Detalhe da pesquisa
1.
Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Cell
; 176(6): 1310-1324.e10, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827684
2.
An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Cell
; 168(5): 830-842.e7, 2017 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28235197
3.
Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase.
Cell
; 144(5): 703-18, 2011 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21376233
4.
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
EMBO Rep
; 24(10): e55043, 2023 10 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551717
5.
Clinical genome sequencing: Three years' experience at a tertiary children's hospital.
Genet Med
; 25(10): 100916, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334785
6.
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH.
J Med Genet
; 59(3): 270-278, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33461977
7.
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Am J Hum Genet
; 105(6): 1262-1273, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31785788
8.
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Am J Med Genet A
; 188(10): 2958-2968, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35904974
9.
Functionalization of CD36 cardiovascular disease and expression associated variants by interdisciplinary high throughput analysis.
PLoS Genet
; 15(7): e1008287, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31344026
10.
Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles.
Am J Hum Genet
; 103(2): 171-187, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30032986
11.
Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Genome Res
; 28(8): 1228-1242, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907612
12.
A joint modeling approach for longitudinal microbiome data improves ability to detect microbiome associations with disease.
PLoS Comput Biol
; 16(12): e1008473, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315858
13.
Bayesian modelling of high-throughput sequencing assays with malacoda.
PLoS Comput Biol
; 16(7): e1007504, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32692749
14.
The spliceosome is a therapeutic vulnerability in MYC-driven cancer.
Nature
; 525(7569): 384-8, 2015 Sep 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331541
15.
Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing.
J Allergy Clin Immunol
; 145(2): 518-527.e8, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31738994
16.
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 100(2): 352-363, 2017 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132691
17.
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
N Engl J Med
; 376(1): 21-31, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27959697
18.
A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection.
Proc Natl Acad Sci U S A
; 114(4): E570-E579, 2017 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28069942
19.
Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2.
Am J Hum Genet
; 98(5): 883-897, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27132591
20.
Design tools for MPRA experiments.
Bioinformatics
; 34(15): 2682-2683, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30052913