Susan E Waisbren

Susan E Waisbren

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Susan E Waisbren

Susan E Waisbren

Publications by authors named "Susan E Waisbren"

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Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

N Engl J Med 2019 Oct 9. Epub 2019 Oct 9.

From the Divisions of Genetics and Genomics (J.K., C.H., E.A.L., A.S., J.V., R.L.D., J.C., P.B.A., A.H.B., S.E.W., O.B., T.W.Y.), Newborn Medicine (P.B.A., P.E.G.), and Neuroradiology (P.E.G.), the Departments of Neurology (C.M.E.A., D.K.U., A. Poduri), Anesthesiology, Critical Care and Pain Medicine (L.C., C.B.B.), Physical and Occupational Therapy (A. Pasternak, E.R.B., K.A.P.), and Pharmacy (S.C., A. Patterson), the Institutional Centers for Clinical and Translational Research (A.K., B.B., L.W.), and the Manton Center for Orphan Disease Research (C.A.G., P.B.A., A.H.B.), Boston Children's Hospital (A.K., A.T., M.A., L.M.P., K.D., B.B., L.W., B.D.G., B.L.R., A.B.), the Department of Biomedical Informatics (J.K., P.J.P.), Harvard Medical School (J.K., C.M.E.A., E.A.L., L.C., B.D.G., B.L.R., P.B.A., A.H.B., P.E.G., D.K.U., S.E.W., P.J.P., A. Patterson, A.B., O.B., C.B.B., T.W.Y.), and the Gene Therapy Program (A.B.), Boston Children's and Dana-Farber Cancer and Blood Disorders Center (A.K., B.B., L.W.), Boston, Charles River Laboratories, Wilmington (L.E.B.), and Broad Institute of MIT and Harvard (E.A.L., O.B., T.W.Y.), Cambridge - all in Massachusetts; Charles River Laboratories, Montreal (J.D.); University of Colorado School of Medicine, Aurora (A.L.); Pendergast Consulting, Washington, DC (M.K.P.); Goldkind Consulting, Potomac, MD (S.F.G.); the Department of Neurology Feinberg School of Medicine, Northwestern University, Chicago (N.R.B., K.F., I.S., J.R.M.); the Department of Neurology, University of Rochester Medical Center, Rochester, NY (E.F.A.); Brain Hz Consulting, Del Mar, CA (C.R.); Tyndall Consulting, Wake Forest, NC (K.T.); and Brammer Bio, Alachua, FL (R.O.S.).

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http://dx.doi.org/10.1056/NEJMoa1813279DOI Listing
October 2019

Revising the Psychiatric Phenotype of Homocystinuria.

Genet Med 2019 08 15;21(8):1827-1831. Epub 2019 Jan 15.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

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http://www.nature.com/articles/s41436-018-0419-4
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http://dx.doi.org/10.1038/s41436-018-0419-4DOI Listing
August 2019

Neuropsychological attributes of urea cycle disorders: A systematic review of the literature.

J Inherit Metab Dis 2019 Jul 3. Epub 2019 Jul 3.

Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1002/jimd.12146DOI Listing
July 2019

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

Mol Genet Metab 2019 04 22;126(4):368-376. Epub 2019 Jan 22.

Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.016DOI Listing
April 2019

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events.

J Inherit Metab Dis 2019 Mar 22;42(2):243-253. Epub 2019 Jan 22.

Division of Neuropaediatrics and Inherited Metabolic Diseases, Centre for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/jimd.12013DOI Listing
March 2019

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD Rep 2019 Mar 14;46(1):63-69. Epub 2019 Mar 14.

Division of Genetics and Genomics, Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

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http://dx.doi.org/10.1002/jmd2.12018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498818PMC
March 2019

Biochemical markers and neuropsychological functioning in distal urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):657-667. Epub 2018 Feb 8.

Children's Hospital of Los Angeles, Los Angeles, CA, USA.

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http://dx.doi.org/10.1007/s10545-017-0132-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041144PMC
July 2018

Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female.

JIMD Rep 2018 9;40:17-22. Epub 2017 Sep 9.

Division of Genetics and Genomics, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/8904_2017_55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122020PMC
September 2017

Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation.

Mol Genet Metab Rep 2017 Jun 28;11:54-58. Epub 2017 Apr 28.

Laboratory of Genetics and Metabolic Disease of INTA, Universidad de Chile, Chile.

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http://dx.doi.org/10.1016/j.ymgmr.2017.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5412103PMC
June 2017

Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.

Mol Genet Metab 2017 05 10;121(1):9-15. Epub 2017 Mar 10.

Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Medicine, VA Boston Healthcare System, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.03.003DOI Listing
May 2017

Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia.

JIMD Rep 2017 9;37:115-123. Epub 2017 Apr 9.

Department of Pediatrics, Division of Metabolic Disorders, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2017_22DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740047PMC
April 2017

Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.

J Inherit Metab Dis 2017 03 4;40(2):209-218. Epub 2017 Jan 4.

Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, 1 Autumn Street, Rm 526.1, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s10545-016-0004-4DOI Listing
March 2017

Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis.

JIMD Rep 2017 20;35:87-96. Epub 2016 Dec 20.

Department of Pediatrics, Academic Medical Center, Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1007/8904_2016_28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585100PMC
December 2016

Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium.

J Inherit Metab Dis 2016 07 23;39(4):573-84. Epub 2016 May 23.

Departments of Pediatrics and Neurology, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10545-016-9942-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4921309PMC
July 2016

Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns.

Pediatrics 2016 Jan;137 Suppl 1:S30-5

Harvard Medical School; and Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts.

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http://dx.doi.org/10.1542/peds.2015-3731GDOI Listing
January 2016

Cognitive functioning in mild hyperphenylalaninemia.

Mol Genet Metab Rep 2015 Dec 29;5:72-75. Epub 2015 Oct 29.

Laboratory of Genetics and Metabolic Disease of INTA, University of Chile, Chile.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471391PMC
December 2015

Parents are interested in newborn genomic testing during the early postpartum period.

Genet Med 2015 Jun 4;17(6):501-4. Epub 2014 Dec 4.

1] Harvard Medical School, Boston, Massachusetts, USA [2] Division of Genetics, Brigham and Women's Hospital, Boston, Massachusetts, USA [3] Partners Personalized Medicine, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2014.139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4452417PMC
June 2015

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

Dev Disabil Res Rev 2013 ;17(3):260-8

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

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http://dx.doi.org/10.1002/ddrr.1119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137760PMC
March 2014

Impact of false-positive newborn metabolic screening results on early health care utilization.

Genet Med 2009 Oct;11(10):716-21

Center for Child and Adolescent Health Policy, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181b3a61eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773165PMC
October 2009

Parental tolerance of false-positive newborn screening results.

Arch Pediatr Adolesc Med 2008 Sep;162(9):870-6

Department of Ambulatory Care and Prevention, Harvard Medical School and Harvard Pilgrim Health Care, 133 Brookline Ave, Sixth Floor, Boston, MA 02215, USA.

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http://dx.doi.org/10.1001/archpediatrics.2008.1DOI Listing
September 2008

Expanded newborn screening: information and resources for the family physician.

Authors:
Susan E Waisbren

Am Fam Physician 2008 Apr;77(7):987-94

Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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April 2008

Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis.

Mol Genet Metab 2007 Sep-Oct;92(1-2):63-70. Epub 2007 Jun 25.

Children's Hospital Boston, 1 Autumn Street, Room 525, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.05.006DOI Listing
November 2007

Expanded newborn screening for biochemical disorders: the effect of a false-positive result.

Pediatrics 2006 Jun;117(6):1915-21

Department of Medicine, Children's Hospital Boston, Boston, MA 02115, USA.

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http://dx.doi.org/10.1542/peds.2005-2294DOI Listing
June 2006

Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders.

J Pediatr Psychol 2004 Oct;29(7):565-70

Children's Hospital and Harvard Medical School, Inborn Errors of Metabolism Clinic, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1093/jpepsy/jsh058DOI Listing
October 2004

Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar.

J Child Psychol Psychiatry 2004 Mar;45(3):622-30

Children's Hospital-Boston and Harvard Medical School, USA.

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http://dx.doi.org/10.1111/j.1469-7610.2004.00251.xDOI Listing
March 2004

Expanded screening of newborns for genetic disorders.

JAMA 2004 Feb;291(7):820-1; author reply 821

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http://dx.doi.org/10.1001/jama.291.7.820-cDOI Listing
February 2004

Cognitive and behavioral development in maternal phenylketonuria offspring.

Pediatrics 2003 Dec;112(6 Pt 2):1544-7

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

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December 2003

Pregnancy experiences in the woman with mild hyperphenylalaninemia.

Pediatrics 2003 Dec;112(6 Pt 2):1548-52

Division of Genetics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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December 2003

Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression.

J Abnorm Child Psychol 2003 Dec;31(6):565-74

Children's Hospital-Boston, Division of Psychology, Department of Psychiatry, Harvard Medical School, Longwood Avenue, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1023/a:1026239921561DOI Listing
December 2003

Timing is everything: executive functions in children exposed to elevated levels of phenylalanine.

Neuropsychology 2003 Jul;17(3):458-68

Department of Psychiatry, Children's Hospital--Boston and Harvard Medical School, USA.

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July 2003

Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels.

Am J Orthopsychiatry 2002 Oct;72(4):577-84

Department of Psychiatry, Children's Hospital Boston, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1037/0002-9432.72.4.577DOI Listing
October 2002

Barriers to successful dietary control among pregnant women with phenylketonuria.

Genet Med 2002 Mar-Apr;4(2):84-9

Division of Applied Public Health Training, Epidemiology Program Office, National Center for Environmental Health, Centers for Disease Control and Prevention, Atlanta, Georgia 30341, USA.

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http://dx.doi.org/10.109700125817-200203000-00006DOI Listing
June 2002