Search details
1.
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Hum Genomics
; 18(1): 44, 2024 Apr 29.
Article
in English
| MEDLINE | ID: mdl-38685113
2.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33743207
3.
Applications of artificial intelligence in clinical laboratory genomics.
Am J Med Genet C Semin Med Genet
; 193(3): e32057, 2023 Sep.
Article
in English
| MEDLINE | ID: mdl-37507620
4.
Deletions in DNAL1 Cause Primary Ciliary Dyskinesia Across North American Indigenous Populations.
J Pediatr
; 261: 113362, 2023 10.
Article
in English
| MEDLINE | ID: mdl-36841509
5.
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Cancer
; 128(4): 675-684, 2022 02 15.
Article
in English
| MEDLINE | ID: mdl-34724198
6.
Prioritizing genes for systematic variant effect mapping.
Bioinformatics
; 36(22-23): 5448-5455, 2021 04 01.
Article
in English
| MEDLINE | ID: mdl-33300982
7.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Am J Med Genet A
; 188(9): 2642-2651, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35570716
8.
Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.
Hum Mutat
; 42(9): 1165-1172, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34196078
9.
Correction: Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med
; 22(1): 240, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31346256
10.
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
Am J Respir Crit Care Med
; 199(2): 190-198, 2019 01 15.
Article
in English
| MEDLINE | ID: mdl-30067075
11.
Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases.
J Clin Immunol
; 39(2): 216-224, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30911954
12.
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
J Pediatr
; 215: 172-177.e2, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31610925
13.
Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 20(2): 282, 2018 02.
Article
in English
| MEDLINE | ID: mdl-29215652
14.
Sources of discordance among germ-line variant classifications in ClinVar.
Genet Med
; 19(10): 1118-1126, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28569743
15.
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genet Med
; 19(10): 1105-1117, 2017 10.
Article
in English
| MEDLINE | ID: mdl-28492532
16.
Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.
Am J Med Genet A
; 170(6): 1580-4, 2016 06.
Article
in English
| MEDLINE | ID: mdl-26955893
17.
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
HGG Adv
; 5(2): 100273, 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38297832
18.
Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.
Am J Med Genet A
; 161A(7): 1792-6, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23713026
19.
A Systematic Method for Detecting Abnormal mRNA Splicing and Assessing Its Clinical Impact in Individuals Undergoing Genetic Testing for Hereditary Cancer Syndromes.
J Mol Diagn
; 25(3): 156-167, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36563937
20.
Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Urology
; 176: 106-114, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36773955