Detalhe da pesquisa
1.
A Journey Through Genetics to Biology.
Annu Rev Genomics Hum Genet
; 23: 1-27, 2022 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567277
2.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet
; 61(3): 250-261, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050128
3.
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Genet Med
; 22(3): 598-609, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31700164
4.
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Hum Mutat
; 40(5): 578-587, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30710461
5.
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
6.
Genome sequencing-the dawn of a game-changing era.
Heredity (Edinb)
; 123(1): 58-66, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31189904
7.
Functional assessment of disease-associated regulatory variants in vivo using a versatile dual colour transgenesis strategy in zebrafish.
PLoS Genet
; 11(6): e1005193, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26030420
8.
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.
Hum Mutat
; 38(8): 942-946, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493397
9.
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
10.
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
11.
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
Am J Hum Genet
; 93(6): 1126-34, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290376
12.
Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.
PLoS Genet
; 9(1): e1003177, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359656
13.
A survey of ancient conserved non-coding elements in the PAX6 locus reveals a landscape of interdigitated cis-regulatory archipelagos.
Dev Biol
; 387(2): 214-28, 2014 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24440152
14.
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
Hum Mutat
; 35(8): 1011-20, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24934569
15.
Professor Sue Povey (1942-2019). Former Editor-in-Chief of the Annals of Human Genetics, died January 11th 2019.
Ann Hum Genet
; 83(3): 192-193, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908597
16.
Discovery and assessment of conserved Pax6 target genes and enhancers.
Genome Res
; 21(8): 1349-59, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21617155
17.
Stochasticity in genetics and gene regulation.
Philos Trans R Soc Lond B Biol Sci
; 379(1900): 20230476, 2024 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38432316
18.
Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.
Proc Natl Acad Sci U S A
; 107(2): 775-80, 2010 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20080751
19.
Mutations in SOX2 cause anophthalmia.
Nat Genet
; 33(4): 461-3, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12612584
20.
Incapacitating the evolutionary capacitor: Hsp90 modulation of disease.
Curr Opin Genet Dev
; 18(3): 264-72, 2008 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-18662780