Detalhe da pesquisa
1.
Whole-Genome Sequencing of a Healthy Aging Cohort.
Cell
; 165(4): 1002-11, 2016 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27114037
2.
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
JAMA
; 329(4): 318-324, 2023 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36692560
3.
Genomic and molecular characterization of preterm birth.
Proc Natl Acad Sci U S A
; 116(12): 5819-5827, 2019 03 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30833390
4.
Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Genet Med
; 21(5): 1240-1245, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293991
5.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Am J Hum Genet
; 95(3): 275-84, 2014 Sep 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25132448
6.
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Genet Med
; 19(12): 1367-1375, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617419
7.
Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.
Gastroenterology
; 149(7): 1872-1883.e9, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26344056
8.
Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts.
Genet Med
; 23(11): 2229, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33941885
9.
Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.
Genet Med
; 18(3): 221-30, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26334177
10.
Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Am J Med Genet A
; 167A(5): 1111-6, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25712426
11.
Cell type-specific gene expression differences in complex tissues.
Nat Methods
; 7(4): 287-9, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20208531
12.
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Hum Mol Genet
; 18(3): 463-71, 2009 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18996919
13.
COLdb, a database linking genetic data to molecular function in fibrillar collagens.
Hum Mutat
; 30(6): 946-51, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19370761
14.
Genotype-first analysis of a generally healthy population cohort supports genetic testing for diagnosis of hereditary angioedema of unknown cause.
Allergy Asthma Clin Immunol
; 15: 32, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31131012
15.
Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.
J Comput Biol
; 26(5): 405-419, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30942611
16.
Predicting the clinical lethality of osteogenesis imperfecta from collagen glycine mutations.
Biochemistry
; 47(19): 5424-32, 2008 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412368
17.
Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.
Cold Spring Harb Mol Case Stud
; 4(3)2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29444904
18.
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.
Mol Genet Genomic Med
; 6(2): 200-212, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29368431
19.
Germline de novo mutation clusters arise during oocyte aging in genomic regions with high double-strand-break incidence.
Nat Genet
; 50(4): 487-492, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29507425
20.
Gene-Centric Analysis of Preeclampsia Identifies Maternal Association at PLEKHG1.
Hypertension
; 72(2): 408-416, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967039