Lynne Wolfe

Lynne Wolfe

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Lynne Wolfe

Lynne Wolfe

Publications by authors named "Lynne Wolfe"

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SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 Jul 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Glycomics in rare diseases: from diagnosis tomechanism.

Transl Res 2019 04 23;206:5-17. Epub 2018 Oct 23.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland; Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S19315244183018
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http://dx.doi.org/10.1016/j.trsl.2018.10.005DOI Listing
April 2019

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.

Mol Genet Metab 2018 05 10;124(1):82-86. Epub 2018 Mar 10.

Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology Mayo Clinic College of Medicine, Rochester, MN, USA.

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http://dx.doi.org/10.1016/j.ymgme.2018.03.002DOI Listing
May 2018

Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry.

J Allergy Clin Immunol 2017 07 4;140(1):291-294.e4. Epub 2017 Jan 4.

Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.12.951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496781PMC
July 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B.

J Pediatr 2016 12 15;179:144-149.e2. Epub 2016 Sep 15.

Division of Gastroenterology, Department of Pediatrics, Feinberg School of Medicine of Northwestern University and Ann and Robert H Lurie Children's Hospital of Chicago, Chicago, IL.

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http://dx.doi.org/10.1016/j.jpeds.2016.08.043DOI Listing
December 2016

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Brain 2016 09 24;139(Pt 9):e52. Epub 2016 Jun 24.

1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1093/brain/aww135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841196PMC
September 2016

Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.

J Med Genet 2016 Mar 14;53(3):180-9. Epub 2015 Dec 14.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, Maryland, USA Office of the Clinical Director, NHGRI, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103338DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535303PMC
March 2016

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.

Hum Mol Genet 2015 Jun 12;24(11):3050-7. Epub 2015 Feb 12.

Human Genetics Program, Sanford - Burnham Medical Research Institute, 10901 N. Torrey Pines Rd, La Jolla, CA 92037, USA

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http://dx.doi.org/10.1093/hmg/ddv057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424951PMC
June 2015

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.

Am J Med Genet A 2014 Nov 22;164A(11):2892-900. Epub 2014 Sep 22.

NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/ajmg.a.36709
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http://dx.doi.org/10.1002/ajmg.a.36709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205164PMC
November 2014

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

Genet Med 2014 Oct 1;16(10):741-50. Epub 2014 May 1.

National Institutes of Health (NIH) Undiagnosed Diseases Program, Common Fund, NIH Office of the Director and National Human Genome Research Institute, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2014.29DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190001PMC
October 2014

Glycosylation, hypogammaglobulinemia, and resistance to viral infections.

N Engl J Med 2014 Apr 9;370(17):1615-1625. Epub 2014 Apr 9.

Infectious Diseases Susceptibility Unit, Laboratory of Host Defenses (M.A.S., N.H., E.N., R.M., M.G., S.D.R.), Laboratory of Immunoregulation (S.M., T.-W.C., P.L., L.J.Y.K., A.L., R.C., J.S.J., D.M.), Laboratory of Infectious Diseases (M.J.M., T.B.), Laboratory of Clinical Infectious Diseases (B.E.M.), Laboratory of Immunogenetics (G.H., D.S., P.S.), and Primary Immunodeficiency Clinic (S.D.R.), National Institute of Allergy and Infectious Diseases, the Undiagnosed Diseases Program, National Human Research Genome Institute (L.W., H.V., Y.H. D.A., C.F.B.), the Department of Laboratory Medicine, Clinical Center (K.R.C., J.S.), and Oral and Pharyngeal Cancer Branch (V.P.) and Adeno-Associated Virus Biology Section (J.A.C., G.D.P.), National Institute of Dental and Craniofacial Research - all at the National Institutes of Health, Bethesda, the Center for Biologics Evaluation and Research (G.K., J.J.) and the Center for Drug Evaluation and Research (D.C.I., C.G., D.V.), Food and Drug Administration Clinical Services Program, Silver Spring, and SAIC-Frederick, Frederick National Laboratory for Cancer Research, Frederick (D.A.L.P., D.B.K.) - all in Maryland; the Department of Human Genetics, Emory University School of Medicine, Atlanta (M. He, M. Hegde); and the IAVI (International AIDS Vaccine Initiative) Center for Neutralizing Antibodies at TSRI and the Department of Immunology and Microbial Science, Scripps Research Institute, La Jolla, CA (Y.L.).

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http://dx.doi.org/10.1056/NEJMoa1302846DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066413PMC
April 2014

Congenital disorders of glycosylation and intellectual disability.

Dev Disabil Res Rev 2013 ;17(3):211-25

Genetic Nurse Practitioner, Undiagnosed Diseases Program, National Human Genome Research Institute, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/ddrr.1115DOI Listing
March 2014

Two novel compound heterozygous mutations in in two siblings with OPA3-related 3-methylglutaconic aciduria.

Mol Genet Metab Rep 2014 Jan;1:114-123

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.02.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3987911PMC
January 2014

A $50 million question.

Authors:
Lynne Wolfe

Hosp Health Netw 2013 Sep;87(9):18

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September 2013

The elusive magic pill: finding effective therapies for mitochondrial disorders.

Neurotherapeutics 2013 Apr;10(2):320-8

Division of Child Neurology, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, PA 20892, USA.

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http://dx.doi.org/10.1007/s13311-012-0175-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625379PMC
April 2013

Kearns-Sayre syndrome presenting as isolated growth failure.

BMJ Case Rep 2013 Feb 18;2013. Epub 2013 Feb 18.

Undiagnosed Diseases Program, Office of the Director and NHGRI, NIH, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2012-007272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3604337PMC
February 2013

Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.

Am J Med Genet C Semin Med Genet 2012 Nov 11;160C(4):322-8. Epub 2012 Oct 11.

Undiagnosed Diseases Program, National Institutes of Health, 10 Center DR, MSC 1205, RM# 3-2551, Bethesda, MD 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.c.31345
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http://dx.doi.org/10.1002/ajmg.c.31345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3995744PMC
November 2012

LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining.

J Hum Genet 2011 Jul 19;56(7):516-23. Epub 2011 May 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/jhg.2011.51DOI Listing
July 2011

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.

J Inherit Metab Dis 2010 Dec 19;33 Suppl 3:S481-7. Epub 2010 Nov 19.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of UPMC, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1007/s10545-010-9246-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3970109PMC
December 2010

Grown-ups, quit wallowing.

Authors:
Lynne Wolfe

Hosp Health Netw 2010 Jul;84(7)

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July 2010

Potential misdiagnosis of 3-methylcrotonyl-coenzyme A carboxylase deficiency associated with absent or trace urinary 3-methylcrotonylglycine.

Pediatrics 2007 Nov 1;120(5):e1335-40. Epub 2007 Oct 1.

Division of Medical Genetics, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1542/peds.2007-0674DOI Listing
November 2007