Detalhe da pesquisa
1.
εγ-Thalassemia, a New Hemoglobinopathy Category.
Clin Chem
; 69(7): 711-717, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086467
2.
Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases.
Brain
; 144(4): 1082-1088, 2021 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33889947
3.
Recommendations for performance optimizations when using GATK3.8 and GATK4.
BMC Bioinformatics
; 20(1): 557, 2019 Nov 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31703611
4.
Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4.
BMC Bioinformatics
; 20(1): 722, 2019 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31847808
5.
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.
J Clin Immunol
; 38(3): 307-319, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29671115
6.
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21.
Muscle Nerve
; 57(4): 679-683, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28881388
7.
RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.
J Biol Chem
; 290(10): 5979-90, 2015 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25593321
8.
TNNI3K mutation in familial syndrome of conduction system disease, atrial tachyarrhythmia and dilated cardiomyopathy.
Hum Mol Genet
; 23(21): 5793-804, 2014 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24925317
9.
Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.
J Med Genet
; 52(1): 10-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25371537
10.
Promoter-proximal transcription factor binding is transcriptionally active when coupled with nucleosome repositioning in immediate vicinity.
Nucleic Acids Res
; 42(15): 9602-11, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25081206
11.
Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
Breast Cancer Res Treat
; 153(2): 435-43, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26296701
12.
PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.
PLoS Comput Biol
; 10(1): e1003440, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24453961
13.
Implementing individualized medicine into the medical practice.
Am J Med Genet C Semin Med Genet
; 166C(1): 15-23, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24616301
14.
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Am J Med Genet A
; 164A(9): 2356-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888332
15.
FKBP5 genetic variation: association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorder.
Pharmacogenet Genomics
; 23(3): 156-66, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23324805
16.
Discovery of recurrent t(6;7)(p25.3;q32.3) translocations in ALK-negative anaplastic large cell lymphomas by massively parallel genomic sequencing.
Blood
; 117(3): 915-9, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-21030553
17.
Genomic epidemiology reveals the dominance of Hennepin County in transmission of SARS-CoV-2 in Minnesota from 2020-2022.
medRxiv
; 2023 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35923324
18.
Genomic epidemiology reveals the dominance of Hennepin County in the transmission of SARS-CoV-2 in Minnesota from 2020 to 2022.
mSphere
; 8(6): e0023223, 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882516
19.
Serine hydroxymethyltransferase 1 and 2: gene sequence variation and functional genomic characterization.
J Neurochem
; 120(6): 881-90, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22220685
20.
Gemcitabine metabolic pathway genetic polymorphisms and response in patients with non-small cell lung cancer.
Pharmacogenet Genomics
; 22(2): 105-16, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22173087