Richard J.H. Smith mainly focuses on Genetics, Hearing loss, Genetic testing, Gene and Surgery. His is doing research in Mutation, Locus, Missense mutation, Allele and Usher syndrome, both of which are found in Genetics. His Sensorineural hearing loss and Congenital hearing loss study in the realm of Hearing loss interacts with subjects such as GJB6.
His Genetic testing research is multidisciplinary, incorporating elements of Bioinformatics, Medical genetics, Genomics, Exome and Massive parallel sequencing. Richard J.H. Smith has researched Gene in several fields, including Consanguinity and Molecular biology. His Audiology research is multidisciplinary, incorporating perspectives in Genetic counseling and Pediatrics.
His primary areas of investigation include Genetics, Hearing loss, Surgery, Gene and Audiology. His study in Locus, Genetic linkage, Allele, Missense mutation and Mutation are all subfields of Genetics. His Hearing loss study incorporates themes from Phenotype, Genetic counseling and Genetic testing.
His work in Genetic testing is not limited to one particular discipline; it also encompasses Massive parallel sequencing.
His main research concerns Hearing loss, Genetics, Genetic testing, MEDLINE and Glomerulopathy. His Hearing loss study combines topics in areas such as Exome sequencing and Missense mutation. His study in Gene, RNA splicing and Exon is carried out as part of his Genetics studies.
He interconnects Massive parallel sequencing, Bioinformatics and MYO15A in the investigation of issues within Genetic testing. His Glomerulopathy research integrates issues from Alternative complement pathway, Atypical hemolytic uremic syndrome, Disease and Immunology. Richard J.H. Smith is interested in Complement system, which is a branch of Immunology.
The scientist’s investigation covers issues in Hearing loss, Genetic testing, Genetics, Audiology and Complement system. His Hearing loss study combines topics from a wide range of disciplines, such as Hair cell, Inner ear, Cochlea and Locus. The study incorporates disciplines such as Bioinformatics, Hearing screening, Intensive care medicine, Massive parallel sequencing and MYO15A in addition to Genetic testing.
His works in Gene, Missense mutation, CFHR5, Human genetics and Minor allele frequency are all subjects of inquiry into Genetics. His study on Sensorineural hearing loss and Congenital hearing loss is often connected to Habilitation as part of broader study in Audiology. His Immunology study also includes fields such as
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A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
Gregory S. Hageman;Don H. Anderson;Lincoln V. Johnson;Lisa S. Hancox.
Proceedings of the National Academy of Sciences of the United States of America (2005)
Body mass in comparative primatology
Richard J. Smith;William L. Jungers.
Journal of Human Evolution (1997)
Integrative analysis of the Caenorhabditis elegans genome by the modENCODE project
Mark B. Gerstein;Zhi John Lu;Eric L. Van Nostrand;Chao Cheng.
Sensorineural hearing loss in children
Richard J H Smith;James F Bale;Karl R White.
The Lancet (2005)
CLASP - A RANDOMIZED TRIAL OF LOW-DOSE ASPIRIN FOR THE PREVENTION AND TREATMENT OF PREECLAMPSIA AMONG 9364 PREGNANT-WOMEN
G Beroyz;R Casale;A Farreiros;M Palermo.
The Lancet (1994)
Congenital Cytomegalovirus Infection
Sergio Stagno;David W. Reynolds;Eng-Shang Huang;Shirley D. Thames.
The New England Journal of Medicine (1977)
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Nele Hilgert;Richard J.H. Smith;Guy Van Camp.
Mutation Research (2009)
Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23
Julie M. Bork;Linda M. Peters;Saima Riazuddin;Saima Riazuddin;Steve L. Bernstein.
American Journal of Human Genetics (2001)
GJB2 mutations and degree of hearing loss: a multicenter study.
Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin.
American Journal of Human Genetics (2005)
C3 glomerulopathy: consensus report
Matthew C. Pickering;Vivette D. D'agati;Carla M. Nester;Richard J. Smith.
Kidney International (2013)
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