Detalhe da pesquisa
1.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
2.
Transcriptional profiling reveals gland-specific differential expression in the three major salivary glands of the adult mouse.
Physiol Genomics
; 50(4): 263-271, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29373073
3.
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Diseases Program experience.
Genet Med
; 18(12): 1303-1307, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27253732
4.
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
Genet Med
; 18(6): 608-17, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562225
5.
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.
Gastroenterology
; 144(1): 112-121.e2, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23041322
6.
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Genet Med
; 16(10): 741-50, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24784157
7.
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.
Mol Genet Metab
; 113(3): 161-70, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24863970
8.
Racial and Ethnic Inequities at the Practice and Physician Levels in Timely Next-Generation Sequencing for Patients With Advanced Non-Small-Cell Lung Cancer Treated in the US Community Setting.
JCO Oncol Pract
; 20(3): 370-377, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38194619
9.
Enabling the clinical application of artificial intelligence in genomics: a perspective of the AMIA Genomics and Translational Bioinformatics Workgroup.
J Am Med Inform Assoc
; 31(2): 536-541, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38037121
10.
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People With Type 2 Diabetes.
Diabetes Care
; 47(6): 1042-1047, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38652672
11.
Time-to-Event Genome-Wide Association Study for Incident Cardiovascular Disease in People with Type 2 Diabetes Mellitus.
medRxiv
; 2023 Jul 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37546893
12.
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritance.
Hum Mutat
; 33(4): 593-8, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290570
13.
Detecting false-positive signals in exome sequencing.
Hum Mutat
; 33(4): 609-13, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22294350
14.
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
Hum Mutat
; 33(4): 614-26, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22311686
15.
Analysis of DNA sequence variants detected by high-throughput sequencing.
Hum Mutat
; 33(4): 599-608, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290882
16.
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.
Genet Med
; 14(1): 51-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237431
17.
Sensitive quantification of mosaicism using high density SNP arrays and the cumulative distribution function.
Mol Genet Metab
; 105(4): 665-71, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22277120
18.
Personalized genomic medicine: lessons from the exome.
Mol Genet Metab
; 104(1-2): 189-91, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21767969
19.
Deep Geodesic Learning for Segmentation and Anatomical Landmarking.
IEEE Trans Med Imaging
; 38(4): 919-931, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30334750
20.
Data-driven method to enhance craniofacial and oral phenotype vocabularies.
J Am Dent Assoc
; 150(11): 933-939.e2, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31668172