James F Gusella

James F Gusella

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James F Gusella

James F Gusella

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A rare case of acquired immunodeficiency associated with myelodysplastic syndrome.

Mol Genet Genomic Med 2019 Nov 10;7(11):e923. Epub 2019 Sep 10.

Department of Medical Genetics, Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

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http://dx.doi.org/10.1002/mgg3.923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825869PMC
November 2019

Full sequence of mutant huntingtin 3'-untranslated region and modulation of its gene regulatory activity by endogenous microRNA.

J Hum Genet 2019 Oct 11;64(10):995-1004. Epub 2019 Jul 11.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1038/s10038-019-0639-8DOI Listing
October 2019

Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.

Hum Mol Genet 2019 Feb 15. Epub 2019 Feb 15.

Division of Neurobiology, Departments of Psychiatry, Neurology, Pharmacology, and Neuroscience, Johns Hopkins University School of Medicine, 600 North Wolfe Street, CMSC 8-121, Baltimore, Maryland 21287 USA.

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http://dx.doi.org/10.1093/hmg/ddy430DOI Listing
February 2019

A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.

Am J Med Genet B Neuropsychiatr Genet 2018 09 4;177(6):589-595. Epub 2018 Aug 4.

Genetic and Metabolic Central Laboratory, Birth Defect Prevention Research Institute, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.

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http://dx.doi.org/10.1002/ajmg.b.32673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445570PMC
September 2018

Genetic Modification of Huntington Disease Acts Early in the Prediagnosis Phase.

Am J Hum Genet 2018 09 16;103(3):349-357. Epub 2018 Aug 16.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Medical and Population Genetics Program, the Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524551/
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https://linkinghub.elsevier.com/retrieve/pii/S00029297183024
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http://dx.doi.org/10.1016/j.ajhg.2018.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6128248PMC
September 2018

Opposing Tumor-Promoting and -Suppressive Functions of Rictor/mTORC2 Signaling in Adult Glioma and Pediatric SHH Medulloblastoma.

Cell Rep 2018 07;24(2):463-478.e5

Cellular and Molecular Biology Graduate Program, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI 48109, USA; Gilbert Family Neurofibromatosis Institute, Children's National Medical Center, Washington, DC 20010, USA; Center for Cancer and Immunology Research, Children's National Medical Center, Washington, DC 20010, USA; Center for Neuroscience Research, Children's National Medical Center, Washington, DC 20010, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2018.06.050DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116735PMC
July 2018

Population-specific genetic modification of Huntington's disease in Venezuela.

PLoS Genet 2018 05 11;14(5):e1007274. Epub 2018 May 11.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1007274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965898PMC
May 2018

Haplotype-based stratification of Huntington's disease.

Eur J Hum Genet 2017 11 23;25(11):1202-1209. Epub 2017 Aug 23.

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1038/ejhg.2017.125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643960PMC
November 2017

A modifier of Huntington's disease onset at the MLH1 locus.

Hum Mol Genet 2017 10;26(19):3859-3867

Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddx286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6455020PMC
October 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

2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.

Authors:
James F Gusella

Am J Hum Genet 2017 Mar;100(3):387-394

Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.01.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5339079PMC
March 2017

A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.

Sci Rep 2017 03 23;7:44271. Epub 2017 Mar 23.

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, China.

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http://dx.doi.org/10.1038/srep44271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5363064PMC
March 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

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.

Hum Mol Genet 2016 10;25(20):4566-4576

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1093/hmg/ddw286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078600PMC
October 2016

CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.

Brain 2016 06 5;139(Pt 6):1666-72. Epub 2016 May 5.

2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1093/brain/aww066DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892751PMC
June 2016

Actin capping protein CAPZB regulates cell morphology, differentiation, and neural crest migration in craniofacial morphogenesis†.

Hum Mol Genet 2016 Apr 11;25(7):1255-70. Epub 2016 Jan 11.

Center for Regenerative Medicine, Division of Plastic and Reconstructive Surgery, Harvard Medical School, Harvard University, Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddw006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4787901PMC
April 2016

Huntingtin Supplies a csaA-Independent Function Essential for EDTA-Resistant Homotypic Cell Adhesion in Dictyostelium discoideum.

J Huntingtons Dis 2014 ;3(3):261-71

Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.3233/JHD-140112DOI Listing
February 2016

The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease.

Am J Hum Genet 2016 Feb;98(2):287-98

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Medical and Population Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Genetic Modifiers of Huntington's Disease Consortium. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746370PMC
February 2016

Heritability of Risk for Sudden Cardiac Arrest in ESRD.

J Am Soc Nephrol 2015 Nov 16;26(11):2815-20. Epub 2015 Apr 16.

Clinical Research Division, Fresenius Medical Care North America, Waltham, Massachusetts.

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http://dx.doi.org/10.1681/ASN.2014090881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4625678PMC
November 2015

Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.

J Clin Endocrinol Metab 2015 Oct 24;100(10):E1378-85. Epub 2015 Jul 24.

Harvard Reproductive Endocrine Sciences Center and Reproductive Endocrine Unit (J.-H.C., R.B., N.D.S., J.E.H., L.P., C.L.B., W.F.C.), and Department of Medicine, Psychiatric, and Neurodevelopmental Genetics Unit (P.H.L.), Analytic and Translational Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, and Center for Human Genetic Research (J.F.G.), Massachusetts General Hospital, and Department of Genetics, Harvard Medical School, Boston, Massachusetts Boston, Massachusetts 02114; Department of Genetics (M.-L.K.), University Hospital, Caen, 14003, Caen Cedex, France; Department of Biology and Pathology of Human Reproduction in Bialystok (K.J.), Institute of Animal Reproduction and Food Research, Polish Academy of Sciences, Olsztyn, and Department of Reproduction and Gynecological Endocrinology (S.W.), Medical University of Bialystok, Sklodowskiej 24A, 15-276 Bialystok, Poland; Institute for Genetic Medicine (R.Q.), Newcastle University, Newcastle-upon-Tyne, NE1 3BZ, United Kingdom; Disciplina de Endocrinologia (A.C.L.), Hospital das Clinicas da Faculdade de Medicina, Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil; Laboratoire de Biochimie et Génétique Moléculaire (C.D.), Hôpital Cochin, Assistance Publique-Hôpitaux de Paris, Université Paris-Descartes, 75014 Paris, France; Departments of Molecular Endocrinology and Pediatrics (T.O.), Hamamatsu University of School of Medicine, Hamamatsu 431-3192, Japan; Section of Reproductive Endocrinology, Infertility, and Genetics (H.-G.K., L.C.L.), Departments of Obstetrics and Gynecology and Neuroscience and Regenerative Medicine, Medical College of Georgia at Georgia Regents University, Augusta, Georgia 30912; and Department of Pediatrics (J.-H.C.), Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul 138-736, Republic of Korea.

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http://dx.doi.org/10.1210/jc.2015-2262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596034PMC
October 2015

Sequence-Level Analysis of the Major European Huntington Disease Haplotype.

Am J Hum Genet 2015 Sep 27;97(3):435-44. Epub 2015 Aug 27.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ajhg.2015.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564985PMC
September 2015

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.

Am J Hum Genet 2015 Jul 18;97(1):170-6. Epub 2015 Jun 18.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Neurology, Harvard Medical School, Boston, MA 02114, USA; Program in Medical and Population Genetics and Genomics Platform, Broad Institute of Harvard and MIT, Cambridge, MA 02141, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571023PMC
July 2015

Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder.

Bipolar Disord 2015 Jun 26;17(4):403-8. Epub 2015 Feb 26.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA.

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http://dx.doi.org/10.1111/bdi.12289DOI Listing
June 2015

Huntington disease.

Nat Rev Dis Primers 2015 04 23;1:15005. Epub 2015 Apr 23.

Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrdp.2015.5DOI Listing
April 2015

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Am J Med Genet B Neuropsychiatr Genet 2015 Mar 5;168B(2):135-43. Epub 2015 Feb 5.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA; UnIGENe, IBMC-Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1002/ajmg.b.32289DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5006842PMC
March 2015

The Drosophila Huntington's disease gene ortholog dhtt influences chromatin regulation during development.

Hum Mol Genet 2015 Jan 28;24(2):330-45. Epub 2014 Aug 28.

Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge St., Boston, MA 02114, USA

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http://dx.doi.org/10.1093/hmg/ddu446DOI Listing
January 2015

Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes.

Harv Rev Psychiatry 2014 Mar-Apr;22(2):65-75

From Harvard Medical School (Drs. Talkowski and Gusella); Department of Neurology (Drs. Talkowski and Gusella), Psychiatric and Neurodevelopmental Genetics Unit (Dr. Talkowski) and Molecular Neurogenetics Unit, Center for Human Genetic Research (Drs. Talkowski and Gusella, and Mr. Minikel), Massachusetts General Hospital, Boston, MA.

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http://dx.doi.org/10.1097/HRP.0000000000000002DOI Listing
December 2014

Cryptic and complex chromosomal aberrations in early-onset neuropsychiatric disorders.

Am J Hum Genet 2014 Oct;95(4):454-61

Psychiatric and Neurodevelopmental Genetics Unit, Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, Broad Institute, Cambridge, MA 02141, USA; Department of Psychiatry, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.09.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185111PMC
October 2014

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Proc Natl Acad Sci U S A 2014 Oct 7;111(42):E4468-77. Epub 2014 Oct 7.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114; Departments of Neurology and Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142

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http://dx.doi.org/10.1073/pnas.1405266111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4210312PMC
October 2014

Genetic modifiers of Huntington's disease.

Mov Disord 2014 Sep 25;29(11):1359-65. Epub 2014 Aug 25.

Molecular Neurogenetics Unit, Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/mds.26001DOI Listing
September 2014

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Am J Hum Genet 2014 Jun;94(6):870-83

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA; Departments of Neurology, Genetics, Psychiatry, and Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02141, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121471PMC
June 2014

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Am J Hum Genet 2014 May 17;94(5):695-709. Epub 2014 Apr 17.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067557PMC
May 2014

MicroRNAs located in the Hox gene clusters are implicated in huntington's disease pathogenesis.

PLoS Genet 2014 Feb 27;10(2):e1004188. Epub 2014 Feb 27.

Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, United States of America ; Genome Science Institute, Boston University School of Medicine, Boston, Massachusetts, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3937267PMC
February 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.

Hum Mol Genet 2013 May 31;22(9):1816-25. Epub 2013 Jan 31.

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1093/hmg/ddt035DOI Listing
May 2013

Fine-mapping of restless legs locus 4 (RLS4) identifies a haplotype over the SPATS2L and KCTD18 genes.

J Mol Neurosci 2013 Mar 2;49(3):600-5. Epub 2012 Oct 2.

Center for Biomedicine, European Academy Bozen/Bolzano (EURAC) (Affiliated institute of the University of Lübeck), Drususallee 1, 39100, Bozen/Bolzano, Italy.

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http://dx.doi.org/10.1007/s12031-012-9891-5DOI Listing
March 2013

Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Mol Autism 2013 Mar 20;4(1). Epub 2013 Mar 20.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1186/2040-2392-4-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3610211PMC
March 2013

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Hum Mol Genet 2012 Dec 4;21(24):5239-45. Epub 2012 Sep 4.

Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.

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http://dx.doi.org/10.1093/hmg/dds370DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510754PMC
December 2012

Regulation of mTOR complex 2 signaling in neurofibromatosis 2-deficient target cell types.

Mol Cancer Res 2012 May 16;10(5):649-59. Epub 2012 Mar 16.

Center for Human Genetic Research, Massachusetts General Hospital, Richard B. Simches Research Building, 185 Cambridge Street, Boston, MA 02114, USA.

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http://dx.doi.org/10.1158/1541-7786.MCR-11-0425-TDOI Listing
May 2012

Age- and gender-dependent obesity in individuals with 16p11.2 deletion.

J Genet Genomics 2011 Sep 17;38(9):403-9. Epub 2011 Aug 17.

Department of Laboratory Medicine, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.jgg.2011.08.003DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011