M. Huie

发表

Immunomodulation with Recombinant Interferon-γ1b in Pulmonary Tuberculosis

E. Bateman, W. Rom, C. Tseng, 2009, PloS one.

Chemokine IP-10: an adjunct marker for latent tuberculosis infection in children.

H. Pollack, J. Lighter, M. Rigaud, 2009, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

Model of DNA-PKcs Deficiency SCID in Jack Russell Terriers: A New Animal

M. Dark, W. Wang, P. Venta, 2001 .

SCID in Jack Russell Terriers: A New Animal Model of DNA-PKcs Deficiency1

M. Dark, W. Wang, P. Venta, 2001, The Journal of Immunology.

Increased Production of IL-4 and IL-12p40 from Bronchoalveolar Lavage Cells Are Biomarkers of Mycobacterium tuberculosis in the Sputum

E. Bateman, W. Rom, R. Dawson, 2013, PloS one.

A large Alu-mediated deletion, identified by PCR, as the molecular basis for glycogen storage disease Type II (GSDII)

A. Shanske, R. Hirschhorn, J. Kasper, 1999, Human Genetics.

Elevated IP-10 and IL-6 from bronchoalveolar lavage cells are biomarkers of non-cavitary tuberculosis.

E. Bateman, W. Rom, R. Dawson, 2013, The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease.

The effects of interferon on murine erythropoiesis.

A. S. Gordon, B. Naughton, R. Preti, 1985, Life sciences.

Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.

K. Anyane-Yeboa, E. Guzmán, R. Hirschhorn, 2002, American journal of human genetics.

Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.

B. Byrne, N. Raben, P. Kessler, 2001, Human gene therapy.

Murine Acid α-Glucosidase: Cell-Specific mRNA Differential Expression during Development and Maturation

D. Witte, G. Grabowski, R. Hirschhorn, 1999 .

Frequency of mutations for glycogen storage disease type II in different populations: the Δ525T and Δexon 18 mutations are not generally “common” in white populations

R. Hirschhorn, M. Huie, 1999, Journal of medical genetics.

Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.

S. Dimauro, S. Tsujino, R. Hirschhorn, 1994, Human molecular genetics.

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

C. Tifft, N. Raben, A. Reuser, 1998, American journal of human genetics.

Temporal relation between a hepatic erythropoietic factor and the site of rat erythropoietin production.

A. S. Gordon, B. S. Dornfest, B. Naughton, 1986, Annals of clinical and laboratory science.

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).

S. Brooks, R. Hirschhorn, A. Grix, 1994, Human molecular genetics.

Computer assisted cloning of human neutral α-glucosidase C (GANC): A new paralog in the glycosyl hydrolase gene family 31

R. Hirschhorn, J. Kasper, M. Huie, 2002, Proceedings of the National Academy of Sciences of the United States of America.

Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency

J. Puck, R. Hirschhorn, D. Yang, 1996, Nature Genetics.

Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.

S. Dimauro, Y. Goto, S. Tsujino, 1998, Biochemical and biophysical research communications.

Somatic mosaicism for a newly identified splice-site mutation in a patient with adenosine deaminase-deficient immunodeficiency and spontaneous clinical recovery.

D. Ownby, R. Hirschhorn, D. Yang, 1994, American journal of human genetics.

Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

R. Hirschhorn, M. Huie, D. R. Yang, 1994, Clinical Immunology and Immunopathology.

Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050–54) unusual for not being missense mutations

R. Hirschhorn, M. Huie, A. Chen, 1993, Human mutation.

Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.

P. Arn, C. Greenberg, R. Hirschhorn, 1999, American journal of medical genetics.

Localization and ordering of acid alpha-glucosidase (GAA) and thymidine kinase (TK1) by fluorescence in situ hybridization

W. Kuo, K. Hirschhorn, R. Hirschhorn, 1996, Human Genetics.

Blood Eosinophils and World Trade Center Exposure Predict Surgery in Chronic Rhinosinusitis. A 13.5-Year Longitudinal Study.

M. Webber, H. Cohen, R. Zeig-Owens, 2016, Annals of the American Thoracic Society.

Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease)

F. Martiniuk, R. Hirschhorn, N. Zhong, 1994, Human mutation.

Frequent mutations in Japanese patients with acid maltase deficiency

I. Nonaka, S. Tsujino, H. Sugie, 2000, Neuromuscular Disorders.

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

M. Roig, K. Anyane-Yeboa, R. Hirschhorn, 2002, Neuromuscular Disorders.

Melamine and cyanuric acid exposure and kidney injury in US children

D. Christakis, L. Trasande, J. Flynn, 2019, Environmental research.

Type A Niemann‐Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients

R. Desnick, O. Levran, E. Schuchman, 1993, Human mutation.

Identification of an E689K substitution as the molecular basis of the human acid α‐glucosidase type 4 allozyme (GAA*4)

M. Menaker, R. Hirschhorn, P. McAlpine, 1996, Annals of human genetics.