Detalles de la búsqueda
1.
Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections.
Hum Genet;
142(2): 245-274, 2023 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-36344696
2.
Distinct sequence features underlie microdeletions and gross deletions in the human genome.
Hum Mutat;
43(3): 328-346, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34918412
3.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Hum Genet;
139(10): 1197-1207, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32596782
4.
Insights into hominid evolution from the gorilla genome sequence.
Nature;
483(7388): 169-75, 2012 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-22398555
5.
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Hum Genet;
136(6): 665-677, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28349240
6.
Guanine holes are prominent targets for mutation in cancer and inherited disease.
PLoS Genet;
9(9): e1003816, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-24086153
7.
Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
Am J Hum Genet;
91(6): 1022-32, 2012 Dec 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-23217326
8.
The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine.
Hum Genet;
133(1): 1-9, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24077912
9.
Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations.
Hum Genomics;
5(5): 453-84, 2011 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-21807602
10.
Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease.
Hum Mutat;
32(10): 1137-43, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21681852
11.
Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides.
Hum Genomics;
4(6): 406-10, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20846930
12.
Triangulation of the human, chimpanzee, and Neanderthal genome sequences identifies potentially compensated mutations.
Hum Mutat;
31(12): 1286-93, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21064102
13.
Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.
Hum Mutat;
31(6): 631-55, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20506564
14.
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.
Hum Mutat;
26(3): 205-13, 2005 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-16086312
15.
The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics.
Hum Genomics;
4(2): 69-72, 2009 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-20038494
16.
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
Hum Mutat;
22(3): 229-44, 2003 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-12938088
17.
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.
Hum Mutat;
21(1): 28-44, 2003 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-12497629
18.
Human Gene Mutation Database (HGMD): 2003 update.
Hum Mutat;
21(6): 577-81, 2003 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-12754702
19.
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Genome Biol;
15(1): R19, 2014 Jan 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-24451234
20.
The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution.
Curr Protoc Bioinformatics;
Chapter 1: 1.13.1-1.13.20, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22948725