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Author Details

Gretchen Golas
National Human Genome Research Institute, National Institutes of Health
1986
33
22
PMIDPaper TitleJournal TitlePublished Year
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
28193763Neurologic involvement in patients with atypical Chediak-Higashi disease.Neurology2017
28344780Abnormal glycosylation in Joubert syndrome type 10.Cilia2017
28236574Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.Mol Ther2017
28675565Compound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.Hum Mutat2017
26944273Neurologic involvement in patients with atypical Chediak-Higashi disease.Neurology2016
26562225Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.Genet Med2016
26646981MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.Am J Med Genet A2016
26373698The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations.Am J Med Genet A2016
26795631A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.Eur J Pediatr2016
25817015Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.Am J Hum Genet2015
25845469MED23-associated intellectual disability in a non-consanguineous family.Am J Med Genet A2015
25943031Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.Mol Genet Metab2015
24006476Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.Hum Mol Genet2014
24784157The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.Genet Med2014
24839611<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.Ann Clin Transl Neurol2014
24863970Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.Mol Genet Metab2014
24504326Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.Nat Commun2014
232931221,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.Clin J Am Soc Nephrol2013
22146942Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.Eur J Hum Genet2012
22709368A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.Pigment Cell Melanoma Res2012
22675082Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis.Neurology2012
22237431The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.Genet Med2012
22009278Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.Mol Med2012
20662851Novel mutations in the HPS1 gene among Puerto Rican patients.Clin Genet2011
22022284Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.PLoS Genet2011
21833017Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.J Invest Dermatol2011
21793738A mosaic activating mutation in AKT1 associated with the Proteus syndrome.N Engl J Med2011
21353777Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man.Neuromuscul Disord2011
20503323Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.Am J Med Genet A2010
19398212Hermansky-Pudlak syndrome type 1 in patients of Indian descent.Mol Genet Metab2009
19843503Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.J Med Genet2009
3639536Effect of early postpartum teaching on primiparas' knowledge of infant behavior and degree of confidence.Res Nurs Health1986
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Collaborators

National Human Genome Research Institute, National Institutes of Health
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Co-authored papers 19
National Human Genome Research Institute
Co-authored papers 16
National Institutes of Health
Co-authored papers 15
University of British Columbia
Co-authored papers 13
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Co-authored papers 10
Boston University School of Public Health
Co-authored papers 7
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 6
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 6
National Institutes of Health Intramural Research Program
Co-authored papers 6
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Co-authored papers 6
National Human Genome Research Institute, National Institutes of Health (NIH)
Co-authored papers 4
National Institute of Allergy and Infectious Diseases
Co-authored papers 4
Maryland Inova Translational Medicine Institute, Inova Health System
Co-authored papers 4
University of California San Francisco
Co-authored papers 4
Salish Kootenai College
Co-authored papers 4
National Institutes of Health
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
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Co-authored papers 3
Sanford School of Medicine, University of South Dakota
Co-authored papers 3
H. Lee Moffitt Cancer Center and Research Institute
Co-authored papers 3
University of Pretoria
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University of Pennsylvania - Perelman School of Medicine
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National Institutes of Health
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NIH and National Human Genome Research Institute
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William Harvey Research Institute, Queen Mary University of London
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Royal Children's Hospital
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American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
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