Detalhe da pesquisa
1.
A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection.
PLoS Biol
; 18(12): e3001030, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320856
2.
cGAS surveillance of micronuclei links genome instability to innate immunity.
Nature
; 548(7668): 461-465, 2017 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-28738408
3.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
4.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Am J Hum Genet
; 94(2): 295-302, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462371
5.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
6.
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.
Hum Mol Genet
; 23(10): 2569-79, 2014 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24363063
7.
A trans-acting protein effect causes severe eye malformation in the Mp mouse.
PLoS Genet
; 9(12): e1003998, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24348270
8.
A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.
Hum Mutat
; 35(11): 1295-300, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25196122
9.
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(2): 238-248, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28067909
10.
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.
Eur J Med Genet
; 57(10): 587-95, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25195018
11.
Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
Mol Genet Genomic Med
; 1(1): 15-31, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498598
12.
Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nat Genet
; 49(6): 969, 2017 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28546579