Detalhe da pesquisa
1.
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification.
Am J Hum Genet
; 111(1): 24-38, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103548
2.
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data.
Am J Hum Genet
; 110(9): 1496-1508, 2023 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37633279
3.
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup.
Am J Hum Genet
; 110(7): 1046-1067, 2023 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37352859
4.
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.
Am J Hum Genet
; 109(7): 1199-1207, 2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35688147
5.
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Am J Hum Genet
; 109(12): 2163-2177, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413997
6.
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
7.
Homing tasks performed using variations of crawling gait patterns reveal a role for attention in podokinetic path integration.
Exp Brain Res
; 241(3): 825-838, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36746798
8.
Acoustic information about upper limb movement in voicing.
Proc Natl Acad Sci U S A
; 117(21): 11364-11367, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32393618
9.
Harmonizing variant classification for return of results in the All of Us Research Program.
Hum Mutat
; 43(8): 1114-1121, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34923710
10.
Prognostic Neurobiomarkers in Neonatal Encephalopathy.
Dev Neurosci
; 44(4-5): 331-343, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35168240
11.
Homing tasks and distance matching tasks reveal different types of perceptual variables associated with perceiving self-motion during over-ground locomotion.
Exp Brain Res
; 240(4): 1257-1266, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35199188
12.
Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to MUC1 Mutations.
Am J Nephrol
; 52(5): 378-387, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34098564
13.
Assessing the relative contribution of vision to odometry via manipulations of gait in an over-ground homing task.
Exp Brain Res
; 239(4): 1305-1316, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630131
14.
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
PLoS Genet
; 14(12): e1007752, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30586411
15.
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines.
Hum Mutat
; 41(10): 1734-1737, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32720330
16.
Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.
BMC Med Genet
; 21(1): 38, 2020 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32085749
17.
For humans navigating without vision, navigation depends upon the layout of mechanically contacted ground surfaces.
Exp Brain Res
; 238(4): 917-930, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172353
18.
Energy flows in gesture-speech physics: The respiratory-vocal system and its coupling with hand gestures.
J Acoust Soc Am
; 148(3): 1231, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33003900
19.
Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; : 101142, 2024 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38819344
20.
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Hum Mutat
; 39(11): 1525-1530, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311383