Skip to Main Content

Author Details

Yan Huang
National Institute of Allergy and Infectious Diseases
2007
18
15
PMIDPaper TitleJournal TitlePublished Year
32252809Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies.Arthritis Res Ther2020
31874111Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.J Clin Invest2020
31155284Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.Am J Hum Genet2019
29134648Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients.Clin Pharmacol Ther2018
29691655Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.Hum Genet2018
29120065Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism.Clin Genet2018
28603714Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Front Med (Lausanne)2017
26805780Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.Am J Hum Genet2016
25845469MED23-associated intellectual disability in a non-consanguineous family.Am J Med Genet A2015
24716661Glycosylation, hypogammaglobulinemia, and resistance to viral infections.N Engl J Med2014
25251875ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination.Am J Med Genet A2014
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
232931221,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.Clin J Am Soc Nephrol2013
22378147Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression.Hum Mol Genet2012
22311686An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.Hum Mutat2012
21765412NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules.Nat Genet2011
18805831Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation.J Med Genet2009
17089404Schimke immunoosseous dysplasia: suggestions of genetic diversity.Hum Mutat2007
  • 1 - 18 of 18

Recommended Authors

Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Career Start Year 2014
Number of shared co-authors 1
Baylor College of Medicine
Career Start Year 2012
Number of shared co-authors 7
Brotman Baty Institute for Precision Medicine, University of Washington
Career Start Year 2011
Number of shared co-authors 6
Children's Hospital of Eastern Ontario Research Institute
Career Start Year 2009
Number of shared co-authors 8
Radboud University Medical Center
Career Start Year 2009
Number of shared co-authors 6
Baylor College of Medicine
Career Start Year 2008
Number of shared co-authors 5
Baylor College of Medicine
Career Start Year 2007
Number of shared co-authors 4
University of Exeter Medical School, Royal Devon & Exeter Hospital
Career Start Year 2007
Number of shared co-authors 6
Guy's Hospital
Career Start Year 2006
Number of shared co-authors 7
Johns Hopkins University
Career Start Year 2006
Number of shared co-authors 3
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 2
Acibadem Mehmet Ali Aydinlar University
Career Start Year 2005
Number of shared co-authors 1
Baylor College of Medicine
Career Start Year 2005
Number of shared co-authors 10
University of Washington
Career Start Year 2005
Number of shared co-authors 3
Baylor College of Medicine
Career Start Year 2004
Number of shared co-authors 9
King's College London
Career Start Year 2002
Number of shared co-authors 2
King Faisal Specialist Hospital and Research Center
Career Start Year 2001
Number of shared co-authors 8
Duke University Medical Center
Career Start Year 2001
Number of shared co-authors 0
Stanford University
Career Start Year 2000
Number of shared co-authors 8
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 6
Oregon Health & Sciences University
Career Start Year 1998
Number of shared co-authors 1
Center for Integrative Brain Research, Seattle Children's Research Institute
Career Start Year 1998
Number of shared co-authors 0
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 1
Center for Precision Health Research, National Human Genome Research Institute
Career Start Year 1997
Number of shared co-authors 5
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 12
University of Washington
Career Start Year 1996
Number of shared co-authors 3
Broad Institute of MIT and Harvard
Career Start Year 1995
Number of shared co-authors 5
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1987
Number of shared co-authors 14
University of Manchester
Career Start Year 1986
Number of shared co-authors 6
NYS Institute for Basic Research in Developmental Disabilities .
Career Start Year 1972
Number of shared co-authors 5

Collaborators

University of British Columbia
Co-authored papers 12
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 11
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 8
National Institutes of Health Undiagnosed Diseases Program
Co-authored papers 6
National Human Genome Research Institute
Co-authored papers 6
National Institutes of Health
Co-authored papers 5
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 5
Boston University School of Public Health
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 4
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 3
Maryland Inova Translational Medicine Institute, Inova Health System
Co-authored papers 3
Children's Hospital of Philadelphia
Co-authored papers 3
University of Pretoria
Co-authored papers 3
National Institute of Arthritis
Co-authored papers 2
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Co-authored papers 2
and National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 2
University of California San Francisco
Co-authored papers 2
NIH and National Human Genome Research Institute
Co-authored papers 2
University of Pennsylvania - Perelman School of Medicine
Co-authored papers 2
National Institutes of Health
Co-authored papers 1
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
University of Miami Miller School of Medicine
Co-authored papers 1
National Institutes of Health
Co-authored papers 1
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Co-authored papers 1
Co-authored papers 1
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 1
University of British Columbia
Co-authored papers 1
Co-authored papers 1