Detalhe da pesquisa
1.
Stable expansion of high-grade serous ovarian cancer organoids requires a low-Wnt environment.
EMBO J
; 39(6): e104013, 2020 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32009247
2.
Genomic landscape and clonal evolution of acute myeloid leukemia with t(8;21): an international study on 331 patients.
Blood
; 133(10): 1140-1151, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30610028
3.
Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.
Int J Mol Sci
; 21(16)2020 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32796691
4.
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Am J Hum Genet
; 99(3): 595-606, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569544
5.
L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes.
Nucleic Acids Res
; 45(D1): D68-D73, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27924012
6.
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.
Am J Hum Genet
; 97(1): 111-24, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26119816
7.
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Am J Hum Genet
; 97(3): 483-92, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26320891
8.
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.
BMC Cancer
; 17(1): 239, 2017 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28376765
9.
Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Nature
; 478(7367): 57-63, 2011 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-21937992
10.
Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.
J Hum Genet
; 61(7): 577-83, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27030147
11.
BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Am J Med Genet A
; 170(9): 2274-81, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27282648
12.
Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype.
Hum Mutat
; 36(3): 327-32, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25546334
13.
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
Bioinformatics
; 30(22): 3215-22, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078397
14.
Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5.
Birth Defects Res A Clin Mol Teratol
; 100(4): 314-8, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706454
15.
Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.
J Med Genet
; 50(9): 579-84, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23709756
16.
Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads.
Bioinformatics
; 28(7): 1024-5, 2012 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22302574
17.
Methylation and deamination of CpGs generate p53-binding sites on a genomic scale.
Trends Genet
; 25(2): 63-6, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19101055
18.
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
J Clin Endocrinol Metab
; 107(7): e3048-e3057, 2022 06 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35276006
19.
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
BMC Med
; 9: 82, 2011 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21726432
20.
CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Genes (Basel)
; 12(7)2021 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34201538