Detalhe da pesquisa
1.
A substantial proportion of apparently heterozygous TP53 pathogenic variants detected with a next-generation sequencing hereditary pan-cancer panel are acquired somatically.
Hum Mutat
; 41(1): 203-211, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31490007
2.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
3.
Hereditary cancer testing challenges: assembling the analytical pieces to solve the patient clinical puzzle.
Future Oncol
; 15(1): 65-79, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30113232
4.
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 20(1): 3-11, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29261178
5.
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
6.
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
Mol Genet Metab
; 110(1-2): 78-85, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23806237
7.
Detection limit of intragenic deletions with targeted array comparative genomic hybridization.
BMC Genet
; 14: 116, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24304607
8.
Discordance between germline genetic findings and abnormal tumor immunohistochemistry staining of mismatch repair proteins in individuals with suspected Lynch syndrome.
Front Oncol
; 13: 1069467, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36793599
9.
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
Am J Hum Genet
; 85(4): 503-14, 2009 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-19804849
10.
Utility of phenylalanine hydroxylase genotype for tetrahydrobiopterin responsiveness classification in patients with phenylketonuria.
Mol Genet Metab
; 107(1-2): 31-6, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22841515
11.
Interpretation of BRCA2 Splicing Variants: A Case Series of Challenging Variant Interpretations and the Importance of Functional RNA Analysis.
Fam Cancer
; 21(1): 7-19, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33469799
12.
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.
Hum Mol Genet
; 18(9): 1624-32, 2009 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19224951
13.
Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
Ophthalmology
; 118(3): 558-63, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21036400
14.
Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome.
Am J Med Genet A
; 167A(12): 3229-33, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358311
15.
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.
Am J Med Genet A
; 152A(10): 2512-20, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20799337
16.
Targeted comparative genomic hybridization array for the detection of single- and multiexon gene deletions and duplications.
Genet Med
; 11(4): 232-40, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19282776
17.
Prevalence and characteristics of likely-somatic variants in cancer susceptibility genes among individuals who had hereditary pan-cancer panel testing.
Cancer Genet
; 235-236: 31-38, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31056428
18.
Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.
Am J Med Genet A
; 146A(10): 1358-67, 2008 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18412117
19.
Detection of somatic variants in peripheral blood lymphocytes using a next generation sequencing multigene pan cancer panel.
Cancer Genet
; 211: 5-8, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28279308
20.
Identification of pathogenic retrotransposon insertions in cancer predisposition genes.
Cancer Genet
; 216-217: 159-169, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29025590