Detalhe da pesquisa
1.
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Genet Med
; 22(2): 336-344, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31534211
2.
Correction: Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy-number variants.
Genet Med
; 22(3): 670-671, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31844178
3.
Is exon 8 the most critical or the only dispensable exon of the VCAN gene? Insights into VCAN variants and clinical spectrum of Wagner syndrome.
Am J Med Genet A
; 176(8): 1778-1783, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30055036
4.
Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Genet Med
; 18(12): 1282-1289, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27228465
5.
A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield.
Ann Neurol
; 77(2): 206-14, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25380242
6.
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Hum Mutat
; 36(1): 1-10, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25323826
7.
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum Mol Genet
; 22(1): 1-17, 2013 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22949511
8.
Aberrant firing of replication origins potentially explains intragenic nonrecurrent rearrangements within genes, including the human DMD gene.
Genome Res
; 22(1): 25-34, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22090376
9.
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Genet Med
; 17(6): 444-51, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25232854
10.
Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
Muscle Nerve
; 51(5): 767-72, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25430424
11.
Genetic variation in dihydropyrimidine dehydrogenase (DPYD) gene in a healthy adult Indian population.
Ann Hum Biol
; 42(1): 97-100, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25117664
12.
Genetic and epigenetic determinants of low dysferlin expression in monocytes.
Hum Mutat
; 35(8): 990-7, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838345
13.
Diagnostic overview of blood-based dysferlin protein assay for dysferlinopathies.
Muscle Nerve
; 50(3): 333-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24488599
14.
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Muscle Nerve
; 47(6): 931-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23666804
15.
Integrated database for identifying candidate genes for Aspergillus flavus resistance in maize.
BMC Bioinformatics
; 11 Suppl 6: S25, 2010 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-20946609
16.
17.
Plants on constant alert: elevated levels of jasmonic acid and jasmonate-induced transcripts in caterpillar-resistant maize.
J Chem Ecol
; 36(2): 179-91, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20148356
18.
A Hemizygous Deletion Within the PGK1 Gene in Males with PGK1 Deficiency.
JIMD Rep
; 45: 105-110, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30570712
19.
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A.
JIMD Rep
; 38: 61-65, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540636
20.
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Ann Clin Transl Neurol
; 5(12): 1574-1587, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564623