Search details
1.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Article
in English
| MEDLINE | ID: mdl-29478781
2.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 23(12): 2415-2425, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34400813
3.
Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.
Platelets
; 32(8): 1108-1112, 2021 Nov 17.
Article
in English
| MEDLINE | ID: mdl-33400601
4.
Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
N Engl J Med
; 386(7): 700-702, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-35020984
5.
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
J Genet Couns
; 28(2): 213-228, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30964584
6.
Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.
J Genet Couns
; 28(2): 466-476, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30706981
7.
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genet Med
; 24(4): 967, 2022 Apr.
Article
in English
| MEDLINE | ID: mdl-35394429
8.
Saccharomyces Genome Database: the genomics resource of budding yeast.
Nucleic Acids Res
; 40(Database issue): D700-5, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22110037
9.
Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.
Haematologica
; 98(11): 1689-96, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-23872309
10.
Saccharomyces Genome Database provides mutant phenotype data.
Nucleic Acids Res
; 38(Database issue): D433-6, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-19906697
11.
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing.
Nat Biotechnol
; 40(7): 1035-1041, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35347328
12.
Gene Ontology annotations at SGD: new data sources and annotation methods.
Nucleic Acids Res
; 36(Database issue): D577-81, 2008 Jan.
Article
in English
| MEDLINE | ID: mdl-17982175
13.
Expanded protein information at SGD: new pages and proteome browser.
Nucleic Acids Res
; 35(Database issue): D468-71, 2007 Jan.
Article
in English
| MEDLINE | ID: mdl-17142221
14.
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.
Nat Med
; 25(6): 911-919, 2019 06.
Article
in English
| MEDLINE | ID: mdl-31160820
15.
Tetrahymena Genome Database (TGD): a new genomic resource for Tetrahymena thermophila research.
Nucleic Acids Res
; 34(Database issue): D500-3, 2006 Jan 01.
Article
in English
| MEDLINE | ID: mdl-16381920
16.
Genome Snapshot: a new resource at the Saccharomyces Genome Database (SGD) presenting an overview of the Saccharomyces cerevisiae genome.
Nucleic Acids Res
; 34(Database issue): D442-5, 2006 Jan 01.
Article
in English
| MEDLINE | ID: mdl-16381907
17.
Fungal BLAST and Model Organism BLASTP Best Hits: new comparison resources at the Saccharomyces Genome Database (SGD).
Nucleic Acids Res
; 33(Database issue): D374-7, 2005 Jan 01.
Article
in English
| MEDLINE | ID: mdl-15608219
18.
A novel TRIP11-FLT3 fusion in a patient with a myeloid/lymphoid neoplasm with eosinophilia.
Cancer Genet
; 216-217: 10-15, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-29025582
19.
Ultra-Rapid Nanopore Whole Genome Genetic Diagnosis of Dilated Cardiomyopathy in an Adolescent With Cardiogenic Shock.
Circ Genom Precis Med
; 15(2): e003591, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35133172
20.
Saccharomyces Genome Database (SGD) provides secondary gene annotation using the Gene Ontology (GO).
Nucleic Acids Res
; 30(1): 69-72, 2002 Jan 01.
Article
in English
| MEDLINE | ID: mdl-11752257