Detalhe da pesquisa
1.
Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.
Genet Med
; 26(1): 101009, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864479
2.
ETNK1 mutation occurs in a wide spectrum of myeloid neoplasms and is not specific for atypical chronic myeloid leukemia.
Cancer
; 129(6): 878-889, 2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36583229
3.
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Mol Genet Metab
; 140(1-2): 107715, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37907381
4.
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(2): 255-261, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906464
5.
Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1399-1415, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33927380
6.
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Neuropediatrics
; 52(6): 475-479, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33578445
7.
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females.
Mol Genet Metab
; 130(3): 209-214, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32418857
8.
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
J Pediatr
; 216: 44-50.e5, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31606152
9.
The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.
J Pediatr
; 211: 193-200.e2, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31133280
10.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mol Genet Metab
; 122(4): 189-197, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122469
11.
Chronic lymphocytic leukemia with t(6;14) (p21;q32) CCND3-IGH: CCND3 rearrangement does not necessarily define a cyclin D1-negative mantle cell lymphoma.
Hematol Oncol
; 40(1): 111-114, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34596253
12.
Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.
J Neurosci
; 35(23): 8866-81, 2015 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26063919
13.
Biclonal evolution of chronic lymphocytic leukaemia.
Br J Haematol
; 194(2): e64-e66, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33993475
14.
Circulating blastoid cells: acute leukemia, prolymphocytic leukemia, or something else?
Ann Hematol
; 100(12): 3047-3048, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929583
15.
Epstein-Barr virus-negative diffuse large B cell lymphoma with aberrant expression of CD3 and other T cell-associated antigens: report of three cases with a review of the literature.
Ann Hematol
; 95(10): 1671-83, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27431583
16.
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of counseling challenge.
Pediatr Res
; 80(3): 371-81, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27119313
17.
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(11): 912-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741864
18.
Detection and reporting of homozygosity associated with consanguinity in the clinical laboratory.
Hum Hered
; 77(1-4): 217-24, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060286
19.
Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(6): 1267-1270, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015575
20.
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Mol Genet Metab
; 111(3): 309-313, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24389071