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Publications by Richard J. H. Smith
Comprehensive Genetic Analysis of Complement and Coagulation Genes in Atypical Hemolytic Uremic Syndrome
Journal of the American Society of Nephrology : JASN
Medicine
Nephrology
Statistical Validation of Rare Complement Variants Provides Insights Into the Molecular Basis of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy
Journal of Immunology
Allergy
Immunology
Factor B and C4b2a Autoantibodies in C3 Glomerulopathy
Frontiers in Immunology
Allergy
Immunology
A Recurrent Missense Variant in HARS2 Results in Variable Sensorineural Hearing Loss in Three Unrelated Families
Journal of Human Genetics
Genetics
Screening of Deafness-Causing DNA Variants That Are Common in Patients of European Ancestry Using a Microarray-Based Approach
PLoS ONE
Multidisciplinary
Novel PTPRQ Mutations Identified in Three Congenital Hearing Loss Patients With Various Types of Hearing Loss
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
Hearing Loss Caused by a P2RX2 Mutation Identified in a MELAS Family With a Coexisting Mitochondrial 3243AG Mutation
Annals of Otology, Rhinology and Laryngology
Medicine
Otorhinolaryngology
Mutations in the First MyTH4 Domain ofMYO15Aare a Common Cause of DFNB3 Hearing Loss
Laryngoscope
Otorhinolaryngology
Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping
Archives of Otolaryngology–Head & Neck Surgery
MYO1F as a Candidate Gene for Nonsyndromic Deafness, DFNB15
Archives of Otolaryngology–Head & Neck Surgery
