Detalhe da pesquisa
1.
Genome sequencing detects a balanced pericentric inversion with breakpoints that impact the DMD and upstream region of POU3F4 genes.
Am J Med Genet A
; 194(3): e63462, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37929330
2.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
3.
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.
Am J Med Genet A
; 191(12): 2831-2836, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551848
4.
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat
; 43(6): 765-771, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181961
5.
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Am J Med Genet A
; 188(9): 2825-2831, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670385
6.
Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
Am J Med Genet A
; 188(12): 3516-3524, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35934918
7.
De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.
J Med Genet
; 58(10): 712-716, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32820033
8.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Am J Hum Genet
; 103(4): 602-611, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30269814
9.
Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.
Genet Med
; 21(7): 1652-1656, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30568308
10.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
11.
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Genet Med
; 21(8): 1797-1807, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30679821
12.
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Hum Mutat
; 39(2): 281-291, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193635
13.
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Am J Med Genet A
; 176(4): 997-1000, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575628
14.
"Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.
J Genet Couns
; 25(1): 62-72, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25911622
15.
Experiences with obtaining informed consent for genomic sequencing.
Am J Med Genet A
; 167A(11): 2635-46, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26198374
16.
A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565640
17.
Development of a comprehensive genome-wide cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766118
18.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Cell Genom
; 3(2): 100258, 2023 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819666
19.
ADT Nurses Can Help Ease Bed Constraints, Patient Volumes.
Hosp Peer Rev
; 42(6): 63-65, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29996020
20.
Best practices for the interpretation and reporting of clinical whole genome sequencing.
NPJ Genom Med
; 7(1): 27, 2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395838