Search details
1.
A Novel Point-of-Care Rapid Diagnostic Test for Screening Individuals for Antibody Deficiencies.
J Clin Immunol
; 42(2): 394-403, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34839430
2.
Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
J Am Soc Nephrol
; 32(9): 2273-2290, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34400539
3.
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Pediatr Nephrol
; 34(7): 1175-1189, 2019 07.
Article
in English
| MEDLINE | ID: mdl-29987460
4.
Evidence of digenic inheritance in Alport syndrome.
J Med Genet
; 52(3): 163-74, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25575550
5.
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Pediatr Nephrol
; 30(9): 1459-65, 2015 Sep.
Article
in English
| MEDLINE | ID: mdl-25739341
6.
Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.
Pediatr Nephrol
; 29(3): 391-6, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24178893
7.
A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.
Pediatr Nephrol
; 29(3): 481-5, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24337245
8.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
Pediatr Nephrol
; 29(6): 971-7, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-23720012
9.
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
J Am Soc Nephrol
; 24(12): 1945-54, 2013 Dec.
Article
in English
| MEDLINE | ID: mdl-24052634
10.
From biorepositories to data repositories: Open-access resources accelerate early R&D and validation of equitable diagnostic tools.
PLOS Glob Public Health
; 3(8): e0002044, 2023.
Article
in English
| MEDLINE | ID: mdl-37582061
11.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Sci Rep
; 12(1): 2722, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-35177655
12.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Clin J Am Soc Nephrol
; 17(1): 143-154, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34930753
13.
Sensitive and semiquantitative detection of soil-transmitted helminth infection in stool using a recombinase polymerase amplification-based assay.
PLoS Negl Trop Dis
; 15(9): e0009782, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34516554
14.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 29(8): 1186-1197, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33854215
15.
Formative research to inform development of a new diagnostic for soil-transmitted helminths: Going beyond the laboratory to ensure access to a needed product.
PLoS Negl Trop Dis
; 13(5): e0007372, 2019 05.
Article
in English
| MEDLINE | ID: mdl-31150389
16.
Mapping of lymphatic filariasis in loiasis areas: A new strategy shows no evidence for Wuchereria bancrofti endemicity in Cameroon.
PLoS Negl Trop Dis
; 13(3): e0007192, 2019 03.
Article
in English
| MEDLINE | ID: mdl-30849120
17.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 32(1): 132, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-36721056
18.
Diagnostic accuracy of self-administered urine glucose test strips as a diabetes screening tool in a low-resource setting in Cambodia.
BMJ Open
; 8(3): e019924, 2018 03 22.
Article
in English
| MEDLINE | ID: mdl-29567849
19.
Soil transmitted helminth infections are not associated with compromised antibody responses to previously administered measles and tetanus vaccines among HIV-1 infected, ART naïve Kenyan adults.
Parasite Epidemiol Control
; 2(1): 13-20, 2017 Feb.
Article
in English
| MEDLINE | ID: mdl-28924616
20.
Feasibility of utilizing the SD BIOLINE Onchocerciasis IgG4 rapid test in onchocerciasis surveillance in Senegal.
PLoS Negl Trop Dis
; 11(10): e0005884, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28972982