Cynthia J Tifft

Cynthia J Tifft

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Cynthia J Tifft

Publications by authors named "Cynthia J Tifft"

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A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.

Genet Med 2019 08 31;21(8):1772-1780. Epub 2019 Jan 31.

Office of the Clinical Director, National Human Genome Research Institute, and Undiagnosed Diseases Program and Network, Office of the Director, National Institutes of Health, Bethesda, MD, USA.

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http://www.nature.com/articles/s41436-019-0434-0
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http://dx.doi.org/10.1038/s41436-019-0434-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6669106PMC
August 2019

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.

Am J Hum Genet 2019 Jun 30;104(6):1127-1138. Epub 2019 May 30.

Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, MD 20892, USA; Common Fund, Office of the Director, NIH, Bethesda, MD 20892, USA; Human Biochemical Genetics Section, 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.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6562152PMC
June 2019

Publisher Correction: Lysosomal storage diseases.

Nat Rev Dis Primers 2019 May 17;5(1):34. Epub 2019 May 17.

Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41572-019-0089-9DOI Listing
May 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

A perilous path: the inborn errors of sphingolipid metabolism.

J Lipid Res 2019 Mar 25;60(3):475-483. Epub 2019 Jan 25.

Genetics of Development and Disease Branch National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892

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http://www.jlr.org/lookup/doi/10.1194/jlr.S091827
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http://dx.doi.org/10.1194/jlr.S091827DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399501PMC
March 2019

Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients.

Mol Genet Metab 2019 02 3;126(2):188-195. Epub 2018 Dec 3.

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

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http://dx.doi.org/10.1016/j.ymgme.2018.12.001DOI Listing
February 2019

Novel variants in SPTAN1 without epilepsy: An expansion of the phenotype.

Am J Med Genet A 2018 12 11;176(12):2768-2776. Epub 2018 Dec 11.

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

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https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.40628
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http://dx.doi.org/10.1002/ajmg.a.40628DOI Listing
December 2018

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

N Engl J Med 2018 11 10;379(22):2131-2139. Epub 2018 Oct 10.

From Harvard Medical School (K.S., C.E., I.S.K., J.L., A.T.M., D.A.S.), Brigham and Women's Hospital (J.L.), and Massachusetts General Hospital (D.A.S.) - all in Boston; the National Institutes of Health Clinical Center (D.R.A., W.A.G., J.J.M., C.J.T.) and the National Human Genome Research Institute (A.L.W.), Bethesda, and the University of Maryland, College Park (A.M.C.-J., B.K., L.P.) - all in Maryland; Baylor College of Medicine, Houston (C.A.B., H.J.B., C.M.E., B.H.L., X.L., M.F.W., S.Y.); Stanford University, Stanford (J.A.B., C.R., M.T.W., E.A.A.), and the University of California, Los Angeles, Los Angeles (S.F.N., C.G.S.P.) - both in California; Vanderbilt University, Nashville (R.H., J.A.P.); HudsonAlpha Institute for Biotechnology, Huntsville, AL (H.J.J., E.A.W.); Oregon Health and Science University, Portland (D.M.K.); the Pacific Northwest National Laboratory, Richland, WA (T.O.M.); the University of Oregon, Eugene (J.H.P., M.W.); and Duke University, Durham, NC (V.S., N.M.W.).

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http://www.nejm.org/doi/10.1056/NEJMoa1714458
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http://dx.doi.org/10.1056/NEJMoa1714458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481166PMC
November 2018

Lysosomal storage diseases.

Nat Rev Dis Primers 2018 10 1;4(1):27. Epub 2018 Oct 1.

Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41572-018-0025-4DOI Listing
October 2018

Author Correction: Lysosomal storage diseases.

Nat Rev Dis Primers 2018 Oct 18;4(1):36. Epub 2018 Oct 18.

Office of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

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http://www.nature.com/articles/s41572-018-0037-0
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http://dx.doi.org/10.1038/s41572-018-0037-0DOI Listing
October 2018

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation.

J Lipid Res 2018 03 22;59(3):550-563. Epub 2018 Jan 22.

Genetics of Development and Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892

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http://dx.doi.org/10.1194/jlr.M081323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832932PMC
March 2018

Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.

Mol Ther 2017 04 22;25(4):892-903. Epub 2017 Feb 22.

Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA; Department of Anatomy, Physiology and Pharmacology, College of Veterinary Medicine, Auburn University, Auburn, AL 36849, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymthe.2017.01.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5383552PMC
April 2017

Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.

Genet Med 2016 12 2;18(12):1303-1307. Epub 2016 Jun 2.

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

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http://dx.doi.org/10.1038/gim.2016.47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133159PMC
December 2016

The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.

Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:663-73

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June 2016

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.

Mol Genet Metab 2016 Apr 22;117(4):393-400. Epub 2016 Jan 22.

NIH Undiagnosed Diseases Network, Common Fund, Office of the Director and the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560125PMC
April 2016

MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.

Am J Med Genet A 2016 Mar 8;170(3):634-44. Epub 2015 Dec 8.

Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37468DOI Listing
March 2016

Concurrent diagnoses of Prader-Willi syndrome and GM2 gangliosidosis caused by uniparental disomy of chromosome 15.

Am J Med Genet A 2015 Aug 21;167A(8):1944-8. Epub 2015 Apr 21.

Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC.

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http://dx.doi.org/10.1002/ajmg.a.37090DOI Listing
August 2015

Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells.

Blood Cells Mol Dis 2015 Aug 27;55(2):161-7. Epub 2015 May 27.

Division of Hematology, Department of Oncology, Albert Einstein College of Medicine and Montefiore Medical Center, 1300 Morris Park Blvd., Bronx, NY 10461, United States. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2015.05.006DOI Listing
August 2015

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

The National Institutes of Health undiagnosed diseases program.

Curr Opin Pediatr 2014 Dec;26(6):626-33

aNIH Undiagnosed Diseases Program, Office of the Director, NIH Common Fund bOffice of the Clinical Director and Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/MOP.0000000000000155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302336PMC
December 2014

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

mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Ann Clin Transl Neurol 2014 Mar;1(3):190-198

NIH Undiagnosed Diseases Program, NIH Office of Rare Diseases Research and NHGRI, Bethesda, MD, USA ; Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1002/acn3.39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4019449PMC
March 2014

Natural history of infantile G(M2) gangliosidosis.

Pediatrics 2011 Nov 24;128(5):e1233-41. Epub 2011 Oct 24.

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

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http://dx.doi.org/10.1542/peds.2011-0078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208966PMC
November 2011

The NIH Undiagnosed Diseases Program: lessons learned.

JAMA 2011 May;305(18):1904-5

NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1001/jama.2011.613DOI Listing
May 2011

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.

Mol Genet Metab 2009 Aug 3;97(4):284-91. Epub 2009 May 3.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ont., Canada.

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http://dx.doi.org/10.1016/j.ymgme.2009.04.013DOI Listing
August 2009

Dysmorphic findings in two cases of abeta/hypobetalipoproteinemia.

Clin Dysmorphol 2009 Apr;18(2):90-1

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

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http://dx.doi.org/10.1097/MCD.0b013e3283279a0fDOI Listing
April 2009

Simultaneous quantification of GM1 and GM2 gangliosides by isotope dilution tandem mass spectrometry.

Clin Biochem 2008 Apr 17;41(6):413-7. Epub 2008 Jan 17.

Department of Laboratory Medicine, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2007.12.026DOI Listing
April 2008

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Nat Genet 2007 Mar 4;39(3):359-65. Epub 2007 Feb 4.

Bone and Extracellular Matrix Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1038/ng1968DOI Listing
March 2007

Quantitative dysmorphology assessment in Fabry disease.

Genet Med 2006 Feb;8(2):96-101

Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-1260, USA.

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http://dx.doi.org/10.109701.gim.0000200950.25118.ddDOI Listing
February 2006

Global gene expression in a type 2 Gaucher disease brain.

Mol Genet Metab 2004 Dec;83(4):288-96

Department of Biology, St. Mary's College of Maryland, St. Mary's City, MD 20686, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.06.020DOI Listing
December 2004

Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?

Am J Med Genet 2002 Jul;110(4):308-14

Medical Genetics Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

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http://dx.doi.org/10.1002/ajmg.10484DOI Listing
July 2002

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.

Hum Mol Genet 2002 May;11(11):1343-50

Department of Biology, St Mary's College of Maryland, St Mary's City, MD 20686, USA.

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http://dx.doi.org/10.1093/hmg/11.11.1343DOI Listing
May 2002