopathies disrupt epigenomic developmental programs and cell fate.

Sci Transl Med 2016 04;8(335):335ra58

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA. Department of Integrative Systems Biology, The George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA.

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http://dx.doi.org/10.1126/scitranslmed.aad4991DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939618PMC
April 2016

Mathematical modelling of transcriptional heterogeneity identifies novel markers and subpopulations in complex tissues.

Sci Rep 2016 Jan 7;6:18909. Epub 2016 Jan 7.

Department of Electrical and Computer Engineering, Virginia Polytechnic Institute and State University, Arlington, VA 22203, USA.

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http://dx.doi.org/10.1038/srep18909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703969PMC
January 2016

Obesity-Related Genetic Variants and their Associations with Physical Activity.

Sports Med Open 2015;1(1):34. Epub 2015 Oct 15.

Institute for Systems Genomics, University of Connecticut, Storrs, CT 06269 USA ; Department of Kinesiology, University of Connecticut, Storrs, CT 06269 USA.

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http://dx.doi.org/10.1186/s40798-015-0036-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4607705PMC
October 2015

Prednisone/prednisolone and deflazacort regimens in the CINRG Duchenne Natural History Study.

Neurology 2015 Sep 26;85(12):1048-55. Epub 2015 Aug 26.

From the Children's National Medical Center (L.B., H.G.-D., L.P.M., T.D., E.P.H., A.C.), Washington, DC; University of California Davis Medical Center (E.K.H., C.M.M.), Sacramento, CA; and The George Washington University (E.P.H., A.C.), Washington, DC.

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http://dx.doi.org/10.1212/WNL.0000000000001950DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4603595PMC
September 2015

TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy.

Cell Rep 2015 Sep 28;12(10):1678-90. Epub 2015 Aug 28.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.07.066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757433PMC
September 2015

Immune-mediated pathology in Duchenne muscular dystrophy.

Sci Transl Med 2015 Aug;7(299):299rv4

Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Building 71/2238, Silver Spring, MD 20993, USA.

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http://dx.doi.org/10.1126/scitranslmed.aaa7322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5951380PMC
August 2015

Upregulated IL-1β in dysferlin-deficient muscle attenuates regeneration by blunting the response to pro-inflammatory macrophages.

Skelet Muscle 2015 7;5:24. Epub 2015 Aug 7.

Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010 USA.

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http://dx.doi.org/10.1186/s13395-015-0048-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527226PMC
August 2015

Non-invasive MRI and spectroscopy of mdx mice reveal temporal changes in dystrophic muscle imaging and in energy deficits.

PLoS One 2014 12;9(11):e112477. Epub 2014 Nov 12.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, D.C., United States of America; Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, D.C., United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112477PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4229202PMC
July 2015

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine.

Eur J Hum Genet 2015 Jun 3;23(6):883-6. Epub 2014 Sep 3.

1] Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Sydney, New South Wales, Australia [2] Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/ejhg.2014.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795062PMC
June 2015

Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of the National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy.

Circulation 2015 May;131(18):1590-8

From Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL (E.M.M.); Division of Cardiovascular Sciences, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (J.R.K., G.D.P.); Division of Cardiology, Children's Hospital of Wisconsin, Milwaukee (D.W.B.); Department of Pediatrics, Washington University, St. Louis, MO (C.E.C.); The Heart Center, Nationwide Children's Hospital, Columbus, OH (L.H.C., N.K.); Department of Molecular Microbiology and Immunology, School of Medicine, University of Missouri, Columbia (D.D.); Division of Pulmonary Medicine, Children's Hospital of Pittsburgh, PA (J.D.F.); Center for Genetic Medicine Research (E.P.H.) and Division of Cardiology, Children's National Heart Institute, Center for Genetic Medicine Research (C.F.S.), Children's National Health System, Washington, DC; Division of Cardiology, Johns Hopkins School of Medicine, Baltimore, MD (D.P.J.); Parent Project Muscular Dystrophy, Middletown, OH (K.K.); Division of Cardiac Critical Care, Children's Hospital of Philadelphia, PA (R.K.); Department of Integrative Biology and Physiology, University of Minnesota Medical School, Minneapolis (J.M.M.); Department of Molecular and Cellular Biochemistry (J.A.R.-F.) and Division of Cardiovascular Medicine (S.V.R.), Ohio State University, Columbus; Division of Cardiovascular and Renal Products, US Food and Drug Administration, Silver Spring, MD (S.L.T.); Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD (K.R.W.); and Division of Pediatric Cardiology, Department of Pediatrics, Vanderbilt University, Nashville, TN (L.W.M.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.114.015151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573596PMC
May 2015

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study.

Ann Neurol 2015 Apr 13;77(4):684-96. Epub 2015 Mar 13.

Children's National Medical Center, Washington, DC; Department of Neuroscience (Neurological, Psychiatric, Sensory, Reconstructive, Rehabilitative Science), University of Padua, Padua, Italy.

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http://dx.doi.org/10.1002/ana.24370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4403971PMC
April 2015

Global gene expression profiling in R155H knock-in murine model of VCP disease.

Clin Transl Sci 2015 Feb 12;8(1):8-16. Epub 2014 Nov 12.

Department of Pediatrics, Division of Genetics and Metabolism, University of California-Irvine, Irvine, California, USA.

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http://dx.doi.org/10.1111/cts.12241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4329058PMC
February 2015

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.

Pediatr Neurol 2015 Feb 5;52(2):239-44. Epub 2014 Oct 5.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC; Department of Neurology and Neurological Sciences, Stanford University Medical Center, Palo Alto, California. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2014.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4351714PMC
February 2015

KDDN: an open-source Cytoscape app for constructing differential dependency networks with significant rewiring.

Bioinformatics 2015 Jan 30;31(2):287-9. Epub 2014 Sep 30.

Department of Electrical & Computer Engineering, Virginia Tech, Arlington, VA 22203, Departments of Pathology and Oncology, Johns Hopkins University, Baltimore, MD 21231, Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC 20010, Lombardi Comprehensive Cancer Center, Georgetown University, Washington, DC 20057 and Department of Medicine, Wake Forest University, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1093/bioinformatics/btu632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287948PMC
January 2015

The use of urinary and kidney SILAM proteomics to monitor kidney response to high dose morpholino oligonucleotides in the mdx mouse.

Toxicol Rep 2015;2:838-849

The Centers for Genetic Medicine Research and Translational Science, Children's Research Institute, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.toxrep.2015.05.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4512206PMC
January 2015

Rhinovirus infection in young children is associated with elevated airway TSLP levels.

Eur Respir J 2014 Oct 25;44(4):1075-8. Epub 2014 Jun 25.

Division of Pulmonary and Sleep Medicine, Children's National Medical Center, Washington, DC, USA Dept of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, DC, USA Dept of Integrative Systems Biology, George Washington University, Washington, DC, USA Center for Genetic Research Medicine, Children's National Medical Center, Washington, DC, USA

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http://dx.doi.org/10.1183/09031936.00049214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4183718PMC
October 2014

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy.

J Cell Biol 2014 Oct;207(1):139-58

Center for Genetic Medicine Research, Children's National Medical Center, and Department of Integrative Systems Biology, George Washington University, Washington, DC 20010 Center for Genetic Medicine Research, Children's National Medical Center, and Department of Integrative Systems Biology, George Washington University, Washington, DC 20010

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http://jcb.rupress.org/content/207/1/139.full.pdf
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http://www.jcb.org/lookup/doi/10.1083/jcb.201402079
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http://dx.doi.org/10.1083/jcb.201402079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4195829PMC
October 2014

Eccentric muscle challenge shows osteopontin polymorphism modulation of muscle damage.

Hum Mol Genet 2014 Aug 13;23(15):4043-50. Epub 2014 Mar 13.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, USA.

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http://dx.doi.org/10.1093/hmg/ddu118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082368PMC
August 2014

Exon-skipping therapy: a roadblock, detour, or bump in the road?

Sci Transl Med 2014 Apr;6(230):230fs14

Center for Genetic Medicine Research, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA.

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http://dx.doi.org/10.1126/scitranslmed.3008873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464785PMC
April 2014

The proton pump inhibitor lansoprazole improves the skeletal phenotype in dystrophin deficient mdx mice.

PLoS One 2013 2;8(7):e66617. Epub 2013 Jul 2.

Center for Genetic Medicine Research, Children's National Medical Center, Department of Integrative Systems Biology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0066617PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699610PMC
January 2014

Sparing of the dystrophin-deficient cranial sartorius muscle is associated with classical and novel hypertrophy pathways in GRMD dogs.

Am J Pathol 2013 Nov;183(5):1411-24

Department of Integrative Systems Biology, George Washington University School of Medicine, Washington, District of Columbia; Research Center for Genetic Medicine, Children's National Medical Center, Washington, District of Columbia.

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http://dx.doi.org/10.1016/j.ajpath.2013.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3814684PMC
November 2013

Orphan drug development in muscular dystrophy: update on two large clinical trials of dystrophin rescue therapies.

Discov Med 2013 Nov;16(89):233-9

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA and Department of Integrative Systems Biology, George Washington University School of Medicine, Washington, DC 20037, USA.

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November 2013

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Circ Cardiovasc Genet 2013 Aug 14;6(4):427-34. Epub 2013 Jul 14.

Department of Integrative Systems Biology, The George Washington University School of Medicine, Washington, DC, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4116683PMC
August 2013

Accurate Quantitation of Dystrophin Protein in Human Skeletal Muscle Using Mass Spectrometry.

J Bioanal Biomed 2012 Dec;Suppl 7

Children's National Medical Center, Center for Genetic Medicine Research, USA ; Department of Integrative Systems Biology, The George Washington University, 2300 Eye Street, N.W., Ross 605, Washington, D.C. USA.

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http://dx.doi.org/10.4172/1948-593X.S7-001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642779PMC
December 2012