Search details
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet
; 143(3): 437-453, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38520561
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37534744
3.
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.
Hum Mutat
; 43(6): 772-781, 2022 06.
Article
in English
| MEDLINE | ID: mdl-35143109
4.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Article
in English
| MEDLINE | ID: mdl-35507016
5.
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Am J Hum Genet
; 102(1): 188-195, 2018 01 04.
Article
in English
| MEDLINE | ID: mdl-29304374
6.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Article
in English
| MEDLINE | ID: mdl-30290151
7.
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Am J Hum Genet
; 102(6): 1195-1203, 2018 06 07.
Article
in English
| MEDLINE | ID: mdl-29861108
8.
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
Hum Mol Genet
; 27(14): 2454-2465, 2018 07 15.
Article
in English
| MEDLINE | ID: mdl-29726930
9.
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
Clin Genet
; 97(2): 305-311, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31628766
10.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32710489
11.
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses.
Genet Med
; 21(10): 2199-2207, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30894705
12.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Article
in English
| MEDLINE | ID: mdl-29388939
13.
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Hum Mutat
; 38(5): 600-608, 2017 05.
Article
in English
| MEDLINE | ID: mdl-28106320
14.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27513193
15.
Cellular retinoic acid-binding proteins are essential for hindbrain patterning and signal robustness in zebrafish.
Development
; 139(12): 2150-5, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22619388
16.
Noise drives sharpening of gene expression boundaries in the zebrafish hindbrain.
Mol Syst Biol
; 8: 613, 2012.
Article
in English
| MEDLINE | ID: mdl-23010996
17.
Combinatorial roles for zebrafish retinoic acid receptors in the hindbrain, limbs and pharyngeal arches.
Dev Biol
; 325(1): 60-70, 2009 Jan 01.
Article
in English
| MEDLINE | ID: mdl-18929555
18.
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
Nat Genet
; 50(10): 1442-1451, 2018 10.
Article
in English
| MEDLINE | ID: mdl-30224647
19.
Get to the root of sentinel events involving infection control.
Nurs Manage
; 35(6): 18, 22, 2004 Jun.
Article
in English
| MEDLINE | ID: mdl-15184741
20.
Take the fear out of sentinel events.
Nurs Manage
; 34(6): 24-6, 2003 Jun.
Article
in English
| MEDLINE | ID: mdl-12789049