Brenda J Barry

Brenda J Barry

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Brenda J Barry

Brenda J Barry

Publications by authors named "Brenda J Barry"

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Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.

J AAPOS 2019 Sep 18. Epub 2019 Sep 18.

Department of Ophthalmology, Boston Children's Hospital/Harvard Medical School, Boston, Massachusetts. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2019.05.018DOI Listing
September 2019

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura.

Dev Cell 2017 09 30;42(5):445-461.e5. Epub 2017 Aug 30.

Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA 02115, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2017.07.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5595652PMC
September 2017

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

Am J Med Genet A 2015 Dec 14;167A(12):3096-102. Epub 2015 Sep 14.

Department of Neurology, University of Rochester Medical Center, Rochester, New York.

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http://dx.doi.org/10.1002/ajmg.a.37353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715619PMC
December 2015

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

Ann Neurol 2015 Apr 26;77(4):720-5. Epub 2015 Feb 26.

Division of Genetics and Genomics, Department of Medicine, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA; Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard University, Cambridge, MA.

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http://dx.doi.org/10.1002/ana.24357DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4471336PMC
April 2015

Somatic mutations in cerebral cortical malformations.

N Engl J Med 2014 Aug;371(8):733-43

From the Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Institute (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), and the Departments of Laboratory Medicine (J.W., Y.S., B.L.W.) and Neurology (M.S., A.P.), Boston Children's Hospital, the Departments of Pediatrics (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W.), Neurology (S.S.J., A.-T.N.L., A.M.D., B.J.B., X.Z., R.S.H., J.N.P., A.R., S.S., B.K.M., T.W.Y., C.A.W., M.S., A.P.), and Pathology (Y.S., B.L.W.), Harvard Medical School, the Department of Neurology, Beth Israel Deaconess Medical Center (B.S.C.), and the Department of Neurology, Massachusetts General Hospital (T.W.Y.) - all in Boston; the Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore (S.S.J.); the Department of Genome Sciences, University of Washington, Seattle (M.K., M.B., D.A.N., J.S.); the Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai (J.W., Y.S.); the Division of Neurology, Department of Pediatrics, Hacettepe University School of Medicine, Sihhiye, Ankara, Turkey (M.T.); the Neurogenetics Unit, Montreal Neurological Hospital and Institute, Department of Neurology and Neurosurgery (D.A., E.A.) and Department of Human Genetics (E.A.), McGill University, Montreal; the Department of Neurology, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels (B.D.); the Pediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Florence, Italy (E.P., R.G.); the Department of Medicine, University of Melbourne, Austin Health, Heidelberg (I.E.S., S.F.B.), Department of Paediatrics, Royal Children's Hospital, University of Melbourne, and the Florey Institute of Neuroscience and Mental Health, Melbourne (I.E.S.), and the Department of Neurology, Royal Children's Hospital, Murdoch Children'

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http://dx.doi.org/10.1056/NEJMoa1314432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274952PMC
August 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.

Am J Med Genet A 2010 Nov;152A(11):2736-42

Department of Neurology, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1002/ajmg.a.33684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2965295PMC
November 2010