Detalhe da pesquisa
1.
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Genet Med
; 26(3): 101036, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054408
2.
Loss of heterozygosity leading to incorrect HLA typing for platelet-transfusion refractory patient.
Transfusion
; 63(1): 263-268, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36426572
3.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639322
4.
Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.
Pediatr Res
; 92(5): 1364-1369, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115709
5.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879022
6.
Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.
Hum Mutat
; 38(5): 517-523, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229513
7.
Stress and coping in parents of children with Prader-Willi syndrome: Assessment of the impact of a structured plan of care.
Am J Med Genet A
; 167A(5): 974-82, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755074
8.
Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Am J Med Genet A
; 167A(8): 1747-57, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25944730
9.
Genetic counselor review of genetic test orders in a reference laboratory reduces unnecessary testing.
Am J Med Genet A
; 164A(5): 1094-101, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24665052
10.
A rapid gene sequencing panel strategy to facilitate precision neonatal medicine.
Am J Med Genet A
; 173(7): 1979-1982, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497657
11.
Clinical Validation and Diagnostic Utility of Optical Genome Mapping for Enhanced Cytogenomic Analysis of Hematological Neoplasms.
J Mol Diagn
; 24(12): 1279-1291, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36265723
12.
Effective variant filtering and expected candidate variant yield in studies of rare human disease.
NPJ Genom Med
; 6(1): 60, 2021 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267211
13.
Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants.
Mol Genet Genomic Med
; 7(7): e00796, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31192527
14.
Novel mutation in CCBE 1 as a cause of recurrent hydrops fetalis from Hennekam lymphangiectasia-lymphedema syndrome-1.
Clin Case Rep
; 6(12): 2358-2363, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30564329