Monkol Lek

Monkol Lek

UNVERIFIED PROFILE

Are you Monkol Lek?   Register this Author

Register author
Monkol Lek

Monkol Lek

Publications by authors named "Monkol Lek"

Are you Monkol Lek?   Register this Author

88Publications

4089Reads

13Profile Views

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation.

J Neuromuscul Dis 2019 Aug 31. Epub 2019 Aug 31.

Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3233/JND-190414DOI Listing
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.

View Article

Download full-text PDF

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

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality.

NPJ Genom Med 2019 15;4. Epub 2019 Apr 15.

1Kids Neuroscience Centre, Kids Research, Children's Hospital at Westmead, Sydney, NSW 2145 Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41525-019-0081-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465277PMC
April 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.

View Article

Download full-text PDF

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

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

J Am Soc Nephrol 2018 09 24;29(9):2348-2361. Epub 2018 Aug 24.

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.

Am J Hum Genet 2018 05 26;102(5):845-857. Epub 2018 Apr 26.

Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.03.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986729PMC
May 2018

Whole-exome sequencing identifies mutations in in a mild form of Carey-Fineman-Ziter syndrome.

Neurol Genet 2018 Apr 19;4(2):e226. Epub 2018 Mar 19.

MRC Centre for Neuromuscular Diseases (H.A., A.T., T.E., H.L.), Institute of Genetic Medicine, Newcastle University, England. Dr. Lochmüller is now with Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Germany; Analytic and Translational Genetics Unit (M.L., D.M.), Massachusetts General Hospital, Boston; and Program in Medical and Population Genetics (M.L., D.M.), Broad Institute of Harvard and MIT, Cambridge, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/NXG.0000000000000226DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858950PMC
April 2018

Corrigendum: High-throughput discovery of novel developmental phenotypes.

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/nature19057
Publisher Site
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.

Nat Commun 2014 Sep 4;5:4757. Epub 2014 Sep 4.

1] Department of Psychiatry, University of North Carolina, Chapel Hill, North Carolina 27599, USA [2] Department of Genetics, University of North Carolina, Chapel Hill, North Carolina 27599, USA [3] Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, SE-171 77 Stockholm, Sweden [4].

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms5757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155508PMC
September 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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
http://dx.plos.org/10.1371/journal.pgen.1004304
Publisher Site
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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

Source
January 2014

ACTN3 allele frequency in humans covaries with global latitudinal gradient.

PLoS One 2013 24;8(1):e52282. Epub 2013 Jan 24.

Department of Ecology and Evolutionary Biology, Brown University, Providence, Rhode Island, USA.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0052282PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554748PMC
September 2013

The uncertain road towards genomic medicine.

Trends Genet 2012 Jul 2;28(7):303-5. Epub 2012 Jun 2.

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

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01689525120006
Publisher Site
http://dx.doi.org/10.1016/j.tig.2012.05.001DOI Listing
July 2012

A study of FHL1, BAG3, MATR3, PTRF and TCAP in Australian muscular dystrophy patients.

Neuromuscul Disord 2011 Nov 17;21(11):776-81. Epub 2011 Jun 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.nmd.2011.05.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5210217PMC
November 2011

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

Hum Mol Genet 2011 Aug 2;20(15):2914-27. Epub 2011 May 2.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW 2145, Australia.

View Article

Download full-text PDF

Source
https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddr196DOI Listing
August 2011

Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors.

FEBS Lett 2010 Jul 31;584(14):2974-80. Epub 2010 May 31.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.febslet.2010.05.059DOI Listing
July 2010

Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.

BMC Evol Biol 2010 Jul 29;10:231. Epub 2010 Jul 29.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2148-10-231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923515PMC
July 2010

Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.

Mol Biol Evol 2010 Apr 6;27(4):773-80. Epub 2009 Nov 6.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/molbev/msp268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4125621PMC
April 2010

Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.

Hum Mol Genet 2010 Apr 20;19(7):1335-46. Epub 2010 Jan 20.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddq010DOI Listing
April 2010

The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.

Bioessays 2010 Jan;32(1):17-25

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bies.200900110DOI Listing
January 2010