Detalhe da pesquisa
1.
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
2.
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 22(3): 453-461, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31732716
3.
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
4.
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
5.
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Am J Hum Genet
; 99(5): 1140-1149, 2016 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843123
6.
Two Angelman families with unusually advanced neurodevelopment carry a start codon variant in the most highly expressed UBE3A isoform.
Am J Med Genet A
; 176(7): 1641-1647, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29737008
7.
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Hum Mutat
; 37(6): 559-63, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931283
8.
Evidence for dysregulation of genome-wide recombination in oocytes with nondisjoined chromosomes 21.
Hum Mol Genet
; 23(2): 408-17, 2014 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24014426
9.
Regulating whole exome sequencing as a diagnostic test.
Hum Genet
; 135(6): 655-73, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27167135
10.
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 979-988, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33790423
11.
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
12.
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Am J Hum Genet
; 91(4): 646-59, 2012 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23040494
13.
Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects.
Genet Med
; 17(7): 554-60, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25341113
14.
A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.
Am J Med Genet A
; 167A(5): 1117-20, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25755011
15.
Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.
Hum Mutat
; 34(9): 1183-8, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23757202
16.
The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project.
Genet Med
; 15(9): 698-705, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23558253
17.
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
18.
Preconception folic acid supplementation and risk for chromosome 21 nondisjunction: a report from the National Down Syndrome Project.
Am J Med Genet A
; 161A(3): 438-44, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401135
19.
Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine.
Hum Mutat
; 38(1): 122, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27943539
20.
Altered patterns of multiple recombinant events are associated with nondisjunction of chromosome 21.
Hum Genet
; 131(7): 1039-46, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22160426