K. Frees

发表

TLR4 mutations are associated with endotoxin hyporesponsiveness in humans

D. Schwartz, Michael P. Jones, J. Kline, 2000, Nature Genetics.

Genes other than TLR4 are involved in the response to inhaled LPS.

D. Schwartz, C. Wohlford-Lenane, E. Lorenz, 2001, American journal of physiology. Lung cellular and molecular physiology.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

T. Casavant, D. Kolbe, T. Braun, 2020, Human Genetics.

Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness

S. Riazuddin, Z. Ahmed, M. Shahzad, 2020, bioRxiv.

Endotoxin responsiveness and grain dust-induced inflammation in the lower respiratory tract.

P S Thorne, D. Schwartz, P. Thorne, 1994, The American journal of physiology.

Compartmentalization of the inflammatory response to inhaled grain dust.

D. Schwartz, H. Koren, S. Becker, 1999, American journal of respiratory and critical care medicine.

The effect of of glucocorticoids on grain dust-induced airway disease.

D. Schwartz, M. Nonnenmann, K. Frees, 1998, Chest.

Grain dust and endotoxin inhalation challenges produce similar inflammatory responses in normal subjects.

D. Schwartz, P. Thorne, K. Frees, 1996, Chest.

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Amy E. Weaver, K. Frees, C. Nishimura, 2010, Human mutation.

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

D. Kolbe, M. Farhadi, M. Azizi, 2016, Archives of Iranian medicine.

Grain dust-induced airflow obstruction and inflammation of the lower respiratory tract.

D. Schwartz, H. Koren, P. Thorne, 1994, American journal of respiratory and critical care medicine.

Determination of the TLR4 genotype using allele-specific PCR.

D. Schwartz, E. Lorenz, K. Frees, 2001, BioTechniques.

The effects of inhalation of grain dust extract and endotoxin on upper and lower airways.

D. Schwartz, P. Thorne, K. Frees, 1993, Chest.

Determinants of survival in idiopathic pulmonary fibrosis.

D. Schwartz, G. Hunninghake, J. Galvin, 1994, American journal of respiratory and critical care medicine.

Relevance of mutations in the TLR4 receptor in patients with gram-negative septic shock.

D. Schwartz, J. Mira, E. Lorenz, 2002, Archives of internal medicine.

De novo variants are a common cause of genetic hearing loss.

D. Kolbe, K. Frees, C. Nishimura, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Amy E. Weaver, D. Kolbe, K. Frees, 2016, Human Genetics.

Exonic mutations and exon skipping: Lessons learned from DFNA5

K. Kahrizi, H. Najmabadi, K. Frees, 2018, Human mutation.

Allelic Variants of Complement Genes Associated with Dense Deposit Disease

L. Katz, K. Frees, C. Nishimura, 2011, Journal of the American Society of Nephrology : JASN.

Copy number variants are a common cause of non-syndromic hearing loss

Christina M. Sloan, Amy E. Weaver, D. Kolbe, 2014, Genome Medicine.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Allen C. Simpson, M. Farhadi, K. Kahrizi, 2015, Journal of Medical Genetics.

A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations

T. Casavant, D. Kolbe, T. Braun, 2020, Human Genetics.

Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss

S. Riazuddin, Z. Ahmed, M. Shahzad, 2020, Human Genetics.

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

H. Rehm, D. Kolbe, C. Morton, 2021, European Journal of Human Genetics.

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

D. Kolbe, M. Schnieders, Yingyue Li, 2016, Journal of the American Society of Nephrology : JASN.

Clinical relevance of cellular mediators of inflammation in workers exposed to asbestos.

D. Schwartz, G. Hunninghake, J. Galvin, 1993, The American review of respiratory disease.

The genetics of the alternative pathway of complement in the pathogenesis of HELLP syndrome

G. Ardissino, L. Fedele, F. Crovetto, 2012, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Genetic Analysis of 400 Patients Refines Understanding and Implicates a New Gene in Atypical Hemolytic Uremic Syndrome.

K. Frees, Richard J. H. Smith, N. Meyer, 2018, Journal of the American Society of Nephrology : JASN.

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance

Carolyn J. Brown, M. Hansen, P. Abbas, 2017, Hearing Research.

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss

Amy E. Weaver, D. Kolbe, J. Kamholz, 2020, Ophthalmic genetics.

Exclusion of Ifa and Ifb as the Lps gene and mapping of three markers near the Lps locus

J. Murray, B. Schutte, K. Frees, 1997, Mammalian Genome.

Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots

D. Kolbe, K. Frees, Richard J. H. Smith, 2018, Otolaryngology Head & Neck Surgery.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran

Allen C. Simpson, M. Farhadi, K. Kahrizi, 2015, Journal of Medical Genetics.

Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome

Amy E. Weaver, K. Frees, C. Nishimura, 2010, Human mutation.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss

Diana L. Kolbe, Hela Azaiez, Sean S. Ephraim, 2016, Human Genetics.